Adam19 - SNV Details



 Gene Information 
Gene Name Adam19
Old Gene Names for Adam19 Al024287 , Mltnb
Gene Description a disintegrin and metallopeptidase domain 19 (meltrin beta) [Source:MGI Symbol;Acc:MGI:105377]
MGI phenotype Homozygous null mice exhibit cardiac developmental defects and die perinatally.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; SH3 domain binding; zinc ion binding; protein binding; membrane protein ectodomain proteolysis; proteolysis; metalloendopeptidase activity; heart development
Homolog in other species ADAM19
Omim http://omim.org/entry/603640
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000011256
Chromosome 11
Coordinate 46,112,924     (Assembly: GRCm38)    
Ref Base A
Codon Change cAt/cTt
Var Base T
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.60
T:V0.40
Amino Acid Position 193
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL01758
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.68
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved