Incidental Mutation 'R3926:Atg7'
ID 308281
Institutional Source Beutler Lab
Gene Symbol Atg7
Ensembl Gene ENSMUSG00000030314
Gene Name autophagy related 7
Synonyms 1810013K23Rik, Apg7l
MMRRC Submission 040821-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3926 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 114620075-114837565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114650639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 83 (T83M)
Ref Sequence ENSEMBL: ENSMUSP00000138404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032457] [ENSMUST00000169310] [ENSMUST00000182034] [ENSMUST00000182035] [ENSMUST00000182098] [ENSMUST00000182169] [ENSMUST00000182771] [ENSMUST00000182428] [ENSMUST00000182510] [ENSMUST00000182793] [ENSMUST00000182902] [ENSMUST00000183165]
AlphaFold Q9D906
Predicted Effect probably benign
Transcript: ENSMUST00000032457
AA Change: T60M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: T60M

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169310
AA Change: T103M

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: T103M

DomainStartEndE-ValueType
Pfam:ATG7_N 9 319 1.5e-106 PFAM
Pfam:ThiF 329 643 7.9e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000182034
AA Change: T76M

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138358
Gene: ENSMUSG00000030314
AA Change: T76M

DomainStartEndE-ValueType
PDB:3VX8|A 25 231 1e-39 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000182035
AA Change: T60M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138731
Gene: ENSMUSG00000030314
AA Change: T60M

DomainStartEndE-ValueType
PDB:3VX8|A 9 222 9e-40 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000182098
Predicted Effect possibly damaging
Transcript: ENSMUST00000182169
AA Change: T83M

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138404
Gene: ENSMUSG00000030314
AA Change: T83M

DomainStartEndE-ValueType
PDB:3VX8|A 32 110 2e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000182771
AA Change: T60M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138374
Gene: ENSMUSG00000030314
AA Change: T60M

DomainStartEndE-ValueType
PDB:3VX8|A 9 47 7e-8 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000182428
AA Change: T60M

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: T60M

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182510
AA Change: T60M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138300
Gene: ENSMUSG00000030314
AA Change: T60M

DomainStartEndE-ValueType
PDB:3VX8|A 9 159 8e-37 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000182793
AA Change: T60M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: T60M

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182902
AA Change: T60M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: T60M

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183127
Predicted Effect probably benign
Transcript: ENSMUST00000183165
AA Change: T60M

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314
AA Change: T60M

DomainStartEndE-ValueType
Pfam:ThiF 311 467 9.7e-38 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Arfgap2 C T 2: 91,105,150 (GRCm39) R405W probably damaging Het
Asb14 T C 14: 26,619,695 (GRCm39) I48T possibly damaging Het
Astn1 A T 1: 158,407,227 (GRCm39) I559F possibly damaging Het
Bco1 T C 8: 117,854,211 (GRCm39) S379P probably benign Het
Becn2 T C 1: 175,748,852 (GRCm39) V306A probably benign Het
Bst1 T C 5: 43,997,796 (GRCm39) V265A possibly damaging Het
Car11 T C 7: 45,349,915 (GRCm39) F45L probably benign Het
Cdkl2 T C 5: 92,180,998 (GRCm39) I214V possibly damaging Het
Cluap1 T A 16: 3,729,398 (GRCm39) S141T probably damaging Het
Col11a1 C T 3: 113,883,773 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Corin T G 5: 72,529,473 (GRCm39) D294A probably damaging Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ddx41 A G 13: 55,679,083 (GRCm39) L559P probably damaging Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dennd1b A G 1: 139,071,697 (GRCm39) N397D probably benign Het
Evc2 T A 5: 37,540,574 (GRCm39) L590Q probably damaging Het
Fhl5 A T 4: 25,214,790 (GRCm39) probably benign Het
Flg2 A G 3: 93,110,522 (GRCm39) Y850C unknown Het
Gal3st2b G T 1: 93,868,512 (GRCm39) V246L probably benign Het
Jam3 A T 9: 27,017,701 (GRCm39) I29K possibly damaging Het
Klhl1 A T 14: 96,584,316 (GRCm39) C305S possibly damaging Het
Lims2 A G 18: 32,090,996 (GRCm39) S327G probably benign Het
Lynx1 A G 15: 74,623,205 (GRCm39) Y76H probably damaging Het
Mycbp2 G A 14: 103,441,936 (GRCm39) P1943L probably damaging Het
Myo3a A G 2: 22,455,053 (GRCm39) D86G probably damaging Het
Nkx3-2 T A 5: 41,919,223 (GRCm39) Q255L probably damaging Het
Notch3 C T 17: 32,372,531 (GRCm39) R641H possibly damaging Het
Nr2c2 T A 6: 92,137,382 (GRCm39) M431K probably damaging Het
Ogfod3 T C 11: 121,074,255 (GRCm39) T265A probably damaging Het
Pcdh9 G T 14: 94,124,246 (GRCm39) Y641* probably null Het
Pcdha9 T A 18: 37,132,465 (GRCm39) D511E probably damaging Het
Pcdhgb8 A G 18: 37,895,443 (GRCm39) Y171C probably damaging Het
Pcnx1 T C 12: 82,005,505 (GRCm39) C1075R probably damaging Het
Pik3c3 C A 18: 30,444,382 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,621,097 (GRCm39) T854A probably benign Het
Pycr1 T C 11: 120,532,961 (GRCm39) T100A probably benign Het
Rhof T C 5: 123,242,593 (GRCm39) probably null Het
Scn9a T A 2: 66,357,217 (GRCm39) D1028V possibly damaging Het
Serpina3f T C 12: 104,185,740 (GRCm39) I315T possibly damaging Het
Slc1a6 T A 10: 78,648,715 (GRCm39) S479T possibly damaging Het
Tmcc1 T C 6: 116,019,874 (GRCm39) D166G probably damaging Het
Trav3-3 A G 14: 53,903,828 (GRCm39) K49E probably benign Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Utrn C T 10: 12,573,786 (GRCm39) V1095I probably benign Het
Zfp217 T C 2: 169,954,438 (GRCm39) D1038G probably damaging Het
Zfp709 A G 8: 72,644,397 (GRCm39) R609G probably damaging Het
Zfp729a T A 13: 67,768,310 (GRCm39) K640* probably null Het
Zfp986 A T 4: 145,619,090 (GRCm39) probably benign Het
Zkscan6 A T 11: 65,719,051 (GRCm39) H357L 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
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'- AGGGCATCCGTTCTATATTGGTC -3'
(R):5'- AAGAAGGCTCATCTTTCCCC -3'

Sequencing Primer
(F):5'- CAAGATCCACTGTTGTCTGCAAG -3'
(R):5'- AGAAGGCTCATCTTTCCCCTAATAG -3'
Posted On 2015-04-17