Tgm5 - SNV Details



 Human Rare Diseases 
Localized peeling skin syndrome

 Gene Information 
Gene Name Tgm5
Old Gene Names for Tgm5 2310007c07rik
Gene Description transglutaminase 5 [Source:MGI Symbol;Acc:MGI:1921426]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; metal ion binding; peptide cross-linking; protein-glutamine gamma-glutamyltransferase activity; cellular_component; molecular_function
Homolog in other species TGM5
Omim http://omim.org/entry/603805
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000053675
Chromosome 2
Coordinate 121,071,496     (Assembly: GRCm38)    
Ref Base A
Codon Change Tgt/Agt
Var Base T
Zygosity Heterozygous
Read Depth 30
Allele Frequency
A:R0.37
T:V0.63
Amino Acid Position 231
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL01061
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved