ENSMUSG00000001039


Mus musculus

Features
Gene ID: ENSMUSG00000001039
  
Biological name :B9d1
  
Synonyms : B9d1 / B9 domain-containing protein 1 / Q9R1S0
  
Possible biological names infered from orthology : B9 domain containing 1 / Q9UPM9
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: B2
Gene start: 61505144
Gene end: 61512931
  
Corresponding Affymetrix probe sets: 10376787 (MoGene1.0st)   1417596_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000099717
Ensembl peptide - ENSMUSP00000117524
NCBI entrez gene - 27078     See in Manteia.
MGI - MGI:1351471
RefSeq - XM_006533448
RefSeq - NM_013717
RefSeq - XM_006533445
RefSeq - XM_006533446
RefSeq - XM_006533447
RefSeq Peptide - NP_038745
swissprot - Q5NCM9
swissprot - Q9R1S0
Ensembl - ENSMUSG00000001039
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 b9d1ENSDARG00000011727Danio rerio
 B9D1ENSGALG00000005096Gallus gallus
 B9D1ENSG00000108641Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
B9d2 / Q3UK10 / B9 domain-containing protein 2 / Q9BPU9* / B9 domain containing 2*ENSMUSG0000006343923


Protein motifs (from Interpro)
Interpro ID Name
 IPR010796  B9 domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001944 vasculature development IMP
 biological_processGO:0007224 smoothened signaling pathway IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0032880 regulation of protein localization IMP
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0060271 cilium assembly ISS
 biological_processGO:0060563 neuroepithelial cell differentiation IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0035869 ciliary transition zone IDA
 cellular_componentGO:0036038 MKS complex IDA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008158 hedgehog receptor activity IMP


Pathways (from Reactome)
Pathway description
Anchoring of the basal body to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-COP4*E123T*H134R,-tdTomato)Gfng/Gt(ROSA)26Sortm1(CAG-COP4*E123T*H134R,-tdTomato)Gfng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0000644 dextrocardia "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0000785 telencephalon hypoplasia "reduced cell number in cerebral cortex and basal ganglia" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Asxl1tm1a(EUCOMM)Wtsi/Asxl1+
Genetic Background: C57BL/6N-Asxl1tm1a(EUCOMM)Wtsi/Cnrm

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

Allelic Composition: B9d1tm1d(EUCOMM)Wtsi/B9d1tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0001486 abnormal startle reflex "abberant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Asxl1tm1a(EUCOMM)Wtsi/Asxl1+
Genetic Background: C57BL/6N-Asxl1tm1a(EUCOMM)Wtsi/Cnrm

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-COP4*E123T*H134R,-tdTomato)Gfng/Gt(ROSA)26Sortm1(CAG-COP4*E123T*H134R,-tdTomato)Gfng
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: B9d1tm1d(EUCOMM)Wtsi/B9d1tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * FVB/N * SJL

 MP:0002127 abnormal cardiovascular system morphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

Allelic Composition: B9d1tm1d(EUCOMM)Wtsi/B9d1tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * FVB/N * SJL

 MP:0002138 abnormal liver/biliary system morphology "structural abnormality or aberrant development of any of the tissues of the liver or biliary system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: B9d1tm1d(EUCOMM)Wtsi/B9d1tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * FVB/N * SJL

 MP:0002652 thin myocardial wall "thinly developed cardiac muscle layers" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0002929 abnormal bile duct development "incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0003743 abnormal facial morphology "anomalous structure or development of the face" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0003861 abnormal nervous system development "impaired or altered growth of the components of the nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: B9d1tm1d(EUCOMM)Wtsi/B9d1tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: B9d1tm1d(EUCOMM)Wtsi/B9d1tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0004839 bile duct hyperplasia "overdevelopment or increased size of the bile ducts, usually due to an increase in the number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0005316 abnormal response to tactile stimuli "anomalous reflex action normally induced by touch or pain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Asxl1tm1a(EUCOMM)Wtsi/Asxl1+
Genetic Background: C57BL/6N-Asxl1tm1a(EUCOMM)Wtsi/Cnrm

 MP:0008528 polycystic kidney "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0009743 preaxial polydactyly "duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

Allelic Composition: B9d1tm1d(EUCOMM)Wtsi/B9d1tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: B9d1tm1d(EUCOMM)Wtsi/B9d1tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * FVB/N * SJL

 MP:0011109 partial lethality throughout fetal growth and development "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0011293 dilated nephron "stretched or widened aperture of the luminal space of the filtering unit of the kidney" [MGI:anna]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0011408 renal tubule hypertrophy "increase in the bulk size of the loop of Henle, the proximal convoluted tubule or the distal convoluted tubule, due to cell enlargement" [MGI:anna]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0011998 decreased embryonic cilium length "reduced length of the cilia of the mouse embryo found on the cells of the embryonic node" [MGI:csmith]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

 MP:0013197 decreased embryonic cilium number "reduced number of the cilia of the mouse embryo found on the cells of the embryonic node" [MGI:anna]
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Allelic Composition: Dock1tm1.1Ysfk/Dock1tm1.1Ysfk
Genetic Background: B6(Cg)-Dock1tm1.1Ysfk

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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