Adam22 - SNV Details



 Gene Information 
Gene Name Adam22
Old Gene Names for Adam22 2900022i03rik , Ai854032
Gene Description a disintegrin and metallopeptidase domain 22 [Source:MGI Symbol;Acc:MGI:1340046]
MGI phenotype Homozygous mutant mice exhibit severe ataxia, die before weaning and have marked hypomyelination of the peripheral nerves.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; myelination in peripheral nervous system; adult locomotory behavior; zinc ion binding; protein binding; Schwann cell differentiation; extracellular region; proteolysis; metalloendopeptidase activity
Homolog in other species ADAM22
Omim http://omim.org/entry/603709
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040537
Chromosome 5
Coordinate 8,092,742     (Assembly: GRCm38)    
Ref Base T
Codon Change aAc/aGc
Var Base C
Zygosity Heterozygous
Read Depth 86
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 795
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01691
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.08
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved