Incidental Mutation 'R5555:Atg7'
ID 435334
Institutional Source Beutler Lab
Gene Symbol Atg7
Ensembl Gene ENSMUSG00000030314
Gene Name autophagy related 7
Synonyms 1810013K23Rik, Apg7l
MMRRC Submission 043112-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5555 (G1)
Quality Score 214
Status Not validated
Chromosome 6
Chromosomal Location 114620075-114837565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114679014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 366 (V366A)
Ref Sequence ENSEMBL: ENSMUSP00000138651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032457] [ENSMUST00000169310] [ENSMUST00000182428] [ENSMUST00000182793] [ENSMUST00000182902] [ENSMUST00000183165]
AlphaFold Q9D906
Predicted Effect probably damaging
Transcript: ENSMUST00000032457
AA Change: V366A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: V366A

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169310
AA Change: V409A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: V409A

DomainStartEndE-ValueType
Pfam:ATG7_N 9 319 1.5e-106 PFAM
Pfam:ThiF 329 643 7.9e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182428
AA Change: V366A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: V366A

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.1e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182793
AA Change: V366A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: V366A

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182902
AA Change: V366A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: V366A

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183165
AA Change: V327A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314
AA Change: V327A

DomainStartEndE-ValueType
Pfam:ThiF 311 467 9.7e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203130
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutation of this gene causes impairment of constitutive and starvation-induced autophagy resulting in defective protein degradation. Homozygous null mice die within 1 day of birth and have decreased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,581,702 (GRCm39) V192E probably damaging Het
Chil6 C T 3: 106,297,268 (GRCm39) S291N possibly damaging Het
D7Ertd443e T C 7: 133,951,320 (GRCm39) T118A probably benign Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dnah1 T A 14: 31,012,776 (GRCm39) T1837S probably damaging Het
Elapor2 T A 5: 9,472,296 (GRCm39) probably null Het
Ext1 A G 15: 52,951,539 (GRCm39) V515A probably damaging Het
Fer1l4 T C 2: 155,890,109 (GRCm39) E272G probably damaging Het
Fras1 T A 5: 96,825,236 (GRCm39) H1475Q probably benign Het
Grid1 T C 14: 35,242,662 (GRCm39) S672P possibly damaging Het
Gtpbp4 A G 13: 9,029,463 (GRCm39) probably null Het
Hsp90aa1 A T 12: 110,659,168 (GRCm39) V543E probably damaging Het
Irf5 T C 6: 29,531,145 (GRCm39) S4P probably benign Het
Kif2b G T 11: 91,466,286 (GRCm39) Q666K probably benign Het
Macc1 A T 12: 119,414,110 (GRCm39) H762L probably benign Het
Map1s C T 8: 71,369,751 (GRCm39) T941M probably damaging Het
Mrgprb1 T A 7: 48,097,523 (GRCm39) I130F probably benign Het
Nbeal1 T G 1: 60,276,311 (GRCm39) V684G possibly damaging Het
Ngly1 C T 14: 16,270,508 (GRCm38) Q173* probably null Het
Plcb3 A T 19: 6,943,587 (GRCm39) M104K probably benign Het
Plcg2 T A 8: 118,339,734 (GRCm39) Y1048* probably null Het
Ptprf T C 4: 118,082,121 (GRCm39) Y1039C probably damaging Het
Rab38 A G 7: 88,079,695 (GRCm39) Y29C probably damaging Het
Rcan2 T A 17: 44,347,921 (GRCm39) V210E probably damaging Het
Rptn A T 3: 93,304,008 (GRCm39) Q447L probably benign Het
Scel G A 14: 103,839,642 (GRCm39) R495K probably benign Het
