Incidental Mutation 'R3625:Atg3'
ID 269392
Institutional Source Beutler Lab
Gene Symbol Atg3
Ensembl Gene ENSMUSG00000022663
Gene Name autophagy related 3
Synonyms 2610016C12Rik, Apg3l, PC3-96, APG3
MMRRC Submission 040679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3625 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 44979192-45008901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44995624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 119 (I119N)
Ref Sequence ENSEMBL: ENSMUSP00000023343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023343]
AlphaFold Q9CPX6
Predicted Effect probably benign
Transcript: ENSMUST00000023343
AA Change: I119N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: I119N

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,425,591 (GRCm39) V80A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cdh12 G C 15: 21,358,842 (GRCm39) V89L probably damaging Het
Cdh3 C A 8: 107,270,310 (GRCm39) H396N probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dab2ip C A 2: 35,533,903 (GRCm39) S43* probably null Het
Dmxl2 A G 9: 54,300,927 (GRCm39) S2394P probably benign Het
F13a1 T G 13: 37,082,067 (GRCm39) N546H probably benign Het
Fbn2 T C 18: 58,194,814 (GRCm39) N1449S probably damaging Het
Flywch1 T C 17: 23,979,175 (GRCm39) probably benign Het
Grxcr2 T A 18: 42,131,883 (GRCm39) D62V probably damaging Het
H2bc8 T C 13: 23,755,625 (GRCm39) probably benign Het
Ifnab A T 4: 88,609,016 (GRCm39) I150N probably damaging Het
Igsf8 T C 1: 172,145,336 (GRCm39) V284A probably benign Het
Kdm1a T C 4: 136,288,419 (GRCm39) E388G possibly damaging Het
Map3k8 G A 18: 4,333,965 (GRCm39) R376C probably damaging Het
Map6 A T 7: 98,918,402 (GRCm39) T189S possibly damaging Het
Mms22l T A 4: 24,505,357 (GRCm39) S206T probably damaging Het
N4bp1 A G 8: 87,578,337 (GRCm39) L676S probably damaging Het
Nkx6-2 A G 7: 139,162,106 (GRCm39) F117S possibly damaging Het
Ociad2 C T 5: 73,481,173 (GRCm39) C72Y probably damaging Het
Or10w1 T A 19: 13,632,346 (GRCm39) C184* probably null Het
Or52e15 A T 7: 104,645,191 (GRCm39) F307I probably benign Het
Pcdhb6 G T 18: 37,469,193 (GRCm39) V21L probably damaging Het
Pogk G A 1: 166,231,081 (GRCm39) T82I probably damaging Het
Pramel51 T C 12: 88,142,731 (GRCm39) S296G probably benign Het
Prkcsh A G 9: 21,922,548 (GRCm39) E283G probably null Het
Prkd3 C T 17: 79,292,733 (GRCm39) R113H probably damaging Het
Rabgef1 T C 5: 130,240,961 (GRCm39) probably null Het
Rec8 T C 14: 55,859,954 (GRCm39) I234T possibly damaging Het
Sim1 A T 10: 50,857,432 (GRCm39) H394L probably benign Het
Thy1 A G 9: 43,958,028 (GRCm39) E52G probably damaging Het
Trav14n-3 A T 14: 53,607,543 (GRCm39) I4F probably damaging Het
Trim15 T C 17: 37,177,768 (GRCm39) T76A possibly damaging Het
Ttn A G 2: 76,599,145 (GRCm39) I19288T probably damaging Het
Vmn1r6 C T 6: 56,979,920 (GRCm39) T172I probably damaging Het
Vmn2r52 A T 7: 9,893,105 (GRCm39) L678Q probably damaging Het
Vpreb1a T C 16: 16,686,668 (GRCm39) H74R probably benign Het
Yeats4 T C 10: 117,056,273 (GRCm39) I100V probably benign Het
Zfp36 C A 7: 28,077,681 (GRCm39) A76S probably benign 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
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'- AGTCATGGTGATATAGATACGTTGC -3'
(R):5'- TTACTGTCCAGTGGAGTTACAC -3'

Sequencing Primer
(F):5'- TGAGGCATATTTTTGGAGGTACC -3'
(R):5'- ACCTGAATTCTATCTGCTGGG -3'
Posted On 2015-02-19