Incidental Mutation 'R9413:Atg13'
| ID |
711886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg13
|
| Ensembl Gene |
ENSMUSG00000027244 |
| Gene Name |
autophagy related 13 |
| Synonyms |
1110053A20Rik, D2Ertd391e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91504963-91540921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91511970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 286
(D286G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028678]
[ENSMUST00000076803]
|
| AlphaFold |
Q91YI1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028678
AA Change: D323G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244
AA Change: D323G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATG13
|
77 |
195 |
1.5e-10 |
PFAM |
|
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076803
AA Change: D286G
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244
AA Change: D286G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATG13
|
17 |
195 |
1.1e-35 |
PFAM |
|
low complexity region
|
386 |
405 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1382 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,126,422 (GRCm39) |
T1194S |
probably benign |
Het |
| Akr7a5 |
A |
T |
4: 139,038,059 (GRCm39) |
|
probably benign |
Het |
| Ap3b2 |
G |
T |
7: 81,127,757 (GRCm39) |
P140T |
possibly damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,887,531 (GRCm39) |
|
probably null |
Het |
| Arrdc2 |
C |
T |
8: 71,288,892 (GRCm39) |
R381H |
probably damaging |
Het |
| C1qtnf4 |
T |
C |
2: 90,720,648 (GRCm39) |
F307S |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
| Chsy3 |
C |
T |
18: 59,309,170 (GRCm39) |
A141V |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| D5Ertd579e |
A |
G |
5: 36,772,278 (GRCm39) |
S706P |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,917,705 (GRCm39) |
D545G |
|
Het |
| Ephb6 |
T |
C |
6: 41,591,509 (GRCm39) |
L222P |
|
Het |
| Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
| Gm6619 |
A |
T |
6: 131,468,370 (GRCm39) |
D167V |
unknown |
Het |
| Gucy2c |
T |
C |
6: 136,700,771 (GRCm39) |
D581G |
possibly damaging |
Het |
| Hectd1 |
G |
A |
12: 51,792,880 (GRCm39) |
R2471* |
probably null |
Het |
| Kif1a |
A |
T |
1: 92,949,019 (GRCm39) |
M1501K |
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,392,321 (GRCm39) |
V390A |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pex3 |
A |
G |
10: 13,410,454 (GRCm39) |
Y236H |
probably damaging |
Het |
| Pglyrp3 |
G |
T |
3: 91,930,106 (GRCm39) |
A91S |
probably damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,244,897 (GRCm39) |
S292P |
probably damaging |
Het |
| Prkci |
T |
C |
3: 31,097,915 (GRCm39) |
V455A |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
| Psd4 |
C |
T |
2: 24,287,472 (GRCm39) |
T468I |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,357,059 (GRCm39) |
E4203G |
|
Het |
| Snrnp27 |
T |
C |
6: 86,653,255 (GRCm39) |
D121G |
possibly damaging |
Het |
| Spag6 |
A |
T |
2: 18,739,029 (GRCm39) |
M320L |
probably benign |
Het |
| Spata16 |
T |
A |
3: 26,978,486 (GRCm39) |
M484K |
possibly damaging |
Het |
| Trim69 |
G |
A |
2: 122,009,083 (GRCm39) |
W381* |
probably null |
Het |
| Tubgcp3 |
A |
C |
8: 12,674,885 (GRCm39) |
I745S |
probably damaging |
Het |
| Ubxn2b |
A |
G |
4: 6,204,607 (GRCm39) |
D156G |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,158 (GRCm39) |
N644S |
possibly damaging |
Het |
|
| Other mutations in Atg13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00550:Atg13
|
APN |
2 |
91,522,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00688:Atg13
|
APN |
2 |
91,516,842 (GRCm39) |
splice site |
probably benign |
|
|
IGL01106:Atg13
|
APN |
2 |
91,526,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01309:Atg13
|
APN |
2 |
91,509,176 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03213:Atg13
|
APN |
2 |
91,515,512 (GRCm39) |
missense |
probably damaging |
0.96 |
|
neodwarf
|
UTSW |
2 |
91,515,110 (GRCm39) |
splice site |
probably null |
|
|
peanut
|
UTSW |
2 |
91,511,970 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0201:Atg13
|
UTSW |
2 |
91,515,107 (GRCm39) |
splice site |
probably null |
|
|
R0571:Atg13
|
UTSW |
2 |
91,509,063 (GRCm39) |
splice site |
probably benign |
|
|
R0606:Atg13
|
UTSW |
2 |
91,512,418 (GRCm39) |
missense |
probably benign |
|
|
R1445:Atg13
|
UTSW |
2 |
91,510,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2281:Atg13
|
UTSW |
2 |
91,509,770 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4739:Atg13
|
UTSW |
2 |
91,515,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Atg13
|
UTSW |
2 |
91,522,811 (GRCm39) |
nonsense |
probably null |
|
|
R5434:Atg13
|
UTSW |
2 |
91,515,110 (GRCm39) |
splice site |
probably null |
|
|
R6166:Atg13
|
UTSW |
2 |
91,506,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6891:Atg13
|
UTSW |
2 |
91,516,136 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7126:Atg13
|
UTSW |
2 |
91,510,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7571:Atg13
|
UTSW |
2 |
91,510,687 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7647:Atg13
|
UTSW |
2 |
91,519,006 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7767:Atg13
|
UTSW |
2 |
91,509,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8252:Atg13
|
UTSW |
2 |
91,510,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8473:Atg13
|
UTSW |
2 |
91,518,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9206:Atg13
|
UTSW |
2 |
91,512,406 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9225:Atg13
|
UTSW |
2 |
91,519,128 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9627:Atg13
|
UTSW |
2 |
91,509,098 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCCTTACATACCAGCTGC -3'
(R):5'- CCCAAGAGAATTAAGGTCCATGATG -3'
Sequencing Primer
(F):5'- CCTTACATACCAGCTGCAATATTAG -3'
(R):5'- ATTAAGGTCCATGATGGCTGCCTAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation