Brip1 - SNV Details



 Human Rare Diseases 
Hereditary breast and ovarian cancer syndrome
Fanconi anemia

 Gene Information 
Gene Name Brip1
Old Gene Names for Brip1 3110009n10rik , 8030460j03rik
Gene Description BRCA1 interacting protein C-terminal helicase 1 [Source:MGI Symbol;Acc:MGI:2442836]
Uniprot Name
CCDS Name
Gene GO
hydrolase activity
acting on acid anhydrides; cytoplasm; metal ion binding; ATP-dependent helicase activity; DNA repair; nucleobase-containing compound metabolic process; DNA binding; regulation of transcription from RNA polymerase II promoter; protein binding; hydrolase activity
acting on acid anhydrides
in phosphorus-containing anhydrides; ATP-dependent DNA helicase activity; nucleus; 4 iron
4 sulfur cluster binding; nucleic acid binding; ATP binding; nuclear membrane
Homolog in other species BRIP1
Omim http://omim.org/entry/605882
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
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034329
Chromosome 11
Coordinate 86,061,877     (Assembly: GRCm38)    
Ref Base A
Codon Change gTa/gCa
Var Base G
Zygosity Heterozygous
Read Depth 42
Allele Frequency
A:R0.57
G:V0.43
Amino Acid Position 1026
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01503
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.26
Polyphen Prediction Benign
Sift Score 0.68
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved