Incidental Mutation 'R1494:Atg3'
ID 163841
Institutional Source Beutler Lab
Gene Symbol Atg3
Ensembl Gene ENSMUSG00000022663
Gene Name autophagy related 3
Synonyms 2610016C12Rik, Apg3l, PC3-96, APG3
MMRRC Submission 039545-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1494 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 44979192-45008901 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 44992123 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 benign
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.3%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,991 (GRCm39) E92G probably benign Het
Abca13 C T 11: 9,416,429 (GRCm39) Q4064* probably null Het
Abca14 G A 7: 119,815,524 (GRCm39) M257I probably benign Het
Acsm2 T A 7: 119,174,855 (GRCm39) C207S probably damaging Het
Actr3 A G 1: 125,344,018 (GRCm39) I67T probably benign Het
Adcy7 T C 8: 89,046,835 (GRCm39) V606A probably benign Het
Ahnak2 G A 12: 112,751,570 (GRCm39) S54F probably damaging Het
Ano6 T C 15: 95,870,388 (GRCm39) S848P probably damaging Het
Atp8b1 T A 18: 64,697,597 (GRCm39) S416C probably damaging Het
C2cd5 A G 6: 142,987,072 (GRCm39) probably benign Het
Capn11 A T 17: 45,954,735 (GRCm39) V134E probably damaging Het
Ccnd3 A G 17: 47,909,033 (GRCm39) probably null Het
Chaf1b T A 16: 93,684,998 (GRCm39) V149E probably damaging Het
Col5a2 T A 1: 45,542,074 (GRCm39) M1L unknown Het
Copa T C 1: 171,931,694 (GRCm39) I315T probably benign Het
Cyp3a57 A G 5: 145,318,077 (GRCm39) M353V probably damaging Het
Dcaf6 T C 1: 165,160,942 (GRCm39) M828V probably damaging Het
Dock2 T A 11: 34,232,761 (GRCm39) K1080* probably null Het
Dock6 A G 9: 21,726,038 (GRCm39) V1424A probably benign Het
Foxa1 T C 12: 57,588,984 (GRCm39) D412G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Galnt9 T A 5: 110,736,196 (GRCm39) S171T probably damaging Het
Glt6d1 A G 2: 25,684,260 (GRCm39) Y249H probably damaging Het
Gm37240 A T 3: 84,434,998 (GRCm39) Y104N probably damaging Het
Gpx8 C T 13: 113,182,149 (GRCm39) E95K possibly damaging Het
Grm1 T C 10: 10,565,450 (GRCm39) T953A probably benign Het
Helz T C 11: 107,494,889 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,647 (GRCm39) Y108C probably damaging Het
Kcnj13 A T 1: 87,316,939 (GRCm39) L58Q probably damaging Het
Mfsd14b A T 13: 65,243,485 (GRCm39) V53D probably damaging Het
Mrps7 G C 11: 115,494,952 (GRCm39) probably benign Het
Mug1 G A 6: 121,856,259 (GRCm39) G1013D probably damaging Het
Or52h7 T A 7: 104,214,038 (GRCm39) Y203* probably null Het
Or6c8 A T 10: 128,915,484 (GRCm39) M116K probably damaging Het
Pax6 T C 2: 105,521,955 (GRCm39) I19T probably benign Het
Pde8b G A 13: 95,184,304 (GRCm39) R416C probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Pygl G A 12: 70,246,504 (GRCm39) R348W probably damaging Het
Ralgapa1 T A 12: 55,731,309 (GRCm39) D1874V probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sncaip T C 18: 53,001,958 (GRCm39) S160P probably damaging Het
Sptbn4 A G 7: 27,133,719 (GRCm39) V79A probably damaging Het
Sptlc3 A T 2: 139,431,480 (GRCm39) Y334F possibly damaging Het
Supt16 A G 14: 52,409,916 (GRCm39) Y764H probably benign Het
Syne3 A T 12: 104,921,841 (GRCm39) V438E possibly damaging Het
Tagap1 T C 17: 7,224,210 (GRCm39) D162G probably damaging Het
Terb1 T C 8: 105,225,122 (GRCm39) probably benign Het
Themis3 C A 17: 66,866,949 (GRCm39) R97L probably benign Het
Tnk1 T A 11: 69,747,372 (GRCm39) E86D possibly damaging Het
Tnpo3 A G 6: 29,557,043 (GRCm39) L53P probably damaging Het
Trpc6 G A 9: 8,658,305 (GRCm39) R725K probably benign Het
Ttll11 T G 2: 35,685,391 (GRCm39) T566P probably damaging Het
Unc5c A T 3: 141,533,310 (GRCm39) T779S possibly damaging Het
Zfp42 A G 8: 43,748,638 (GRCm39) C288R possibly damaging Het
Zfp763 G A 17: 33,240,477 (GRCm39) T52I 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
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
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'- TGGAACTGAGCACCATCATCTGGC -3'
(R):5'- CCACTGTAACTGAAGCAGCAGACG -3'

Sequencing Primer
(F):5'- CTTCTGATACAGCAGACTGGG -3'
(R):5'- GCAGCAGACGCTACCTTTTC -3'
Posted On 2014-03-28