Astn2 - SNV Details



 Gene Information 
Gene Name Astn2
Old Gene Names for Astn2 Astnl
Gene Description astrotactin 2 [Source:MGI Symbol;Acc:MGI:1889277]
Uniprot Name
CCDS Name
Gene GO
protein binding; cell pole; integral component of membrane; endosome; negative regulation of protein localization to cell surface
Homolog in other species ASTN2
Omim http://omim.org/entry/612856
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028373
Chromosome 4
Coordinate 65,644,821     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.44
T:V0.56
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL02792
Median Base Quality 34
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.6
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved