Incidental Mutation 'IGL00823:Atg5'
ID 9116
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg5
Ensembl Gene ENSMUSG00000038160
Gene Name autophagy related 5
Synonyms 3110067M24Rik, 2010107M05Rik, Paddy, Apg5l
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00823
Quality Score
Status
Chromosome 10
Chromosomal Location 44144354-44240287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44239040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 274 (T274A)
Ref Sequence ENSEMBL: ENSMUSP00000044769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039286]
AlphaFold Q99J83
Predicted Effect probably benign
Transcript: ENSMUST00000039286
AA Change: T274A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044769
Gene: ENSMUSG00000038160
AA Change: T274A

DomainStartEndE-ValueType
Pfam:APG5 79 270 2.6e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158635
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Two transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutation of this gene results in impaired autophagy due to absence of autolysosomes. Homozygotes die within 1 day of birth, have shorter survival times and reduced amino acid levels under fasting conditions. Homozygotes for a gene trap insertion mutationin this gene show no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,026,381 (GRCm39) probably benign Het
Adam5 T C 8: 25,308,758 (GRCm39) E39G probably benign Het
Anapc7 G A 5: 122,571,540 (GRCm39) W205* probably null Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arhgef10 T A 8: 14,990,378 (GRCm39) probably benign Het
Baiap2l2 G T 15: 79,168,765 (GRCm39) probably benign Het
Brap T A 5: 121,803,290 (GRCm39) M146K probably damaging Het
Brpf1 T C 6: 113,298,847 (GRCm39) S1074P probably benign Het
Camta1 A C 4: 151,169,058 (GRCm39) I231R probably benign Het
Ccdc15 C T 9: 37,231,709 (GRCm39) G205D probably benign Het
Cd6 G T 19: 10,773,758 (GRCm39) probably benign Het
Cdh17 T G 4: 11,783,412 (GRCm39) S219R possibly damaging Het
Cgn G A 3: 94,674,519 (GRCm39) R873W probably damaging Het
Ctnna3 C T 10: 63,373,322 (GRCm39) P41L possibly damaging Het
Dmbt1 T C 7: 130,659,888 (GRCm39) W484R probably benign Het
Dmd A G X: 83,469,419 (GRCm39) probably null Het
Dnah17 C T 11: 117,937,987 (GRCm39) V3347I probably benign Het
Fgd5 T A 6: 91,965,440 (GRCm39) S400T possibly damaging Het
Kitl C A 10: 99,923,206 (GRCm39) probably benign Het
Lamc3 A T 2: 31,808,533 (GRCm39) D763V probably damaging Het
Lgmn T C 12: 102,364,435 (GRCm39) probably benign Het
Lpcat2 T G 8: 93,591,598 (GRCm39) W81G possibly damaging Het
Myh13 A G 11: 67,246,773 (GRCm39) I1165V probably benign Het
Nf1 A G 11: 79,456,343 (GRCm39) D599G probably damaging Het
Nin T C 12: 70,061,567 (GRCm39) N2099S probably benign Het
Nlrc4 T C 17: 74,754,985 (GRCm39) D77G probably benign Het
Otub1 A G 19: 7,181,416 (GRCm39) probably benign Het
Pabir2 A T X: 52,334,208 (GRCm39) C222S probably damaging Het
Pah A G 10: 87,406,193 (GRCm39) Y174C probably null Het
Rbbp5 G A 1: 132,417,444 (GRCm39) V88I probably damaging Het
Scn1a C T 2: 66,155,279 (GRCm39) R560H probably benign Het
Snx5 T C 2: 144,097,485 (GRCm39) I217V probably benign Het
Syne2 T C 12: 76,036,016 (GRCm39) S3769P probably damaging Het
Tent2 T C 13: 93,322,905 (GRCm39) T15A probably benign Het
Tmem255b T C 8: 13,507,054 (GRCm39) M261T probably benign Het
Top3b T C 16: 16,705,486 (GRCm39) I417T probably damaging Het
Tspan2 T C 3: 102,665,549 (GRCm39) probably null Het
Ttn T C 2: 76,540,057 (GRCm39) T34310A possibly damaging Het
Ush2a G A 1: 188,643,640 (GRCm39) C4334Y possibly damaging Het
Wdpcp A G 11: 21,609,995 (GRCm39) D21G probably damaging Het
Yy2 A C X: 156,351,207 (GRCm39) D186E probably benign Het
Other mutations in Atg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0041:Atg5 UTSW 10 44,165,938 (GRCm39) missense probably benign 0.20
R2094:Atg5 UTSW 10 44,195,544 (GRCm39) missense probably damaging 1.00
R4906:Atg5 UTSW 10 44,239,046 (GRCm39) makesense probably null
R5718:Atg5 UTSW 10 44,238,983 (GRCm39) missense probably benign 0.01
R6194:Atg5 UTSW 10 44,170,612 (GRCm39) missense probably damaging 1.00
R6660:Atg5 UTSW 10 44,170,651 (GRCm39) missense probably benign
R7070:Atg5 UTSW 10 44,162,150 (GRCm39) missense probably damaging 1.00
R7677:Atg5 UTSW 10 44,223,035 (GRCm39) missense probably damaging 1.00
R8302:Atg5 UTSW 10 44,162,115 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06