BC117090 - SNV Details



 Gene Information 
Gene Name Bc117090
Old Gene Names for BC117090 100038854 , Gm1975
Gene Description cDNA sequence BC1179090 [Source:MGI Symbol;Acc:MGI:3696881]
Uniprot Name
CCDS Name
Gene GO
intracellular; cysteine-type endopeptidase inhibitor activity; cellular_component; biological_process; molecular_function
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000079594
Chromosome 16
Coordinate 36,334,263     (Assembly: GRCm38)    
Ref Base C
Codon Change Gcc/Tcc
Var Base A
Zygosity Heterozygous
Read Depth 151
Allele Frequency
C:R0.50
A:V0.49
Amino Acid Position 11
Amino Acid Change A->S (Alanine -> Serine)
Sample ID IGL01901
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved