Tmprss15 - SNV Details

 Human Rare Diseases 
Congenital enteropathy due to enteropeptidase deficiency

 Gene Information 
Gene Name Tmprss15
Old Gene Names for Tmprss15 Prss7 , A130097d21rik
Gene Description transmembrane protease, serine 15 [Source:MGI Symbol;Acc:MGI:1197523]
Uniprot Name
Gene GO
membrane; catalytic activity; integral to membrane; protein binding; proteolysis; serine-type endopeptidase activity; scavenger receptor activity
Homolog in other species TMPRSS15
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022857
Chromosome 16
Coordinate 79,090,790     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 32
Allele Frequency
Amino Acid Position 43
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01896
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

Polyphen Score 0.45
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved