Incidental Mutation 'IGL00688:Atg13'
| ID |
12480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atg13
|
| Ensembl Gene |
ENSMUSG00000027244 |
| Gene Name |
autophagy related 13 |
| Synonyms |
1110053A20Rik, D2Ertd391e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91504963-91540921 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 91516842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028678]
[ENSMUST00000076803]
|
| AlphaFold |
Q91YI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028678
|
| SMART Domains |
Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244
| 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
|
| SMART Domains |
Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATG13
|
17 |
195 |
1.1e-35 |
PFAM |
|
low complexity region
|
386 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153631
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,451,443 (GRCm39) |
L216F |
probably benign |
Het |
| Fgf7 |
A |
G |
2: 125,931,365 (GRCm39) |
T157A |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,464,744 (GRCm39) |
H438R |
possibly damaging |
Het |
| Kansl1 |
T |
C |
11: 104,315,892 (GRCm39) |
T49A |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,945,171 (GRCm39) |
K693E |
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,300,345 (GRCm39) |
D45E |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Prlr |
T |
C |
15: 10,322,467 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,214,012 (GRCm39) |
K789E |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,482,746 (GRCm39) |
S154R |
probably benign |
Het |
| Setx |
T |
A |
2: 29,038,457 (GRCm39) |
S1647R |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,775,966 (GRCm39) |
E174G |
probably damaging |
Het |
| Taf1 |
A |
G |
X: 100,606,545 (GRCm39) |
E1248G |
probably damaging |
Het |
| Tanc1 |
T |
G |
2: 59,645,735 (GRCm39) |
L929R |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,410,671 (GRCm39) |
I100V |
probably benign |
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 |
|
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 |
|
|
R9413:Atg13
|
UTSW |
2 |
91,511,970 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9627:Atg13
|
UTSW |
2 |
91,509,098 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation