Incidental Mutation 'R4943:Atg7'
ID 383259
Institutional Source Beutler Lab
Gene Symbol Atg7
Ensembl Gene ENSMUSG00000030314
Gene Name autophagy related 7
Synonyms 1810013K23Rik, Apg7l
MMRRC Submission 042540-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4943 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 114620075-114837565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114674045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 231 (Q231P)
Ref Sequence ENSEMBL: ENSMUSP00000138600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032457] [ENSMUST00000169310] [ENSMUST00000182428] [ENSMUST00000182793] [ENSMUST00000182902] [ENSMUST00000183165]
AlphaFold Q9D906
Predicted Effect probably benign
Transcript: ENSMUST00000032457
AA Change: Q270P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: Q270P

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169310
AA Change: Q313P

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: Q313P

DomainStartEndE-ValueType
Pfam:ATG7_N 9 319 1.5e-106 PFAM
Pfam:ThiF 329 643 7.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182428
AA Change: Q270P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: Q270P

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182793
AA Change: Q270P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: Q270P

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182902
AA Change: Q270P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: Q270P

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183165
AA Change: Q231P

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314
AA Change: Q231P

DomainStartEndE-ValueType
Pfam:ThiF 311 467 9.7e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203130
Meta Mutation Damage Score 0.0709 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 99% (81/82)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,393,446 (GRCm39) T366K possibly damaging Het
2510039O18Rik T A 4: 148,029,555 (GRCm39) H508Q probably damaging Het
Aadacl4fm5 T A 4: 144,504,290 (GRCm39) E287V probably benign Het
Actl9 G A 17: 33,652,059 (GRCm39) V40M possibly damaging Het
Aen T A 7: 78,552,109 (GRCm39) V23E probably damaging Het
Agbl1 G A 7: 76,069,764 (GRCm39) R432K probably benign Het
Akap13 T A 7: 75,398,988 (GRCm39) F2689I probably benign Het
Arhgap45 A G 10: 79,862,337 (GRCm39) S475G probably benign Het
Calr3 A T 8: 73,185,221 (GRCm39) V226D probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Cops4 A T 5: 100,695,292 (GRCm39) M404L probably benign Het
Cpne4 A T 9: 104,896,972 (GRCm39) H375L probably damaging Het
D16Ertd472e A T 16: 78,372,877 (GRCm39) V20D probably damaging Het
Dcun1d5 T C 9: 7,186,844 (GRCm39) F55L possibly damaging Het
Dhx8 T A 11: 101,628,526 (GRCm39) L93* probably null Het
Dtx4 A G 19: 12,478,424 (GRCm39) L53P probably damaging Het
Ern2 C T 7: 121,772,481 (GRCm39) R659H possibly damaging Het
Etl4 G A 2: 20,812,092 (GRCm39) A1392T probably benign Het
Fat2 T C 11: 55,169,859 (GRCm39) R2967G probably benign Het
Fat4 A G 3: 39,034,322 (GRCm39) D2658G probably benign Het
Ftsj3 A G 11: 106,140,344 (GRCm39) V808A probably damaging Het
Gm10447 A T 11: 53,347,216 (GRCm39) Y104* probably null Het
Gm27013 A T 6: 130,653,163 (GRCm39) C766* probably null Het
Gm5581 A G 6: 131,144,088 (GRCm39) noncoding transcript Het
