|Institutional Source||Beutler Lab|
|Gene Name||autophagy related 3|
|Synonyms||PC3-96, 2610016C12Rik, Apg3l, APG3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5047 (G1)|
|Chromosomal Location||45158785-45188538 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 45178232 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 132 (D132E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023343 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023343]|
|Predicted Effect||probably benign
AA Change: D132E
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: D132E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1689|
|Coding Region Coverage||
|Validation Efficiency||96% (49/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in T cells exhibit decreased autophagy, decreased T cell proliferation, and increased T cell apoptosis. Mice homozygous for a knock-out allele exhibit decreased birth weight, neonatal lethality and abnormal autophagy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atg3||
(F):5'- TTCACATAAGAAGCACAGGCAGTC -3'
(R):5'- CACAAGGCTCTTAAATGTTAAGCC -3'
(F):5'- CAGTCAGAGGAAGGAGATTTCTTC -3'
(R):5'- GCCAACAGAAAAGAATTCTTAGTCC -3'