Incidental Mutation 'R9482:Atg3'
ID 716326
Institutional Source Beutler Lab
Gene Symbol Atg3
Ensembl Gene ENSMUSG00000022663
Gene Name autophagy related 3
Synonyms 2610016C12Rik, Apg3l, PC3-96, APG3
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9482 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 44979192-45008901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44979481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 7 (T7A)
Ref Sequence ENSEMBL: ENSMUSP00000023343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023343] [ENSMUST00000023344] [ENSMUST00000114600] [ENSMUST00000180636] [ENSMUST00000181177] [ENSMUST00000181750]
AlphaFold Q9CPX6
Predicted Effect probably benign
Transcript: ENSMUST00000023343
AA Change: T7A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: T7A

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 probably benign
Transcript: ENSMUST00000023344
SMART Domains Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 28 387 1.3e-54 PFAM
low complexity region 424 437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114600
SMART Domains Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
transmembrane domain 43 65 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:Nuc_sug_transp 107 155 1.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180636
SMART Domains Protein: ENSMUSP00000137821
Gene: ENSMUSG00000022664

DomainStartEndE-ValueType
Pfam:UAA 30 196 5.2e-8 PFAM
Pfam:TPT 31 177 3.3e-7 PFAM
Pfam:EamA 73 179 1.2e-7 PFAM
Pfam:Nuc_sug_transp 91 222 7.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181177
SMART Domains Protein: ENSMUSP00000137789
Gene: ENSMUSG00000022664

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 30 94 1.1e-12 PFAM
low complexity region 139 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181750
SMART Domains Protein: ENSMUSP00000137937
Gene: ENSMUSG00000022664

DomainStartEndE-ValueType
transmembrane domain 15 36 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,307,423 (GRCm39) V793A probably benign Het
Als2 G T 1: 59,231,109 (GRCm39) P834Q probably damaging Het
Alx1 T C 10: 102,864,335 (GRCm39) T45A probably benign Het
Angptl7 T G 4: 148,584,575 (GRCm39) S58R possibly damaging Het
Bpifc A T 10: 85,815,118 (GRCm39) S283T possibly damaging Het
C2cd2l T A 9: 44,227,914 (GRCm39) E231V probably damaging Het
Cdk5r2 T C 1: 74,894,504 (GRCm39) V83A probably damaging Het
Chst10 T C 1: 38,907,116 (GRCm39) E178G probably damaging Het
Crocc2 T A 1: 93,143,106 (GRCm39) L1236Q probably benign Het
Dleu7 T C 14: 62,514,351 (GRCm39) *210W probably null Het
Emc1 T G 4: 139,088,201 (GRCm39) V323G probably damaging Het
Fcrla T C 1: 170,745,949 (GRCm39) T278A probably benign Het
Flrt3 T C 2: 140,503,590 (GRCm39) T13A probably benign Het
Galntl6 A T 8: 58,310,549 (GRCm39) probably null Het
Gen1 A G 12: 11,305,186 (GRCm39) V203A possibly damaging Het
Gm3149 T A 14: 15,698,287 (GRCm39) V169E probably benign Het
Hjurp CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA C 1: 88,193,996 (GRCm39) probably benign Het
Hmcn1 A G 1: 150,610,281 (GRCm39) S1463P probably benign Het
Irag1 A T 7: 110,545,259 (GRCm39) D12E probably benign Het
Jsrp1 A T 10: 80,644,734 (GRCm39) I224N possibly damaging Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Kcnma1 A T 14: 23,441,033 (GRCm39) M591K probably benign Het
Kmt2d A C 15: 98,763,046 (GRCm39) W268G probably damaging Het
Knop1 A G 7: 118,447,710 (GRCm39) S417P unknown Het
Lpin3 T C 2: 160,746,416 (GRCm39) F692L probably damaging Het
Mycbp T C 4: 123,803,880 (GRCm39) C130R unknown Het
Myh1 T C 11: 67,108,745 (GRCm39) I1387T probably damaging Het
Nbeal2 T C 9: 110,463,066 (GRCm39) D1333G probably benign Het
Nedd4l G T 18: 65,021,031 (GRCm39) probably benign Het
Nucks1 A G 1: 131,846,744 (GRCm39) N7D probably benign Het
Nup210 A G 6: 91,019,608 (GRCm39) I991T probably damaging Het
Or4a72 C T 2: 89,405,953 (GRCm39) G39D probably damaging Het
Pcdhb3 A G 18: 37,434,736 (GRCm39) D234G probably damaging Het
Phyh C T 2: 4,923,863 (GRCm39) probably benign Het
Pik3c2a G A 7: 115,961,289 (GRCm39) T1070I probably benign Het
Prss52 C T 14: 64,351,129 (GRCm39) L305F probably damaging Het
Rasef T C 4: 73,708,933 (GRCm39) D100G probably benign Het
Rb1 A C 14: 73,443,493 (GRCm39) M754R probably damaging Het
Rbm6 T C 9: 107,669,208 (GRCm39) Q568R possibly damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serf2 T C 2: 121,281,206 (GRCm39) S41P possibly damaging Het
Serf2 C A 2: 121,281,205 (GRCm39) D40E possibly damaging Het
Sh2b1 AGCTC AGCTCAGCCACGGGGACCCGCTC 7: 126,066,768 (GRCm39) probably benign Het
Sympk G T 7: 18,771,986 (GRCm39) R350L possibly damaging Het
Tab2 C A 10: 7,795,124 (GRCm39) V379L probably damaging Het
Tnk1 T G 11: 69,743,666 (GRCm39) T485P probably benign Het
Trmt6 T C 2: 132,648,699 (GRCm39) T412A probably benign Het
Vgll3 A G 16: 65,636,229 (GRCm39) T182A probably benign Het
Zfat A G 15: 68,084,652 (GRCm39) S80P probably damaging Het
Zfp1004 C A 2: 150,034,711 (GRCm39) T344K probably benign Het
Zfyve26 A G 12: 79,291,239 (GRCm39) L2122S 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
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
Predicted Primers PCR Primer
(F):5'- GTCACGTGAGGCCTTAGGTG -3'
(R):5'- TCACTCTAGTGGAAGCGGGG -3'

Sequencing Primer
(F):5'- TTCAGTGGAGCTCCGGG -3'
(R):5'- AAGCCAGCAAGCCTTGG -3'
Posted On 2022-07-18