Adam11 - SNV Details



 Gene Information 
Gene Name Adam11
Old Gene Names for Adam11 Aw060611 , Mdc
Gene Description a disintegrin and metallopeptidase domain 11 [Source:MGI Symbol;Acc:MGI:1098667]
MGI phenotype Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; zinc ion binding; protein binding; proteolysis; integrin-mediated signaling pathway; metalloendopeptidase activity
Homolog in other species ADAM11
Omim http://omim.org/entry/155120
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020926
Chromosome 11
Coordinate 102,776,831     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 274
Allele Frequency
A:R0.52
G:V0.47
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL00090
Median Base Quality 35
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.71
Polyphen Prediction Possibly damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved