Incidental Mutation 'R6924:Atg7'
ID 539789
Institutional Source Beutler Lab
Gene Symbol Atg7
Ensembl Gene ENSMUSG00000030314
Gene Name autophagy related 7
Synonyms 1810013K23Rik, Apg7l
MMRRC Submission 045042-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6924 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 114620075-114837565 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 114686172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032457] [ENSMUST00000032457] [ENSMUST00000169310] [ENSMUST00000169310] [ENSMUST00000182428] [ENSMUST00000182428] [ENSMUST00000182793] [ENSMUST00000182793] [ENSMUST00000182902] [ENSMUST00000182902] [ENSMUST00000183165] [ENSMUST00000183165]
AlphaFold Q9D906
Predicted Effect probably null
Transcript: ENSMUST00000032457
SMART Domains Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000032457
SMART Domains Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169310
SMART Domains Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ATG7_N 9 319 1.5e-106 PFAM
Pfam:ThiF 329 643 7.9e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169310
SMART Domains Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ATG7_N 9 319 1.5e-106 PFAM
Pfam:ThiF 329 643 7.9e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000182428
SMART Domains Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.1e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000182428
SMART Domains Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.1e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000182793
SMART Domains Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000182793
SMART Domains Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000182902
SMART Domains Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000182902
SMART Domains Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000183165
SMART Domains Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 311 467 9.7e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000183165
SMART Domains Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 311 467 9.7e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A C 4: 39,450,884 (GRCm39) H30P probably damaging Het
Abhd6 A T 14: 8,049,850 (GRCm38) H213L possibly damaging Het
Adam22 T A 5: 8,417,322 (GRCm39) N40I possibly damaging Het
Ankrd42 A G 7: 92,231,224 (GRCm39) probably benign Het
Arhgap40 C T 2: 158,369,066 (GRCm39) R63C probably benign Het
Atf7ip T G 6: 136,536,755 (GRCm39) probably null Het
Car6 A C 4: 150,273,713 (GRCm39) probably null Het
Carmil1 A T 13: 24,259,667 (GRCm39) C302* probably null Het
Ccdc117 A T 11: 5,484,255 (GRCm39) M195K probably benign Het
Cep95 T C 11: 106,702,023 (GRCm39) M383T probably damaging Het
Col20a1 A G 2: 180,638,643 (GRCm39) E419G probably damaging Het
Cyp2d9 C G 15: 82,339,413 (GRCm39) R272G probably damaging Het
Dhx57 A T 17: 80,546,244 (GRCm39) M1380K possibly damaging Het
Dnah14 A G 1: 181,455,517 (GRCm39) S881G probably benign Het
Fcgbp T A 7: 27,793,248 (GRCm39) I1084N probably benign Het
Fgf17 A T 14: 70,878,981 (GRCm39) C21* probably null Het
Gemin4 A G 11: 76,103,162 (GRCm39) L533P probably damaging Het
Gkn3 T C 6: 87,365,784 (GRCm39) R12G probably benign Het
Gpr161 G T 1: 165,149,188 (GRCm39) R519L possibly damaging Het
Grin2a A G 16: 9,481,092 (GRCm39) V535A possibly damaging Het
Gys1 G A 7: 45,093,059 (GRCm39) probably null Het
Hfm1 C T 5: 106,998,276 (GRCm39) probably null Het
Hmcn2 T A 2: 31,240,517 (GRCm39) probably null Het
Hnrnpul2 T C 19: 8,808,873 (GRCm39) Y738H unknown Het
Hycc1 T C 5: 24,191,133 (GRCm39) probably null Het
Igsf23 A G 7: 19,675,684 (GRCm39) S141P possibly damaging Het
Lamc3 A C 2: 31,828,081 (GRCm39) M1423L probably benign Het
Lcmt2 T C 2: 120,970,484 (GRCm39) T200A probably benign Het
Lgr4 T C 2: 109,842,784 (GRCm39) V899A probably damaging Het
Macf1 T A 4: 123,421,145 (GRCm39) R36S possibly damaging Het
Mrgprb8 A G 7: 48,038,871 (GRCm39) K181E possibly damaging Het
Muc2 G A 7: 141,284,077 (GRCm39) V786M possibly damaging Het
Nacc2 T C 2: 25,980,041 (GRCm39) T132A probably damaging Het
Nsmce2 T A 15: 59,250,774 (GRCm39) I15K probably damaging Het
Or10p22 T G 10: 128,825,960 (GRCm39) Y60D probably damaging Het
Or4k15c A G 14: 50,321,307 (GRCm39) I277T possibly damaging Het
Otoa A T 7: 120,730,724 (GRCm39) probably null Het
Otogl A G 10: 107,644,502 (GRCm39) I1248T probably damaging Het
Ppp1r17 T A 6: 56,003,007 (GRCm39) D32E probably damaging Het
Relt A C 7: 100,496,468 (GRCm39) V427G probably damaging Het
Ric1 T A 19: 29,546,788 (GRCm39) V256D probably damaging Het
Samhd1 T C 2: 156,951,403 (GRCm39) T445A probably benign Het
Sepsecs T C 5: 52,821,646 (GRCm39) I189V probably benign Het
Shroom3 T A 5: 93,112,262 (GRCm39) D1793E probably damaging Het
Sim1 C T 10: 50,784,635 (GRCm39) T137I probably benign Het
Stk17b A T 1: 53,800,218 (GRCm39) D253E possibly damaging Het
Stmnd1 T C 13: 46,452,969 (GRCm39) V215A probably benign Het
Tcl1 A G 12: 105,185,015 (GRCm39) L65P probably damaging Het
Tiam2 A C 17: 3,558,070 (GRCm39) K1231N probably damaging Het
Tm9sf3 T C 19: 41,206,717 (GRCm39) Y476C probably damaging Het
Trim63 T C 4: 134,048,572 (GRCm39) S194P probably damaging Het
Ugt1a10 T A 1: 87,983,379 (GRCm39) I59N probably damaging Het
Vmn2r65 A G 7: 84,613,198 (GRCm39) F7S probably benign Het
Zfp775 T A 6: 48,596,589 (GRCm39) H154Q probably damaging Het
Zfp804b C T 5: 6,819,902 (GRCm39) V1018I 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
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
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'- TCACCTAGGTCTGGCTGAAT -3'
(R):5'- GACCAAATGCCCCTATTAAAGTCT -3'

Sequencing Primer
(F):5'- CTAGGTCTGGCTGAATTAGAATATTC -3'
(R):5'- AGACAGTGGCCAGCCATT -3'
Posted On 2018-11-06