Tmprss3 - SNV Details



 Human Rare Diseases 
Autosomal recessive nonsyndromic sensorineural deafness type DFNB

 Gene Information 
Gene Name Tmprss3
Gene Description transmembrane protease, serine 3 [Source:MGI Symbol;Acc:MGI:2155445]
MGI phenotype Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration.
Uniprot Name
CCDS Name
Gene GO
membrane; catalytic activity; endoplasmic reticulum membrane; endoplasmic reticulum; sodium channel regulator activity; protein binding; integral component of membrane; neuronal cell body; sensory perception of sound; receptor-mediated endocytosis; proteolysis; cellular sodium ion homeostasis; serine-type endopeptidase activity; scavenger receptor activity
Homolog in other species TMPRSS3
Omim http://omim.org/entry/605511
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024034
Chromosome 17
Coordinate 31,195,008     (Assembly: GRCm38)    
Ref Base T
Codon Change gAt/gTt
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Position 54
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL00159
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.31
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved