Incidental Mutation 'R4111:Atg7'
| ID |
500489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg7
|
| Ensembl Gene |
ENSMUSG00000030314 |
| Gene Name |
autophagy related 7 |
| Synonyms |
1810013K23Rik, Apg7l |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4111 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
114620075-114837565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 114690255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 596
(G596R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032457]
[ENSMUST00000169310]
[ENSMUST00000182428]
[ENSMUST00000182793]
[ENSMUST00000182902]
[ENSMUST00000183165]
|
| AlphaFold |
Q9D906 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032457
AA Change: G596R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: G596R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
350 |
506 |
1.6e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169310
AA Change: G639R
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: G639R
| 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 damaging
Transcript: ENSMUST00000182428
AA Change: G596R
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: G596R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
350 |
506 |
1.1e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182793
AA Change: G596R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: G596R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
350 |
506 |
1.6e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182902
AA Change: G596R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: G596R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
350 |
506 |
1.6e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183165
AA Change: G557R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314
AA Change: G557R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
311 |
467 |
9.7e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Acot10 |
A |
T |
15: 20,666,612 (GRCm39) |
L43Q |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,730,903 (GRCm39) |
S894P |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,883,570 (GRCm39) |
G1320C |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,873,010 (GRCm39) |
V423A |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,105,064 (GRCm39) |
L586* |
probably null |
Het |
| Cdh17 |
T |
C |
4: 11,814,628 (GRCm39) |
S728P |
probably damaging |
Het |
| Ctu2 |
G |
A |
8: 123,203,256 (GRCm39) |
R24Q |
possibly damaging |
Het |
| Dclk3 |
T |
C |
9: 111,298,148 (GRCm39) |
I564T |
probably damaging |
Het |
| Ddx39b |
T |
A |
17: 35,462,340 (GRCm39) |
I42N |
possibly damaging |
Het |
| Defa39 |
T |
C |
8: 22,192,679 (GRCm39) |
T106A |
possibly damaging |
Het |
| Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
| Dzip1 |
T |
A |
14: 119,114,645 (GRCm39) |
K837* |
probably null |
Het |
| Epha1 |
G |
A |
6: 42,335,772 (GRCm39) |
T955M |
possibly damaging |
Het |
| Etfbkmt |
T |
C |
6: 149,046,089 (GRCm39) |
|
probably benign |
Het |
| Etfrf1 |
T |
C |
6: 145,161,098 (GRCm39) |
Y23H |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
T |
C |
1: 135,095,008 (GRCm39) |
T79A |
possibly damaging |
Het |
| Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
| Ifnar1 |
C |
A |
16: 91,293,046 (GRCm39) |
P230T |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,109,090 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
G |
C |
6: 126,716,737 (GRCm39) |
R51G |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,033,766 (GRCm39) |
T1037M |
probably benign |
Het |
| Or10g9 |
C |
A |
9: 39,912,194 (GRCm39) |
E110* |
probably null |
Het |
| Or4a2 |
C |
A |
2: 89,248,444 (GRCm39) |
L104F |
probably benign |
Het |
| Or5an6 |
T |
C |
19: 12,371,665 (GRCm39) |
F13L |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,896,999 (GRCm39) |
I45N |
probably damaging |
Het |
| Pask |
A |
G |
1: 93,238,540 (GRCm39) |
V1315A |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,676,475 (GRCm39) |
I210F |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,849,050 (GRCm39) |
Y80N |
possibly damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Rtn2 |
T |
C |
7: 19,020,769 (GRCm39) |
S81P |
probably damaging |
Het |
| Sbf2 |
G |
A |
7: 110,027,449 (GRCm39) |
P470S |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
| Sox30 |
A |
G |
11: 45,908,041 (GRCm39) |
Y736C |
probably benign |
Het |
| Srsf3-ps |
A |
T |
11: 98,516,223 (GRCm39) |
V50D |
probably damaging |
Het |
| Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
| Tbr1 |
C |
T |
2: 61,642,076 (GRCm39) |
P184L |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,981,091 (GRCm39) |
N1091S |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,032,264 (GRCm39) |
F1008S |
probably benign |
Het |
| Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,438 (GRCm39) |
S206T |
probably damaging |
Het |
| Vmn2r1 |
A |
C |
3: 63,997,176 (GRCm39) |
K277N |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,992 (GRCm39) |
E2931G |
probably damaging |
Het |
| Wdr70 |
G |
T |
15: 8,006,472 (GRCm39) |
Q360K |
probably benign |
Het |
| Wdr90 |
G |
T |
17: 26,068,342 (GRCm39) |
Q1329K |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,842,183 (GRCm39) |
N37S |
probably benign |
Het |
| Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
| Zfp964 |
T |
A |
8: 70,116,754 (GRCm39) |
S450R |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,081,907 (GRCm39) |
|
probably benign |
Het |
| Zmynd10 |
A |
T |
9: 107,426,251 (GRCm39) |
K133* |
probably null |
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 |
|
R4044:Atg7
|
UTSW |
6 |
114,678,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGGTGCCCATTTGAAGAAACTC -3'
(R):5'- GGTTCATCTCTTCCCAGCAG -3'
Sequencing Primer
(F):5'- ATTTGAAGAAACTCACCCCCTTTC -3'
(R):5'- TTCCCAGCAGTGTCCCCAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation