Brca1 - SNV Details



 Human Rare Diseases 
Primary peritoneal carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Familial pancreatic carcinoma

 Gene Information 
Gene Name Brca1
Gene Description breast cancer 1 [Source:MGI Symbol;Acc:MGI:104537]
MGI phenotype Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; chordate embryonic development; ubiquitin-protein transferase activity; positive regulation of histone H3-K9 methylation; positive regulation of histone H4-K16 acetylation; positive regulation of histone acetylation; RNA binding; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; metal ion binding; condensed nuclear chromosome; BRCA1-BARD1 complex; DNA repair; condensed chromosome; centrosome duplication; positive regulation of histone H3-K4 methylation; fatty acid biosynthetic process; positive regulation of histone H3-K9 acetylation; regulation of DNA methylation; zinc ion binding; DNA replication; DNA binding; intrinsic apoptotic signaling pathway in response to DNA damage; negative regulation of fatty acid biosynthetic process; centrosome cycle; protein binding; regulation of gene expression by genetic imprinting; transcription regulatory region DNA binding; damaged DNA binding; negative regulation of histone acetylation; nucleus; ribonucleoprotein complex; protein K6-linked ubiquitination; DNA recombination; positive regulation of histone H4-K20 methylation; dosage compensation by inactivation of X chromosome; protein autoubiquitination; plasma membrane; ligase activity; cellular response to DNA damage stimulus; negative regulation of histone H3-K4 methylation; chromosome; centrosome; negative regulation of histone H3-K9 methylation
Homolog in other species BRCA1
Omim http://omim.org/entry/113705
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM GROUP, OSTEO GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000017146
Chromosome 11
Coordinate 101,489,912     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 20
Allele Frequency
T:R0.60
C:V0.40
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02940
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.68
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved