Incidental Mutation 'IGL03213:Atg13'
ID |
413384 |
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 # |
IGL03213
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91504963-91540921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 91515512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 227
(H227Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028678]
[ENSMUST00000076803]
|
AlphaFold |
Q91YI1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028678
AA Change: H227Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028678 Gene: ENSMUSG00000027244 AA Change: H227Y
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 damaging
Transcript: ENSMUST00000076803
AA Change: H227Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000076081 Gene: ENSMUSG00000027244 AA Change: H227Y
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
A |
T |
2: 22,831,971 (GRCm39) |
D447E |
probably damaging |
Het |
Aldh8a1 |
T |
C |
10: 21,260,616 (GRCm39) |
V175A |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,965,279 (GRCm39) |
D429G |
possibly damaging |
Het |
Arap2 |
T |
A |
5: 62,906,438 (GRCm39) |
T194S |
probably benign |
Het |
Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
Arl5b |
T |
A |
2: 15,074,676 (GRCm39) |
N52K |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,253,748 (GRCm39) |
T164A |
possibly damaging |
Het |
Cep192 |
T |
C |
18: 67,998,708 (GRCm39) |
V2074A |
probably damaging |
Het |
Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
Chrm3 |
G |
A |
13: 9,928,220 (GRCm39) |
T272I |
probably benign |
Het |
Cln8 |
A |
G |
8: 14,944,845 (GRCm39) |
Y53C |
probably damaging |
Het |
Cwc27 |
T |
A |
13: 104,932,911 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
A |
T |
5: 137,892,529 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
G |
T |
7: 105,404,279 (GRCm39) |
N2754K |
probably damaging |
Het |
Dclk1 |
A |
T |
3: 55,387,805 (GRCm39) |
K84* |
probably null |
Het |
Ednra |
T |
C |
8: 78,446,848 (GRCm39) |
T77A |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,410,510 (GRCm39) |
N553D |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gm10784 |
T |
A |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2e2 |
T |
C |
8: 34,242,525 (GRCm39) |
F76L |
probably damaging |
Het |
Hnrnpll |
A |
T |
17: 80,341,527 (GRCm39) |
V504E |
probably damaging |
Het |
Ifitm2 |
A |
G |
7: 140,535,677 (GRCm39) |
V51A |
possibly damaging |
Het |
Il16 |
C |
T |
7: 83,295,708 (GRCm39) |
E456K |
probably damaging |
Het |
Lmod2 |
A |
T |
6: 24,603,615 (GRCm39) |
I197F |
possibly damaging |
Het |
Lrrc14 |
T |
C |
15: 76,597,983 (GRCm39) |
S238P |
possibly damaging |
Het |
Map3k1 |
A |
G |
13: 111,885,426 (GRCm39) |
|
probably benign |
Het |
Phf11d |
C |
A |
14: 59,586,797 (GRCm39) |
R210S |
probably benign |
Het |
Pigu |
T |
C |
2: 155,177,291 (GRCm39) |
N103S |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,701,587 (GRCm39) |
V289A |
probably benign |
Het |
Rp1l1 |
T |
A |
14: 64,265,864 (GRCm39) |
S483R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,739,273 (GRCm39) |
|
probably benign |
Het |
Sema3c |
T |
G |
5: 17,899,637 (GRCm39) |
|
probably benign |
Het |
Septin4 |
G |
T |
11: 87,458,184 (GRCm39) |
|
probably null |
Het |
Sfmbt2 |
A |
G |
2: 10,409,385 (GRCm39) |
Y110C |
probably damaging |
Het |
Slc12a3 |
T |
C |
8: 95,061,933 (GRCm39) |
V328A |
possibly damaging |
Het |
Smarca2 |
G |
A |
19: 26,601,375 (GRCm39) |
G31D |
probably damaging |
Het |
Spmip1 |
G |
A |
6: 29,471,792 (GRCm39) |
M89I |
probably damaging |
Het |
Tenm2 |
T |
G |
11: 35,914,157 (GRCm39) |
E2460A |
probably benign |
Het |
Trim58 |
T |
A |
11: 58,541,993 (GRCm39) |
W318R |
probably benign |
Het |
Ube3a |
C |
T |
7: 58,935,870 (GRCm39) |
Q585* |
probably null |
Het |
Vmn2r17 |
T |
C |
5: 109,582,256 (GRCm39) |
|
probably null |
Het |
Zfp647 |
A |
G |
15: 76,796,177 (GRCm39) |
V161A |
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 |
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 |
2016-08-02 |