Gpr158 G A 2: 21,831,968 (GRCm39) V1023I probably damaging Het
Hectd2 T G 19: 36,581,647 (GRCm39) probably null Het
Hmcn2 T C 2: 31,225,504 (GRCm39) Y138H probably damaging Het
Kif28 T C 1: 179,541,516 (GRCm39) I369V probably benign Het
Kif4-ps C T 12: 101,115,476 (GRCm39) noncoding transcript Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Map3k20 G A 2: 72,202,262 (GRCm39) M164I possibly damaging Het
Map4k4 A G 1: 40,058,754 (GRCm39) I1050V probably damaging Het
Med23 T A 10: 24,751,567 (GRCm39) V133D possibly damaging Het
Mycn A T 12: 12,987,080 (GRCm39) L439Q probably damaging Het
Myh2 G T 11: 67,088,143 (GRCm39) A1920S probably damaging Het
Myom3 T C 4: 135,541,585 (GRCm39) V1392A possibly damaging Het
Nktr T A 9: 121,549,020 (GRCm39) probably benign Het
Nme3 A G 17: 25,115,697 (GRCm39) K48E probably damaging Het
Nt5dc1 T C 10: 34,186,387 (GRCm39) R58G probably damaging Het
Nup205 A G 6: 35,201,574 (GRCm39) E1270G probably damaging Het
Or12d16-ps1 G T 17: 37,705,916 (GRCm39) A162S probably benign Het
Or4e2 C G 14: 52,688,051 (GRCm39) Y60* probably null Het
Or51l4 A T 7: 103,404,503 (GRCm39) F96L probably benign Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pclo T C 5: 14,762,651 (GRCm39) L3708P unknown Het
Pde4dip A T 3: 97,662,827 (GRCm39) N590K probably damaging Het
Prokr1 A C 6: 87,558,806 (GRCm39) I193S possibly damaging Het
Pxdc1 C A 13: 34,822,989 (GRCm39) probably null Het
Rapgef2 A T 3: 78,971,854 (GRCm39) S1494T probably benign Het
Rbms3 G C 9: 116,507,573 (GRCm39) probably benign Het
Reep3 T A 10: 66,932,042 (GRCm39) probably benign Het
Rwdd2b T C 16: 87,231,422 (GRCm39) K244R possibly damaging Het
Srrm2 T C 17: 24,041,389 (GRCm39) V2533A possibly damaging Het
Stab2 T C 10: 86,790,026 (GRCm39) Y580C probably damaging Het
Stac2 G T 11: 97,932,398 (GRCm39) S198R probably benign Het
Tdp2 T A 13: 25,022,248 (GRCm39) N222K probably benign Het
Tex21 A G 12: 76,268,474 (GRCm39) S103P probably damaging Het
Thbs1 A T 2: 117,943,930 (GRCm39) I183F probably damaging Het
Tm9sf1 T C 14: 55,878,625 (GRCm39) I256V probably damaging Het
Tmem207 C T 16: 26,336,603 (GRCm39) W50* probably null Het
Trpm2 C A 10: 77,801,841 (GRCm39) V75L probably damaging Het
Vmn1r227 A T 17: 20,955,623 (GRCm39) noncoding transcript Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vmn2r75 A T 7: 85,814,705 (GRCm39) S263T probably damaging Het
Wdr64 G A 1: 175,547,882 (GRCm39) V140I probably benign Het
Xpo4 T C 14: 57,875,697 (GRCm39) I145M possibly damaging Het
Zan G A 5: 137,456,152 (GRCm39) T1336I unknown Het
Zdbf2 G T 1: 63,342,073 (GRCm39) V151F possibly damaging Het
Zfhx3 T C 8: 109,674,949 (GRCm39) S2000P probably damaging Het
Zfp65 T A 13: 67,859,099 (GRCm39) I12F probably damaging Het
Zfp703 C A 8: 27,469,619 (GRCm39) Q428K probably benign Het
Zfp947 A C 17: 22,364,813 (GRCm39) M287R probably benign Het
Zfp976 A T 7: 42,261,846 (GRCm39) 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
R5216:Atg7 UTSW 6 114,701,910 (GRCm39) missense probably damaging 0.96
R5465:Atg7 UTSW 6 114,629,493 (GRCm39) missense probably benign
R5555:Atg7 UTSW 6 114,679,014 (GRCm39) missense probably damaging 1.00
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'- AGAGTGATTGCATGCCTTGG -3'
(R):5'- TCCAGACTAGAAAGCTCGCTAG -3'

Sequencing Primer
(F):5'- GGATTCTCAGCAGCCACTCTAG -3'
(R):5'- AGGTGCTCACACTGCCATC -3'
Posted On 2016-04-27