|Institutional Source||Beutler Lab|
|Gene Name||autophagy related 5|
|Synonyms||Paddy, 3110067M24Rik, Apg5l, 2010107M05Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2094 (G1)|
|Chromosomal Location||44268358-44364291 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 44319548 bp|
|Amino Acid Change||Isoleucine to Methionine at position 189 (I189M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044769 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039286]|
|Predicted Effect||probably damaging
AA Change: I189M
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: I189M
|Meta Mutation Damage Score||0.7930|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
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||
|Other mutations in Atg5||
(F):5'- CTGAGTGGCTAAGACTTTACTGTC -3'
(R):5'- CTGTAGCAGGTAGACGAATCAG -3'
(F):5'- CAGTTTTGGGCCATCAAC -3'
(R):5'- AGTAGCAACTATGAGTCACTGC -3'