Incidental Mutation 'R4324:Atg10'
| ID |
323976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg10
|
| Ensembl Gene |
ENSMUSG00000021619 |
| Gene Name |
autophagy related 10 |
| Synonyms |
APG10, Apg10l, 5430428K15Rik, 5330424L23Rik, Apg10p |
| MMRRC Submission |
041095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4324 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
91083475-91372087 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91189085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 75
(D75V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022119]
[ENSMUST00000224449]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022119
AA Change: D75V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022119
Gene: ENSMUSG00000021619
AA Change: D75V
| 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 |
noncoding transcript
Transcript: ENSMUST00000223729
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224449
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,086,532 (GRCm39) |
K263* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
| Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
| Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| H2-K2 |
C |
T |
17: 34,219,014 (GRCm39) |
V30M |
possibly damaging |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,450,182 (GRCm39) |
M505L |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
| Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
| Pcgf1 |
T |
C |
6: 83,056,938 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
| Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,520,670 (GRCm39) |
M260L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
| Stac3 |
C |
T |
10: 127,339,118 (GRCm39) |
P76S |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCCCCTCTCAGGAATGA -3'
(R):5'- GTGTGGGTAGCTCTCCCT -3'
Sequencing Primer
(F):5'- CAAATATGCTCCCTGTCTTATATGG -3'
(R):5'- GTGGGTAGCTCTCCCTTTTCTTAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation