Capn11 - SNV Details



 Gene Information 
Gene Name Capn11
Gene Description calpain 11 [Source:MGI Symbol;Acc:MGI:1352490]
Uniprot Name
CCDS Name
Gene GO
intracellular; acrosomal vesicle; calcium-dependent cysteine-type endopeptidase activity; proteolysis; calcium ion binding
Homolog in other species CAPN11
Omim http://omim.org/entry/604822
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058626
Chromosome 17
Coordinate 45,632,709     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL02696
Median Base Quality 38.5
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved