Incidental Mutation 'R3870:Atg7'
ID 276502
Institutional Source Beutler Lab
Gene Symbol Atg7
Ensembl Gene ENSMUSG00000030314
Gene Name autophagy related 7
Synonyms 1810013K23Rik, Apg7l
MMRRC Submission 040789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3870 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 114620075-114837565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114674008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 301 (S301P)
Ref Sequence ENSEMBL: ENSMUSP00000133215 (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: S258P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: S258P

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169310
AA Change: S301P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: S301P

DomainStartEndE-ValueType
Pfam:ATG7_N 9 319 1.5e-106 PFAM
Pfam:ThiF 329 643 7.9e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000182428
AA Change: S258P

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: S258P

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182793
AA Change: S258P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: S258P

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182902
AA Change: S258P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: S258P

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183165
AA Change: S219P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314
AA Change: S219P

DomainStartEndE-ValueType
Pfam:ThiF 311 467 9.7e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203130
Meta Mutation Damage Score 0.0626 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 90% (61/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,880,828 (GRCm39) probably null Het
Adam22 C A 5: 8,182,418 (GRCm39) C514F probably damaging Het
Akap8 G A 17: 32,536,813 (GRCm39) probably benign Het
Armcx2 A T X: 133,707,048 (GRCm39) V195E probably benign Het
Cc2d2a C A 5: 43,876,033 (GRCm39) Y1003* probably null Het
Ccdc93 A G 1: 121,390,843 (GRCm39) S272G probably benign Het
Ces1d C G 8: 93,901,714 (GRCm39) L418F probably benign Het
Cntnap5a A G 1: 115,987,979 (GRCm39) E170G probably damaging Het
Cplane1 A T 15: 8,247,948 (GRCm39) K1499M probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ehd4 T A 2: 119,967,434 (GRCm39) D120V probably damaging Het
Eif4g3 T A 4: 137,824,211 (GRCm39) V71E probably damaging Het
Exoc5 A G 14: 49,256,853 (GRCm39) probably benign Het
Glud1 T A 14: 34,047,537 (GRCm39) probably benign Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,752,626 (GRCm39) probably null Het
Gm11555 G T 11: 99,540,816 (GRCm39) C64* probably null Het
Gm5468 A G 15: 25,414,561 (GRCm39) probably benign Het
Gpatch2 T A 1: 187,054,491 (GRCm39) L74Q probably damaging Het
Hnrnpa0 G A 13: 58,275,713 (GRCm39) R139C probably damaging Het
Hrh1 A G 6: 114,457,880 (GRCm39) Y387C probably damaging Het
Ldb3 A T 14: 34,289,440 (GRCm39) D216E probably damaging Het
Lingo1 A T 9: 56,527,009 (GRCm39) S533T probably benign Het
Lmtk2 T G 5: 144,103,245 (GRCm39) probably benign Het
Map1s A G 8: 71,369,745 (GRCm39) E939G possibly damaging Het
Mast1 G A 8: 85,645,360 (GRCm39) T695I probably damaging Het
Mettl21e G A 1: 44,245,524 (GRCm39) R241W probably benign Het
Mfsd4a G A 1: 131,974,091 (GRCm39) T261I probably damaging Het
Mmel1 T C 4: 154,968,095 (GRCm39) S144P probably benign Het
Myo16 A T 8: 10,492,239 (GRCm39) H727L probably benign Het
Ncoa6 T C 2: 155,257,477 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,690 (GRCm39) R352G probably damaging Het
Oaf C T 9: 43,134,055 (GRCm39) R222Q probably benign Het
Or2ag2b T A 7: 106,418,047 (GRCm39) Y252* probably null Het
Pard3 T C 8: 128,136,167 (GRCm39) S847P probably damaging Het
Pgbd1 C T 13: 21,618,540 (GRCm39) R39H possibly damaging Het
Plcb1 A C 2: 135,167,591 (GRCm39) I462L probably damaging Het
Prex2 T C 1: 11,230,416 (GRCm39) V814A possibly damaging Het
Rasal3 G A 17: 32,612,522 (GRCm39) R780W possibly damaging Het
Rubcnl C T 14: 75,278,356 (GRCm39) P380L probably benign Het
Ryk A G 9: 102,768,427 (GRCm39) E359G probably damaging Het
Sall2 C A 14: 52,551,451 (GRCm39) L579F probably damaging Het
Satb2 A G 1: 56,930,379 (GRCm39) S215P probably damaging Het
Scg3 T C 9: 75,582,781 (GRCm39) probably benign Het
Slc35f5 A G 1: 125,490,098 (GRCm39) T65A probably benign Het
Snx33 T C 9: 56,834,024 (GRCm39) N15S probably benign Het
Stat2 T A 10: 128,113,762 (GRCm39) S180R probably benign Het
Stxbp2 A G 8: 3,684,079 (GRCm39) T129A probably damaging Het
Tas1r3 A T 4: 155,945,810 (GRCm39) C529S probably damaging Het
Tlr12 T A 4: 128,510,361 (GRCm39) M630L probably benign Het
Tnfrsf10b T G 14: 70,010,905 (GRCm39) D103E probably benign Het
Togaram1 A C 12: 65,049,419 (GRCm39) E1285D probably benign Het
Tppp A G 13: 74,178,891 (GRCm39) T111A probably benign Het
Trim12c T C 7: 103,997,544 (GRCm39) Q4R probably benign Het
Ttbk2 T G 2: 120,570,500 (GRCm39) S1149R probably damaging Het
Uncx T C 5: 139,533,120 (GRCm39) L395P probably damaging Het
Usp14 A G 18: 10,002,370 (GRCm39) S314P possibly damaging Het
Usp32 A T 11: 84,897,881 (GRCm39) Y1153* probably null Het
Vmn2r6 T C 3: 64,464,042 (GRCm39) E264G probably damaging Het
Vmn2r77 T C 7: 86,461,050 (GRCm39) F792S probably damaging Het
Vps13c A G 9: 67,792,008 (GRCm39) I425V probably benign Het
Vstm4 C T 14: 32,585,712 (GRCm39) A93V probably benign Het
Xrcc6 T A 15: 81,909,885 (GRCm39) S97T probably benign Het
Zscan20 A G 4: 128,480,218 (GRCm39) C758R probably damaging 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
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
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'- AATGCACAGACAGAGGCTGC -3'
(R):5'- CTCCAGACTAGAAAGCTCGC -3'

Sequencing Primer
(F):5'- AGACAGAGGCTGCCTGCAC -3'
(R):5'- AGGTGCTCACACTGCCATC -3'
Posted On 2015-04-06