ENSMUSG00000026831


Mus musculus

Features
Gene ID: ENSMUSG00000026831
  
Biological name :1700007K13Rik
  
Synonyms : 1700007K13Rik / Q5BN45 / RIKEN cDNA 1700007K13 gene
  
Possible biological names infered from orthology : C9orf116 / chromosome 9 open reading frame 116 / Q5BN46
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: A3
Gene start: 28462001
Gene end: 28466332
  
Corresponding Affymetrix probe sets: 10481272 (MoGene1.0st)   1428705_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116111
Ensembl peptide - ENSMUSP00000083557
NCBI entrez gene - 69327     See in Manteia.
MGI - MGI:1916577
RefSeq - NM_027040
RefSeq Peptide - NP_081316
swissprot - B0R017
swissprot - Q5BN45
Ensembl - ENSMUSG00000026831
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 B0UXH9ENSDARG00000058940Danio rerio
 C9orf116ENSGALG00000040773Gallus gallus
 Q5BN46ENSG00000160345Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR026507  Uncharacterised protein family UPF0691


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008150 biological_process ND
 cellular_componentGO:0005575 cellular_component ND
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0000286 abnormal mitral valve morphology "malformation of the valve between the left atrium and the left ventricle of the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0000531 right pulmonary isomerism "bilaterally symmetric right lung pattern (or altered asymmetric patterning of the lung)" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:58530]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 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: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0000650 mesocardia "cardiac apex pointing to the middle as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002590 increased mean corpuscular volume "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0002740 heart hypoplasia "decreased cell number in the heart" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:77765]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0003140 dilated atria "an expansion in the volume of one or both of the upper chambers of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0003178 left pulmonary isomerism "bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]
Show

Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0003921 abnormal left ventricle morphology "structural anomaly of the left lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0004066 abnormal Henson s node morphology "malformation of cells in the small pit at the anterior end of the primitive streak that are important in determining left-right asymmetry" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0004133 heterotaxia "abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0008987 abnormal liver lobule morphology "any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0010117 abnormal lateral plate mesoderm "anomaly of the portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 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: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010595 abnormal aortic valve cusp morphology "any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010808 right-sided stomach "stomach is present on the right side of the body instead of the left" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0010853 abnormal lung position or orientation "the lung is displaced from the normal position and/or has an altered left/right orientation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0010975 abnormal lung lobe morphology "any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 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]
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Allelic Composition: Cdkn2aem2Cjs/Cdkn2aem2Cjs
Genetic Background: C57BL/6-Cdkn2aem2Cjs

 MP:0011252 situs inversus totalis "the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia)" [MGI:csmith]
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: 1700007K13RikGt(OST3440)Lex/1700007K13RikGt(OST3440)Lex
Genetic Background: either: (involves: 129S5/SvEvBrd * C57BL/6J) or (involves: 129S5/SvEvBrd * C57BL/6J * FVB/N)

 MP:0013840 absent segment of posterior cerebral artery "absence of a portion of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain" [UBERON:0001636]
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0013847 retropleural edema "accumulation of watery or serous fluid in the retropleural space" [MGI:csmith]
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0013971 blood in lymph vessels 
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0014001 abnormal vertebral artery topology "abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck" [MGI:csmith]
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0014021 heterochrony 
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Allelic Composition: Col1a1tm20(tetO-GFP,-cas9*D10A)Slowe/Col1a1+,Gt(ROSA)26Sortm1(rtTA*M2)Jae/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0020494 left sided inferior vena cava "the infrarenal segment of the inferior vena cava is present on the left side of the body instead of on the right side; typically as a result of regression of the right supracardinal vein and persistence of the left supracardinal vein" [http://www.sciencedirect.com/science/article/pii/S1533316707000374, https://radiopaedia.org/articles/transposition-of-inferior-vena-cava, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921701/]
Show

Allelic Composition: 1700007K13RikGt(OST3440)Lex/1700007K13RikGt(OST3440)Lex
Genetic Background: either: (involves: 129S5/SvEvBrd * C57BL/6J) or (involves: 129S5/SvEvBrd * C57BL/6J * FVB/N)

  


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






 

0 s.

 
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