ENSMUSG00000033762


Mus musculus

Features
Gene ID: ENSMUSG00000033762
  
Biological name :Recql4
  
Synonyms : Recql4 / RecQ like helicase 4
  
Possible biological names infered from orthology :
  
Species: Mus musculus
  
Chr. number: 15
Strand: -1
Band: D3
Gene start: 76703553
Gene end: 76710548
  
Corresponding Affymetrix probe sets: 10430071 (MoGene1.0st)   1422922_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000044363
Ensembl peptide - ENSMUSP00000154957
Ensembl peptide - ENSMUSP00000155694
NCBI entrez gene - 79456     See in Manteia.
MGI - MGI:1931028
RefSeq - XM_017316805
RefSeq - NM_058214
RefSeq - XM_006521548
RefSeq - XM_017316804
RefSeq - XM_006521546
RefSeq - XM_006521547
RefSeq Peptide - NP_478121
swissprot - A0A0R4J0J3
Ensembl - ENSMUSG00000033762
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 recql4ENSDARG00000077516Danio rerio
 RECQL4ENSG00000160957Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Blm / O88700 / Bloom syndrome protein homolog / P54132* / Bloom syndrome RecQ like helicase*ENSMUSG0000003052817
Wrn / O09053 / Werner syndrome RecQ like helicase / Q14191*ENSMUSG0000003158316
Q8VID5 / Recql5 / ATP-dependent DNA helicase Q5 / O94762* / RecQ like helicase 5*ENSMUSG0000002075213
Recql / Q9Z129 / RecQ protein-like / P46063* / RecQ like helicase*ENSMUSG0000003024311


Protein motifs (from Interpro)
Interpro ID Name
 IPR001650  Helicase, C-terminal
 IPR001878  Zinc finger, CCHC-type
 IPR004589  DNA helicase, ATP-dependent, RecQ type
 IPR011545  DEAD/DEAH box helicase domain
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR021110  DNA replication/checkpoint protein
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036875  Zinc finger, CCHC-type superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006310 DNA recombination IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008026 ATP-dependent helicase activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA


Pathways (from Reactome)
Pathway description
No match


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: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0000128 growth retardation of molars "developmental delay of the growth of the molars" [J:17489]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000133 abnormal long bone metaphysis morphology "malformed conical section of bone between the epiphysis and diaphysis of the long bones" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61295]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000367 abnormal coat/ hair morphology "anomalous color, structure, growth, or texture of the hair" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Psphtm1a(EUCOMM)Hmgu/Psph+
Genetic Background: C57BL/6N-Psphtm1a(EUCOMM)Hmgu/Wtsi

 MP:0000413 polyphalangy "increased number of phalanges in any of the digits" [J:13069, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000496 abnormal small intestine morphology "structural or developmental anomalies of the intestinum tenue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
Show

Allelic Composition: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0000706 small thymus "reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002032 sarcoma "connective tissue neoplasm associated with the proliferation of mesodermal cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
Show

Allelic Composition: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0002044 colonic adenoma "benign tumors of the large intestine" [J:38772]
Show

Allelic Composition: Recql4tm1Glu/Recql4tm1Glu
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0002115 abnormal skeleton extremities morphology "abnormal development of limb, foot or tail bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0003721 increased tumor growth/size "greater than expected development of tumorous growth when compared to controls" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: ApcMin/Apc+,Recql4tm1Glu/Recql4tm1Glu
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003961 decreased lean body mass "less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
Show

Allelic Composition: Psphtm1a(EUCOMM)Hmgu/Psph+
Genetic Background: C57BL/6N-Psphtm1a(EUCOMM)Hmgu/Wtsi

 MP:0004028 chromosome breakage "chromosome instability in the from of increased frequency of spontaneous breakage with or without rearrangements" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0005033 abnormal trophoblast cells "anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
Show

Allelic Composition: Bmp4tm1Blh/Bmp4tm3.1Blh,Tg(Tnnt2-cre)5Blh/0
Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR

 MP:0005171 lack of coat pigmentation "fur is devoid of coloration and appears white " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005174 abnormal tail pigmentation "anomalous color of the tail in relation to control animals" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0005359 growth retardation of incisors "developmental delay of the growth of the incisors, the long pointed teeth, most anterior and prominent in the jaw " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008479 decreased spleen white pulp amount "reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009543 abnormal thymus corticomedullary boundary morphology "any structural anomaly of the dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17067941]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009743 preaxial polydactyly "duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433]
Show

Allelic Composition: Motp1CE/J/Motp1CE/J,Trp53tm1Tyj/Trp53+
Genetic Background: involves: 129-Trp53tm1Tyj/J * CE/J

 MP:0010024 increased total body fat amount "greater than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Psphtm1a(EUCOMM)Hmgu/Psph+
Genetic Background: C57BL/6N-Psphtm1a(EUCOMM)Hmgu/Wtsi

 MP:0010052 increased grip strength "greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Psphtm1a(EUCOMM)Hmgu/Psph+
Genetic Background: C57BL/6N-Psphtm1a(EUCOMM)Hmgu/Wtsi

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Psphtm1a(EUCOMM)Hmgu/Psph+
Genetic Background: C57BL/6N-Psphtm1a(EUCOMM)Hmgu/Wtsi

 MP:0010383 increased adenoma incidence "greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:C04.557.470.035]
Show

Allelic Composition: ApcMin/Apc+,Recql4tm1Glu/Recql4tm1Glu
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Pax2tm1Pgr/Pax2tm1Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Recql4tm1Glu/Recql4tm1Glu
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Bmp4tm1Blh/Bmp4tm3.1Blh,Tg(Tnnt2-cre)5Blh/0
Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR

 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: Rad21ltm1b(KOMP)Wtsi/Rad21ltm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Rad21ltm1b(KOMP)Wtsi/J

 MP:0012113 decreased inner cell mass proliferation 
Show

Allelic Composition: Bmp4tm1Blh/Bmp4tm3.1Blh,Tg(Tnnt2-cre)5Blh/0
Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6 * DBA/2 * ICR

 MP:0012431 increased lymphoma incidence "greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]
Show

Allelic Composition: Recql4tm1Glu/Recql4tm1Glu
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

  


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






 

0 s.

 
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