Incidental Mutation 'R3743:Atg3'
ID 270472
Institutional Source Beutler Lab
Gene Symbol Atg3
Ensembl Gene ENSMUSG00000022663
Gene Name autophagy related 3
Synonyms 2610016C12Rik, Apg3l, PC3-96, APG3
MMRRC Submission 040729-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3743 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 44979192-45008901 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 44998591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023343]
AlphaFold Q9CPX6
Predicted Effect probably null
Transcript: ENSMUST00000023343
SMART Domains Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663

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
Meta Mutation Damage Score 0.9589 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,348 (GRCm39) R168G probably damaging Het
1700030K09Rik A G 8: 73,199,013 (GRCm39) H140R probably benign Het
Adamts10 A G 17: 33,747,686 (GRCm39) I41V probably damaging Het
Arnt T C 3: 95,382,016 (GRCm39) V198A possibly damaging Het
Atmin T C 8: 117,683,312 (GRCm39) V324A probably benign Het
Ccdc88c G A 12: 100,914,843 (GRCm39) R464C probably damaging Het
Ccr7 G T 11: 99,036,033 (GRCm39) S296R possibly damaging Het
Cdh12 T A 15: 21,537,745 (GRCm39) S415R probably damaging Het
Cep162 A T 9: 87,099,230 (GRCm39) probably benign Het
Chd3 G A 11: 69,254,876 (GRCm39) R61* probably null Het
Cr2 A G 1: 194,832,274 (GRCm39) probably benign Het
Csf1r T C 18: 61,247,846 (GRCm39) S305P probably benign Het
Cyp4a31 A C 4: 115,423,716 (GRCm39) Q140P possibly damaging Het
Dhx40 A T 11: 86,661,985 (GRCm39) W691R probably damaging Het
Dlgap1 G A 17: 71,025,221 (GRCm39) probably null Het
Entr1 A G 2: 26,278,655 (GRCm39) probably benign Het
Exoc5 T C 14: 49,251,806 (GRCm39) I582V probably benign Het
Exoc5 A T 14: 49,270,864 (GRCm39) L387* probably null Het
Fbxw8 A G 5: 118,251,704 (GRCm39) S270P probably damaging Het
Fgf14 C A 14: 124,914,032 (GRCm39) G33V probably benign Het
Hoxd9 T A 2: 74,528,710 (GRCm39) V104E probably damaging Het
Igsf10 T C 3: 59,233,546 (GRCm39) H1729R possibly damaging Het
Irf8 C T 8: 121,480,310 (GRCm39) R274C probably damaging Het
Itgb4 G A 11: 115,894,496 (GRCm39) M1350I probably damaging Het
Lrrn4 A G 2: 132,711,786 (GRCm39) probably null Het
Map3k6 C T 4: 132,972,384 (GRCm39) T320I probably benign Het
Morc2a A G 11: 3,633,700 (GRCm39) E604G possibly damaging Het
Mtmr6 T C 14: 60,537,747 (GRCm39) I582T probably benign Het
Ninl A G 2: 150,792,168 (GRCm39) V785A probably benign Het
Obscn T C 11: 58,969,911 (GRCm39) E77G probably damaging Het
Or2b11 T C 11: 59,462,335 (GRCm39) Y77C probably damaging Het
Or2n1 T G 17: 38,486,793 (GRCm39) F273V probably damaging Het
Or4f61 A G 2: 111,922,965 (GRCm39) L27P probably benign Het
Pcdhb2 A G 18: 37,429,470 (GRCm39) D124G probably damaging Het
Pfkl G A 10: 77,832,179 (GRCm39) T304M probably damaging Het
Ppil4 T A 10: 7,696,935 (GRCm39) S483T unknown Het
Slc7a10 C T 7: 34,898,325 (GRCm39) T332I probably damaging Het
Spats2 T C 15: 99,108,795 (GRCm39) S382P probably benign Het
Stpg1 T A 4: 135,242,197 (GRCm39) D70E probably benign Het
Tmprss11e G A 5: 86,857,315 (GRCm39) Q333* probably null Het
Trpv1 A T 11: 73,145,128 (GRCm39) D430V probably damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Zc3h6 A G 2: 128,839,712 (GRCm39) Y175C probably damaging Het
Other mutations in Atg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Atg3 APN 16 45,004,174 (GRCm39) critical splice donor site probably null
IGL01298:Atg3 APN 16 44,992,036 (GRCm39) missense possibly damaging 0.78
IGL02285:Atg3 APN 16 44,998,680 (GRCm39) splice site probably benign
IGL02626:Atg3 APN 16 45,004,048 (GRCm39) missense probably benign 0.04
R1494:Atg3 UTSW 16 44,992,123 (GRCm39) splice site probably benign
R3625:Atg3 UTSW 16 44,995,624 (GRCm39) missense probably benign 0.07
R5047:Atg3 UTSW 16 44,998,595 (GRCm39) missense probably benign 0.00
R5235:Atg3 UTSW 16 44,979,520 (GRCm39) missense probably benign 0.15
R6696:Atg3 UTSW 16 44,995,644 (GRCm39) missense possibly damaging 0.93
R7276:Atg3 UTSW 16 44,982,805 (GRCm39) missense possibly damaging 0.70
R8072:Atg3 UTSW 16 45,008,048 (GRCm39) missense probably damaging 1.00
R8501:Atg3 UTSW 16 45,003,294 (GRCm39) missense probably damaging 1.00
R9117:Atg3 UTSW 16 45,006,564 (GRCm39) missense probably damaging 0.96
R9297:Atg3 UTSW 16 44,987,371 (GRCm39) missense possibly damaging 0.90
R9482:Atg3 UTSW 16 44,979,481 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATTCACATAAGAAGCACAGGCAGTC -3'
(R):5'- CAAGGCTCTTAAATGTTAAGCCAAC -3'

Sequencing Primer
(F):5'- CAGTCAGAGGAAGGAGATTTCTTC -3'
(R):5'- GCCAACAGAAAAGAATTCTTAGTCC -3'
Posted On 2015-03-18