Incidental Mutation 'IGL01298:Atg3'
ID 73214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg3
Ensembl Gene ENSMUSG00000022663
Gene Name autophagy related 3
Synonyms PC3-96, 2610016C12Rik, Apg3l, APG3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01298
Quality Score
Chromosome 16
Chromosomal Location 45158785-45188538 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45171673 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 88 (M88T)
Ref Sequence ENSEMBL: ENSMUSP00000023343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023343]
AlphaFold Q9CPX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000023343
AA Change: M88T

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: M88T

Pfam:Autophagy_N 8 153 1.4e-55 PFAM
Pfam:Autophagy_act_C 204 265 8.8e-23 PFAM
Pfam:Autophagy_C 286 310 2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150390
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,333,492 (GRCm38) W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 (GRCm38) H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 (GRCm38) N186T probably benign Het
Ank2 A G 3: 126,959,720 (GRCm38) V304A possibly damaging Het
Baz1a G T 12: 54,954,809 (GRCm38) P142Q probably damaging Het
Btbd1 G T 7: 81,794,307 (GRCm38) probably null Het
Cacnb3 T C 15: 98,639,853 (GRCm38) Y70H probably damaging Het
Cd4 G A 6: 124,879,378 (GRCm38) T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 (GRCm38) W19R probably damaging Het
Dock10 T A 1: 80,531,245 (GRCm38) I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 (GRCm38) D58Y unknown Het
Gm7168 A T 17: 13,949,858 (GRCm38) T496S probably benign Het
Gpc5 A G 14: 115,399,188 (GRCm38) S428G probably benign Het
Haus8 T C 8: 71,253,113 (GRCm38) E309G probably damaging Het
Ice1 A G 13: 70,604,904 (GRCm38) L1021P possibly damaging Het
Krtap14 A T 16: 88,825,727 (GRCm38) H121Q probably benign Het
Nwd1 T C 8: 72,662,331 (GRCm38) V170A probably benign Het
Olfr338 T A 2: 36,377,448 (GRCm38) M224K probably benign Het
Olfr803 T C 10: 129,692,029 (GRCm38) Y4C probably damaging Het
Olfr938 G A 9: 39,078,724 (GRCm38) T7I possibly damaging Het
Pfpl T C 19: 12,428,673 (GRCm38) M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 (GRCm38) probably benign Het
Proc T C 18: 32,123,552 (GRCm38) N354S probably benign Het
Prss40 T G 1: 34,560,766 (GRCm38) I47L probably benign Het
Tmprss7 T C 16: 45,664,175 (GRCm38) R541G probably benign Het
Togaram2 T C 17: 71,716,513 (GRCm38) V788A possibly damaging Het
Trbv19 T C 6: 41,178,904 (GRCm38) Y70H probably damaging Het
Ttk C T 9: 83,865,142 (GRCm38) S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 (GRCm38) T665A probably benign Het
Other mutations in Atg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Atg3 APN 16 45,183,811 (GRCm38) critical splice donor site probably null
IGL02285:Atg3 APN 16 45,178,317 (GRCm38) splice site probably benign
IGL02626:Atg3 APN 16 45,183,685 (GRCm38) missense probably benign 0.04
R1494:Atg3 UTSW 16 45,171,760 (GRCm38) splice site probably benign
R3625:Atg3 UTSW 16 45,175,261 (GRCm38) missense probably benign 0.07
R3743:Atg3 UTSW 16 45,178,228 (GRCm38) critical splice acceptor site probably null
R5047:Atg3 UTSW 16 45,178,232 (GRCm38) missense probably benign 0.00
R5235:Atg3 UTSW 16 45,159,157 (GRCm38) missense probably benign 0.15
R6696:Atg3 UTSW 16 45,175,281 (GRCm38) missense possibly damaging 0.93
R7276:Atg3 UTSW 16 45,162,442 (GRCm38) missense possibly damaging 0.70
R8072:Atg3 UTSW 16 45,187,685 (GRCm38) missense probably damaging 1.00
R8501:Atg3 UTSW 16 45,182,931 (GRCm38) missense probably damaging 1.00
R9117:Atg3 UTSW 16 45,186,201 (GRCm38) missense probably damaging 0.96
R9297:Atg3 UTSW 16 45,167,008 (GRCm38) missense possibly damaging 0.90
R9482:Atg3 UTSW 16 45,159,118 (GRCm38) missense probably benign 0.00
Posted On 2013-10-07