Auts2 - SNV Details



 Gene Information 
Gene Name Auts2
Old Gene Names for Auts2 2700063g02rik , A730011f23rik , D830032g16rik
Gene Description autism susceptibility candidate 2 [Source:MGI Symbol;Acc:MGI:1919847]
Uniprot Name
CCDS Name
Gene GO
cellular_component; biological_process; molecular_function
Homolog in other species AUTS2
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029673
Chromosome 5
Coordinate 131,440,218     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Gcc
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 545
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01739
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Sift Score 0.38
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved