Incidental Mutation 'R3012:Atg10'
| ID |
257545 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
91083475-91372087 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91302397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 47
(F47Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153331
(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: F47Y
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022119
Gene: ENSMUSG00000021619
AA Change: F47Y
| 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 damaging
Transcript: ENSMUST00000224449
AA Change: F47Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
G |
T |
19: 40,546,135 (GRCm39) |
Y585* |
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,378,727 (GRCm39) |
P2563S |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,668,579 (GRCm39) |
D535G |
probably damaging |
Het |
| Dennd11 |
T |
C |
6: 40,412,926 (GRCm39) |
E45G |
probably benign |
Het |
| Dgat1 |
T |
A |
15: 76,387,593 (GRCm39) |
Q308H |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,377,318 (GRCm39) |
I1701T |
possibly damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Fes |
G |
C |
7: 80,036,915 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gria1 |
G |
A |
11: 57,180,260 (GRCm39) |
V737M |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,453,319 (GRCm39) |
H84R |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,136 (GRCm39) |
|
probably null |
Het |
| Il15 |
T |
A |
8: 83,071,049 (GRCm39) |
N22I |
probably damaging |
Het |
| Me1 |
A |
G |
9: 86,493,965 (GRCm39) |
S323P |
probably benign |
Het |
| Or10a5 |
T |
C |
7: 106,635,569 (GRCm39) |
F69S |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,832,873 (GRCm39) |
|
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,691 (GRCm39) |
T233A |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,200 (GRCm39) |
V128F |
possibly damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,050,011 (GRCm39) |
V509A |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,542,525 (GRCm39) |
T1428S |
probably benign |
Het |
| Ttc27 |
A |
T |
17: 75,147,454 (GRCm39) |
I669F |
probably benign |
Het |
| Tubb3 |
T |
G |
8: 124,147,975 (GRCm39) |
C303G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,168,187 (GRCm39) |
V188L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,166,249 (GRCm39) |
Y840H |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGCTCACATACCTACTGCC -3'
(R):5'- TACACAGTGTACATTGGGTTAGTCTG -3'
Sequencing Primer
(F):5'- TGCCAACAGTGCCAGGATC -3'
(R):5'- GGTTAGTCTGGTCATCCATAGTATC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation