Incidental Mutation 'IGL00519:Atg10'
ID |
9106 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atg10
|
Ensembl Gene |
ENSMUSG00000021619 |
Gene Name |
autophagy related 10 |
Synonyms |
APG10, Apg10l, 5430428K15Rik, 5330424L23Rik, Apg10p |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL00519
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
91083475-91372087 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 91302330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022119]
[ENSMUST00000224449]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022119
|
SMART Domains |
Protein: ENSMUSP00000022119 Gene: ENSMUSG00000021619
Domain | Start | End | E-Value | Type |
Pfam:Autophagy_act_C
|
95 |
162 |
9.1e-19 |
PFAM |
low complexity region
|
188 |
202 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224449
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,022,562 (GRCm39) |
N309K |
probably damaging |
Het |
Asap1 |
G |
A |
15: 63,982,791 (GRCm39) |
P846S |
probably damaging |
Het |
Cdk18 |
C |
A |
1: 132,043,226 (GRCm39) |
R433L |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,915,037 (GRCm39) |
Y979H |
probably damaging |
Het |
Cracr2b |
T |
C |
7: 141,045,670 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,377,266 (GRCm39) |
F2049L |
probably benign |
Het |
Cubn |
T |
C |
2: 13,287,730 (GRCm39) |
N3450D |
probably benign |
Het |
Dmrt1 |
T |
C |
19: 25,580,638 (GRCm39) |
L350P |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,444,364 (GRCm39) |
D4054V |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,985,290 (GRCm39) |
T783S |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,663,670 (GRCm39) |
T564A |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,966,435 (GRCm39) |
K180E |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,697,578 (GRCm39) |
F301L |
probably benign |
Het |
Fbxo7 |
A |
T |
10: 85,864,928 (GRCm39) |
E77V |
probably damaging |
Het |
Gabpa |
T |
G |
16: 84,657,489 (GRCm39) |
*455G |
probably null |
Het |
Hexim2 |
A |
T |
11: 103,024,905 (GRCm39) |
M1L |
probably benign |
Het |
Lrrc24 |
T |
A |
15: 76,602,263 (GRCm39) |
N164I |
probably damaging |
Het |
Lrrc8b |
G |
A |
5: 105,629,591 (GRCm39) |
A646T |
possibly damaging |
Het |
Mansc1 |
T |
A |
6: 134,587,769 (GRCm39) |
Q136L |
possibly damaging |
Het |
Mlxip |
T |
A |
5: 123,585,268 (GRCm39) |
V592E |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,161,988 (GRCm39) |
T429A |
unknown |
Het |
Tbcd |
A |
G |
11: 121,466,147 (GRCm39) |
N591S |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,454,345 (GRCm39) |
|
probably benign |
Het |
Uri1 |
A |
G |
7: 37,660,978 (GRCm39) |
S522P |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,176,865 (GRCm39) |
S1343L |
probably benign |
Het |
|
Other mutations in Atg10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03131:Atg10
|
APN |
13 |
91,085,412 (GRCm39) |
missense |
probably null |
0.99 |
R0362:Atg10
|
UTSW |
13 |
91,189,109 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0826:Atg10
|
UTSW |
13 |
91,084,705 (GRCm39) |
critical splice donor site |
probably null |
|
R1593:Atg10
|
UTSW |
13 |
91,302,380 (GRCm39) |
missense |
probably benign |
0.02 |
R2918:Atg10
|
UTSW |
13 |
91,189,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R3012:Atg10
|
UTSW |
13 |
91,302,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R3036:Atg10
|
UTSW |
13 |
91,189,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R3837:Atg10
|
UTSW |
13 |
91,085,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R3838:Atg10
|
UTSW |
13 |
91,085,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R3839:Atg10
|
UTSW |
13 |
91,085,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Atg10
|
UTSW |
13 |
91,189,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R6195:Atg10
|
UTSW |
13 |
91,356,555 (GRCm39) |
splice site |
probably null |
|
R6478:Atg10
|
UTSW |
13 |
91,085,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R8287:Atg10
|
UTSW |
13 |
91,170,799 (GRCm39) |
splice site |
probably benign |
|
R9036:Atg10
|
UTSW |
13 |
91,189,071 (GRCm39) |
missense |
probably benign |
0.07 |
R9151:Atg10
|
UTSW |
13 |
91,189,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |