Incidental Mutation 'IGL01298:Atg3'
ID73214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg3
Ensembl Gene ENSMUSG00000022663
Gene Nameautophagy related 3
SynonymsPC3-96, 2610016C12Rik, Apg3l, APG3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01298
Quality Score
Status
Chromosome16
Chromosomal Location45158785-45188538 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45171673 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 88 (M88T)
Ref Sequence ENSEMBL: ENSMUSP00000023343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023343]
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

DomainStartEndE-ValueType
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 W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 N186T probably benign Het
Ank2 A G 3: 126,959,720 V304A possibly damaging Het
Baz1a G T 12: 54,954,809 P142Q probably damaging Het
Btbd1 G T 7: 81,794,307 probably null Het
Cacnb3 T C 15: 98,639,853 Y70H probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 W19R probably damaging Het
Dock10 T A 1: 80,531,245 I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 D58Y unknown Het
Gm7168 A T 17: 13,949,858 T496S probably benign Het
Gpc5 A G 14: 115,399,188 S428G probably benign Het
Haus8 T C 8: 71,253,113 E309G probably damaging Het
Ice1 A G 13: 70,604,904 L1021P possibly damaging Het
Krtap14 A T 16: 88,825,727 H121Q probably benign Het
Nwd1 T C 8: 72,662,331 V170A probably benign Het
Olfr338 T A 2: 36,377,448 M224K probably benign Het
Olfr803 T C 10: 129,692,029 Y4C probably damaging Het
Olfr938 G A 9: 39,078,724 T7I possibly damaging Het
Pfpl T C 19: 12,428,673 M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 probably benign Het
Proc T C 18: 32,123,552 N354S probably benign Het
Prss40 T G 1: 34,560,766 I47L probably benign Het
Tmprss7 T C 16: 45,664,175 R541G probably benign Het
Togaram2 T C 17: 71,716,513 V788A possibly damaging Het
Trbv19 T C 6: 41,178,904 Y70H probably damaging Het
Ttk C T 9: 83,865,142 S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Other mutations in Atg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Atg3 APN 16 45183811 critical splice donor site probably null
IGL02285:Atg3 APN 16 45178317 splice site probably benign
IGL02626:Atg3 APN 16 45183685 missense probably benign 0.04
R1494:Atg3 UTSW 16 45171760 splice site probably benign
R3625:Atg3 UTSW 16 45175261 missense probably benign 0.07
R3743:Atg3 UTSW 16 45178228 critical splice acceptor site probably null
R5047:Atg3 UTSW 16 45178232 missense probably benign 0.00
R5235:Atg3 UTSW 16 45159157 missense probably benign 0.15
R6696:Atg3 UTSW 16 45175281 missense possibly damaging 0.93
R7276:Atg3 UTSW 16 45162442 missense possibly damaging 0.70
R8072:Atg3 UTSW 16 45187685 missense probably damaging 1.00
R8501:Atg3 UTSW 16 45182931 missense probably damaging 1.00
Posted On2013-10-07