Incidental Mutation 'P0041:Atg5'
ID15553
Institutional Source Beutler Lab
Gene Symbol Atg5
Ensembl Gene ENSMUSG00000038160
Gene Nameautophagy related 5
SynonymsPaddy, 3110067M24Rik, Apg5l, 2010107M05Rik
MMRRC Submission 038289-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #P0041 (G1)
Quality Score
Status Validated
Chromosome10
Chromosomal Location44268358-44364291 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 44289942 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 63 (E63A)
Ref Sequence ENSEMBL: ENSMUSP00000044769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039286]
Predicted Effect probably benign
Transcript: ENSMUST00000039286
AA Change: E63A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044769
Gene: ENSMUSG00000038160
AA Change: E63A

DomainStartEndE-ValueType
Pfam:APG5 79 270 2.6e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217412
Meta Mutation Damage Score 0.0720 question?
Coding Region Coverage
  • 1x: 86.7%
  • 3x: 79.7%
  • 10x: 43.1%
  • 20x: 3.5%
Validation Efficiency 96% (69/72)
MGI Phenotype FUNCTION: The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Two transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
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 mutationin this gene show no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap1 A G 2: 91,669,393 E291G probably benign Het
Clec4b2 A G 6: 123,181,294 T40A possibly damaging Het
Colgalt1 A G 8: 71,622,790 M447V probably benign Het
Enpep T C 3: 129,332,198 D95G possibly damaging Het
Epha3 C A 16: 63,612,868 E170D probably damaging Het
Gm9900 A T 11: 58,329,583 Y63* probably null Het
Gtf2i C T 5: 134,244,888 probably benign Het
Klhl1 T A 14: 96,280,211 N343I probably damaging Het
Large2 A G 2: 92,367,254 probably benign Het
Mobp G A 9: 120,168,017 probably benign Het
Nek10 A T 14: 14,861,603 H553L probably benign Het
Nploc4 A T 11: 120,418,331 D148E probably damaging Het
Olfr351 T C 2: 36,859,461 K296E probably damaging Het
Ppp1r3a A G 6: 14,719,697 I406T probably benign Het
Slc9c1 T A 16: 45,550,161 M255K possibly damaging Het
Synrg C T 11: 83,982,311 probably benign Het
Trak2 A G 1: 58,909,964 V559A probably damaging Het
Trpm3 A G 19: 22,897,686 D552G probably benign Het
Wdr63 G A 3: 146,081,242 S346F possibly damaging Het
Other mutations in Atg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Atg5 APN 10 44363044 missense probably benign 0.00
R2094:Atg5 UTSW 10 44319548 missense probably damaging 1.00
R4906:Atg5 UTSW 10 44363050 makesense probably null
R5718:Atg5 UTSW 10 44362987 missense probably benign 0.01
R6194:Atg5 UTSW 10 44294616 missense probably damaging 1.00
R6660:Atg5 UTSW 10 44294655 missense probably benign
R7070:Atg5 UTSW 10 44286154 missense probably damaging 1.00
R7677:Atg5 UTSW 10 44347039 missense probably damaging 1.00
Posted On2012-12-21