Piezo1,Gm20388 - SNV Details



 Gene Information 
Gene Name Piezo1 , Gm20388
Old Gene Names for Piezo1 Bc039210 , Fam38a
Gene Description family with sequence similarity 38, member A [Source:MGI Symbol;Acc:MGI:3603204],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; Golgi cisterna membrane; protein glycosylation; polypeptide N-acetylgalactosaminyltransferase activity; carbohydrate binding; extracellular region
cation channel activity; positive regulation of integrin activation; positive regulation of cell-cell adhesion mediated by integrin; endoplasmic reticulum; detection of mechanical stimulus; mechanically-gated ion channel activity; plasma membrane; regulation of membrane potential
Homolog in other species FAM38A,NO_HOMOLOG
Immgen Expression
MEDIAN(LOWER IN GN.BM, T.DPSM.TH,MF.RP.SP),NO_IMMGEN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000092329
Chromosome 8
Coordinate 122,487,600     (Assembly: GRCm38)    
Ref Base A
Codon Change agT/agA
Var Base T
Zygosity Heterozygous
Read Depth 16
Allele Frequency
A:R0.56
T:V0.44
Amino Acid Position 1609
Amino Acid Change S->R (Serine -> Arginine)
Sample ID IGL01321
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.24
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved