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 59,024,518     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgc/Agc
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:R0.58
A:V0.42
Amino Acid Position 961
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL02982
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.67
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000050535:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Thrombospondin, type 1 repeat Thrombospondin_1_rpt IPR000884 ENSMUSP00000050535 Prosite_profiles 918
978 Description available Search pathways
Thrombospondin, type 1 repeat Thrombospondin_1_rpt IPR000884 ENSMUSP00000050535 Superfamily 914
979 Description available Search pathways
Thrombospondin, type 1 repeat Thrombospondin_1_rpt IPR000884 ENSMUSP00000050535 Smart 922
980 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved