Bccip - SNV Details



 Gene Information 
Gene Name Bccip
Old Gene Names for Bccip 1110013j05rik
Gene Description BRCA2 and CDKN1A interacting protein [Source:MGI Symbol;Acc:MGI:1913415]
Uniprot Name
CCDS Name
Gene GO
neuroendocrine cell differentiation; regulation of cyclin-dependent protein kinase activity; DNA repair; cell cycle; kinase regulator activity; protein binding; nuclear cyclin-dependent protein kinase holoenzyme complex
Homolog in other species BCCIP
Omim http://omim.org/entry/611883
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030983
Chromosome 7
Coordinate 133,709,376     (Assembly: GRCm38)    
Ref Base A
Codon Change Aag/Gag
Var Base G
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Position 7
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL02347
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved