Sppl2c - SNV Details



 Gene Information 
Gene Name Sppl2c
Old Gene Names for Sppl2c 4933407p14rik
Gene Description signal peptide peptidase 2C [Source:MGI Symbol;Acc:MGI:3045264]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; endoplasmic reticulum membrane; protein homodimerization activity; integral to lumenal side of endoplasmic reticulum membrane; integral to cytosolic side of endoplasmic reticulum membrane; biological_process; aspartic-type endopeptidase activity
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049506
Chromosome 11
Coordinate 104,186,937     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtt/Att
Var Base A
Zygosity Heterozygous
Read Depth 36
Allele Frequency
G:R0.61
A:V0.39
Amino Acid Position 188
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL02479
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.86
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved