Amer2 - SNV Details



 Gene Information 
Gene Name Amer2
Old Gene Names for Amer2 2600011e07rik , Fam123a
Gene Description APC membrane recruitment 2 [Source:MGI Symbol;Acc:MGI:1919375]
Uniprot Name
CCDS Name
Gene GO
negative regulation of canonical Wnt signaling pathway; protein binding; Wnt signaling pathway; ectoderm development; phosphatidylinositol-4
5-bisphosphate binding; plasma membrane
Homolog in other species AMER2
Omim http://omim.org/entry/614659
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021986
Chromosome 14
Coordinate 60,378,552     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 15
Allele Frequency
C:R0.53
A:V0.47
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL03306
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved