Incidental Mutation 'R4044:Atg7'
| ID |
313980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg7
|
| Ensembl Gene |
ENSMUSG00000030314 |
| Gene Name |
autophagy related 7 |
| Synonyms |
1810013K23Rik, Apg7l |
| MMRRC Submission |
040967-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4044 (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 114678939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 384
(V384A)
|
| 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: V341A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: V341A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
350 |
506 |
1.6e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169310
AA Change: V384A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: V384A
| Domain | Start | End | E-Value | Type |
|---|
|
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: V341A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: V341A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
350 |
506 |
1.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182793
AA Change: V341A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: V341A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
350 |
506 |
1.6e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182902
AA Change: V341A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: V341A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
350 |
506 |
1.6e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183165
AA Change: V302A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314
AA Change: V302A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
311 |
467 |
9.7e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203130
|
| Meta Mutation Damage Score |
0.0624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
A |
9: 89,044,347 (GRCm39) |
|
noncoding transcript |
Het |
| Ada |
A |
T |
2: 163,577,380 (GRCm39) |
I36N |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
| Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,144,662 (GRCm39) |
C66S |
possibly damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,894 (GRCm39) |
D14E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 66,024,461 (GRCm39) |
K278E |
probably benign |
Het |
| Dsg1a |
C |
A |
18: 20,457,087 (GRCm39) |
N153K |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 57,888,472 (GRCm39) |
I24N |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,172,358 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,810 (GRCm39) |
T706A |
possibly damaging |
Het |
| Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,159 (GRCm39) |
|
probably null |
Het |
| Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
| Klk1b4 |
A |
G |
7: 43,860,179 (GRCm39) |
M98V |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
| Ksr2 |
C |
T |
5: 117,693,127 (GRCm39) |
R192* |
probably null |
Het |
| L3mbtl4 |
T |
C |
17: 69,084,909 (GRCm39) |
S607P |
possibly damaging |
Het |
| Map6 |
T |
C |
7: 98,917,256 (GRCm39) |
C10R |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,467,712 (GRCm39) |
E322G |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,869,367 (GRCm39) |
N214S |
probably damaging |
Het |
| Npm3 |
T |
C |
19: 45,736,692 (GRCm39) |
E149G |
possibly damaging |
Het |
| Or4k35 |
C |
T |
2: 111,099,927 (GRCm39) |
V262I |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Orc3 |
G |
A |
4: 34,587,055 (GRCm39) |
Q345* |
probably null |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pals1 |
G |
A |
12: 78,871,613 (GRCm39) |
E398K |
probably benign |
Het |
| Pramel26 |
T |
A |
4: 143,538,170 (GRCm39) |
N267I |
probably benign |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,333,630 (GRCm39) |
V264D |
possibly damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,655,798 (GRCm39) |
|
probably benign |
Het |
| Sncaip |
A |
G |
18: 53,040,475 (GRCm39) |
T890A |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,749,135 (GRCm39) |
V612A |
probably benign |
Het |
| Tsnaxip1 |
G |
A |
8: 106,560,177 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,695,844 (GRCm39) |
I198T |
probably damaging |
Het |
| Wnt9b |
T |
C |
11: 103,622,824 (GRCm39) |
D193G |
probably damaging |
Het |
| Znrd2 |
T |
C |
19: 5,780,431 (GRCm39) |
E189G |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,843,899 (GRCm39) |
D979G |
probably damaging |
Het |
|
| Other mutations in Atg7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GACAGGGGCTTGCTTTCTGT -3'
(R):5'- ACCTAGGAGATGGGCAGC -3'
Sequencing Primer
(F):5'- ACGAGTTTCATCTTATTTCTACTGTG -3'
(R):5'- ATCAGTGTCCTAGCCACA -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation