Adamts19 - SNV Details



 Gene Information 
Gene Name Adamts19
Old Gene Names for Adamts19 4831407i23rik , Au015154 , D230034e10rik
Gene Description a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19 [Source:MGI Symbol;Acc:MGI:2442875]
Uniprot Name
CCDS Name
Gene GO
extracellular matrix; proteinaceous extracellular matrix; zinc ion binding; peptidase activity; proteolysis; metalloendopeptidase activity
Homolog in other species ADAMTS19
Omim http://omim.org/entry/607513
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000053441
Chromosome 18
Coordinate 58,972,779     (Assembly: GRCm38)    
Ref Base A
Codon Change Act/Gct
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.37
G:V0.63
Amino Acid Position 749
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01385
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved