Incidental Mutation 'R5047:Atg3'
ID 453353
Institutional Source Beutler Lab
Gene Symbol Atg3
Ensembl Gene ENSMUSG00000022663
Gene Name autophagy related 3
Synonyms 2610016C12Rik, Apg3l, PC3-96, APG3
MMRRC Submission 042637-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5047 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 44979192-45008901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44998595 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CPX6
Predicted Effect probably benign
Transcript: ENSMUST00000023343
AA Change: D132E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: D132E

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 0.1689 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.5%
Validation Efficiency 96% (49/51)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik A T 14: 44,406,698 (GRCm39) M117K possibly damaging Het
Adamts13 G A 2: 26,886,922 (GRCm39) A1020T probably damaging Het
Armh4 G T 14: 50,007,895 (GRCm39) A526D probably damaging Het
Blzf1 A G 1: 164,134,037 (GRCm39) M4T possibly damaging Het
Cdon G A 9: 35,389,935 (GRCm39) R863Q probably damaging Het
Cyp2d40 C T 15: 82,644,460 (GRCm39) R255H unknown Het
Evi5 T C 5: 107,969,740 (GRCm39) K57R probably damaging Het
Fam186b T C 15: 99,178,567 (GRCm39) E253G probably damaging Het
Fcgr1 A T 3: 96,193,200 (GRCm39) F266I probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gm10142 G T 10: 77,551,996 (GRCm39) C119F probably damaging Het
Gpr63 A G 4: 25,008,202 (GRCm39) S309G probably benign Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Jmy T A 13: 93,578,080 (GRCm39) H696L possibly damaging Het
Kif13a T C 13: 46,941,561 (GRCm39) H972R probably benign Het
Lama1 C T 17: 68,050,276 (GRCm39) Q296* probably null Het
Lmf1 C T 17: 25,850,812 (GRCm39) probably benign Het
Lpp T C 16: 24,790,596 (GRCm39) C352R probably damaging Het
Ltbp1 T C 17: 75,599,881 (GRCm39) probably benign Het
Maml3 G T 3: 51,598,262 (GRCm39) D807E possibly damaging Het
Mdc1 T A 17: 36,158,736 (GRCm39) V372D probably benign Het
Mst1 C A 9: 107,961,508 (GRCm39) H579Q probably benign Het
Or11g24 T C 14: 50,662,696 (GRCm39) F240S probably damaging Het
Or1r1 T C 11: 73,875,204 (GRCm39) T77A probably damaging Het
Or4a39 A G 2: 89,237,057 (GRCm39) V122A probably damaging Het
Or8d1 G A 9: 38,766,585 (GRCm39) V76I probably benign Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Phlpp2 A T 8: 110,640,251 (GRCm39) H472L probably benign Het
Plscr3 A G 11: 69,740,917 (GRCm39) probably null Het
Rab7 A T 6: 87,982,205 (GRCm39) probably null Het
Rad50 A G 11: 53,565,523 (GRCm39) probably null Het
Scgb1b20 A G 7: 33,072,737 (GRCm39) probably null Het
Scn9a A C 2: 66,392,824 (GRCm39) L256R probably damaging Het
Spag1 G T 15: 36,195,588 (GRCm39) Q260H probably damaging Het
Tatdn3 T A 1: 190,778,475 (GRCm39) I239F probably damaging Het
Tcof1 A G 18: 60,964,986 (GRCm39) S578P possibly damaging Het
Top3b A G 16: 16,709,282 (GRCm39) T657A probably benign Het
Tstd3 A G 4: 21,759,621 (GRCm39) probably null Het
Ttc4 A T 4: 106,525,435 (GRCm39) L233H probably damaging Het
Vmn2r130 T A 17: 23,282,794 (GRCm39) M158K probably benign Het
Yeats2 A T 16: 20,027,215 (GRCm39) Q822L probably damaging Het
Zfp976 A T 7: 42,262,843 (GRCm39) C331* probably null 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
R3743:Atg3 UTSW 16 44,998,591 (GRCm39) critical splice acceptor site probably null
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'- TTCACATAAGAAGCACAGGCAGTC -3'
(R):5'- CACAAGGCTCTTAAATGTTAAGCC -3'

Sequencing Primer
(F):5'- CAGTCAGAGGAAGGAGATTTCTTC -3'
(R):5'- GCCAACAGAAAAGAATTCTTAGTCC -3'
Posted On 2017-02-01