Scn11a G T 9: 119,584,304 (GRCm39) P1437Q probably damaging Het
Sim2 A G 16: 93,910,315 (GRCm39) D239G probably damaging Het
Skap2 A G 6: 51,836,998 (GRCm39) Y356H probably damaging Het
Skint11 A G 4: 114,051,798 (GRCm39) T49A probably benign Het
Snx33 G A 9: 56,832,681 (GRCm39) H463Y probably benign Het
Steap2 T C 5: 5,727,544 (GRCm39) T264A possibly damaging Het
Stk40 T A 4: 126,028,852 (GRCm39) V238E probably damaging Het
Sun2 T C 15: 79,618,328 (GRCm39) D277G probably benign Het
Ttll9 T C 2: 152,832,020 (GRCm39) probably null Het
Vmn1r54 G A 6: 90,246,347 (GRCm39) C87Y probably benign Het
Other mutations in Atg7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02969:Atg7 APN 6 114,701,884 (GRCm39) missense possibly damaging 0.71
R1460:Atg7 UTSW 6 114,680,325 (GRCm39) missense probably damaging 0.99
R1467:Atg7 UTSW 6 114,835,943 (GRCm39) splice site probably benign
R1561:Atg7 UTSW 6 114,678,133 (GRCm39) missense possibly damaging 0.52
R1755:Atg7 UTSW 6 114,650,638 (GRCm39) missense possibly damaging 0.64
R1934:Atg7 UTSW 6 114,678,196 (GRCm39) missense probably damaging 0.98
R1962:Atg7 UTSW 6 114,683,191 (GRCm39) missense probably damaging 1.00
R1964:Atg7 UTSW 6 114,683,191 (GRCm39) missense probably damaging 1.00
R2064:Atg7 UTSW 6 114,680,324 (GRCm39) missense probably damaging 1.00
R3722:Atg7 UTSW 6 114,672,624 (GRCm39) missense probably damaging 0.99
R3870:Atg7 UTSW 6 114,674,008 (GRCm39) missense possibly damaging 0.71
R3926:Atg7 UTSW 6 114,650,639 (GRCm39) missense possibly damaging 0.81
R4044:Atg7 UTSW 6 114,678,939 (GRCm39) missense probably benign 0.00
R4111:Atg7 UTSW 6 114,690,255 (GRCm39) missense probably damaging 0.98
R4212:Atg7 UTSW 6 114,680,386 (GRCm39) missense probably benign 0.02
R4943:Atg7 UTSW 6 114,674,045 (GRCm39) missense probably benign 0.25
R5216:Atg7 UTSW 6 114,701,910 (GRCm39) missense probably damaging 0.96
R5465:Atg7 UTSW 6 114,629,493 (GRCm39) missense probably benign
R5618:Atg7 UTSW 6 114,650,660 (GRCm39) missense probably damaging 0.99
R5902:Atg7 UTSW 6 114,650,639 (GRCm39) missense possibly damaging 0.81
R5903:Atg7 UTSW 6 114,683,254 (GRCm39) nonsense probably null
R5980:Atg7 UTSW 6 114,657,197 (GRCm39) missense possibly damaging 0.80
R6031:Atg7 UTSW 6 114,648,194 (GRCm39) missense probably benign 0.01
R6031:Atg7 UTSW 6 114,648,194 (GRCm39) missense probably benign 0.01
R6178:Atg7 UTSW 6 114,701,856 (GRCm39) missense probably damaging 1.00
R6702:Atg7 UTSW 6 114,648,058 (GRCm39) splice site probably null
R6924:Atg7 UTSW 6 114,686,172 (GRCm39) critical splice donor site probably null
R6941:Atg7 UTSW 6 114,650,639 (GRCm39) missense possibly damaging 0.81
R7201:Atg7 UTSW 6 114,754,018 (GRCm39) missense probably damaging 1.00
R7561:Atg7 UTSW 6 114,650,002 (GRCm39) missense possibly damaging 0.80
R8070:Atg7 UTSW 6 114,674,041 (GRCm39) missense probably benign 0.03
R8170:Atg7 UTSW 6 114,678,151 (GRCm39) missense probably benign 0.11
R8329:Atg7 UTSW 6 114,663,057 (GRCm39) missense possibly damaging 0.70
R8367:Atg7 UTSW 6 114,663,060 (GRCm39) missense probably benign
R9084:Atg7 UTSW 6 114,678,896 (GRCm39) missense probably damaging 1.00
R9221:Atg7 UTSW 6 114,672,588 (GRCm39) missense possibly damaging 0.94
R9411:Atg7 UTSW 6 114,690,289 (GRCm39) missense probably benign 0.41
R9622:Atg7 UTSW 6 114,654,993 (GRCm39) missense probably benign 0.00
Z1088:Atg7 UTSW 6 114,672,647 (GRCm39) missense probably benign 0.15
Z1176:Atg7 UTSW 6 114,650,011 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- ATTCTGATTGCCCAGATCCC -3'
(R):5'- TGCTCTTAGAATACACAGATGCTG -3'

Sequencing Primer
(F):5'- CTCTGTTAGAAATAAGTCTGCAGCAC -3'
(R):5'- TGCTGAGAATACACAGATGCTG -3'
Posted On 2016-10-24