Atg5 - SNV Details



 Gene Information 
Gene Name Atg5
Gene Description autophagy-related 5 (yeast) [Source:MGI Symbol;Acc:MGI:1277186]
MGI phenotype Mutation of this gene results in impaired autophagy due to absence of autolysosomes. Homozygotes die within 1 day of birth, have shorter survival times and reduced amino acid levels under fasting conditions. Homozygotes for a gene trap insertion mutation in this gene show no abnormal phenotype.
Uniprot Name
CCDS Name
Gene GO
autophagic vacuole
autophagic vacuole assembly
autophagy
blood vessel remodeling
cytoplasm
cytosol
heart contraction
negative regulation of apoptosis
negative regulation of protein ubiquitination
otolith development
post-translational protein modification
Homolog in other species ATG5
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038160
Chromosome 10
Coordinate 44,363,044     (Assembly: GRCm38)    
Ref Base A
Codon Change Aca/Gca
Var Base G
Zygosity Heterozygous
Read Depth 48
Allele Frequency
A:0.56
G:0.44
Amino Acid Position 274
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL00823
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.27
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved