Incidental Mutation 'R8287:Atg10'
| ID |
656494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg10
|
| Ensembl Gene |
ENSMUSG00000021619 |
| Gene Name |
autophagy related 10 |
| Synonyms |
APG10, Apg10l, 5430428K15Rik, 5330424L23Rik, Apg10p |
| MMRRC Submission |
067709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
91083475-91372087 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 91170799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022119]
|
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,220,852 (GRCm39) |
|
probably null |
Het |
| Apcs |
T |
G |
1: 172,721,814 (GRCm39) |
L177F |
possibly damaging |
Het |
| Arsa |
G |
T |
15: 89,357,593 (GRCm39) |
H457N |
probably benign |
Het |
| Blnk |
T |
C |
19: 40,917,735 (GRCm39) |
Y419C |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,225 (GRCm39) |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,585,775 (GRCm39) |
S1133P |
probably damaging |
Het |
| Cops2 |
T |
A |
2: 125,701,037 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,899 (GRCm39) |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,214,453 (GRCm39) |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,534,560 (GRCm39) |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,866,157 (GRCm39) |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,107,825 (GRCm39) |
Y852H |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,739,653 (GRCm39) |
Y83F |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,226 (GRCm39) |
A33T |
possibly damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,625,068 (GRCm39) |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,265 (GRCm39) |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,430 (GRCm39) |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,323,883 (GRCm39) |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,201,258 (GRCm39) |
V214A |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,633 (GRCm39) |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,398,880 (GRCm39) |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,660,129 (GRCm39) |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,588 (GRCm39) |
N555S |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zscan18 |
T |
G |
7: 12,509,298 (GRCm39) |
K67N |
unknown |
Het |
|
| Other mutations in Atg10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Atg10
|
APN |
13 |
91,302,330 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCTAAGGATGTGCAGAACTG -3'
(R):5'- TGGACCTTCCCTTAGGCTTG -3'
Sequencing Primer
(F):5'- TCTAAGGATGTGCAGAACTGAAACAG -3'
(R):5'- GGACCTTCCCTTAGGCTTGTATCTG -3'
|
| Posted On |
2020-12-02 |
Incidental Mutation