Adam5 - SNV Details



 Gene Information 
Gene Name Adam5
Gene Description a disintegrin and metallopeptidase domain 5 [Source:MGI Symbol;Acc:MGI:104730]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; zinc ion binding; protein binding; proteolysis; metalloendopeptidase activity
Homolog in other species ADAM5P
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031554
Chromosome 8
Coordinate 24,810,823     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 15
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Position 230
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01570
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000112422:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Peptidase M12B, ADAM/reprolysin Peptidase_M12B IPR001590 ENSMUSP00000112422 Pfam 185
378 Description available Search pathways
Peptidase M12B, ADAM/reprolysin Peptidase_M12B IPR001590 ENSMUSP00000112422 Prosite_profiles 185
378 Description available Search pathways

 Availability Details 
Availability Cryopreserved