Incidental Mutation 'IGL01298:Atg3'
| ID |
73214 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atg3
|
| Ensembl Gene |
ENSMUSG00000022663 |
| Gene Name |
autophagy related 3 |
| Synonyms |
2610016C12Rik, Apg3l, PC3-96, APG3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44979192-45008901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44992036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 88
(M88T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023343]
|
| AlphaFold |
Q9CPX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023343
AA Change: M88T
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: M88T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Autophagy_N
|
8 |
153 |
1.4e-55 |
PFAM |
|
Pfam:Autophagy_act_C
|
204 |
265 |
8.8e-23 |
PFAM |
|
Pfam:Autophagy_C
|
286 |
310 |
2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150390
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in T cells exhibit decreased autophagy, decreased T cell proliferation, and increased T cell apoptosis. Mice homozygous for a knock-out allele exhibit decreased birth weight, neonatal lethality and abnormal autophagy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
G |
T |
10: 75,169,326 (GRCm39) |
W263C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,652,040 (GRCm39) |
H424Y |
possibly damaging |
Het |
| Angpt2 |
T |
G |
8: 18,760,544 (GRCm39) |
N186T |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,753,369 (GRCm39) |
V304A |
possibly damaging |
Het |
| Baz1a |
G |
T |
12: 55,001,594 (GRCm39) |
P142Q |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,444,055 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,537,734 (GRCm39) |
Y70H |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cyp7a1 |
A |
T |
4: 6,275,517 (GRCm39) |
W19R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,738,920 (GRCm39) |
D58Y |
unknown |
Het |
| Gm7168 |
A |
T |
17: 14,170,120 (GRCm39) |
T496S |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,636,600 (GRCm39) |
S428G |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,757 (GRCm39) |
E309G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,753,023 (GRCm39) |
L1021P |
possibly damaging |
Het |
| Krtap14 |
A |
T |
16: 88,622,615 (GRCm39) |
H121Q |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,388,959 (GRCm39) |
V170A |
probably benign |
Het |
| Or1j10 |
T |
A |
2: 36,267,460 (GRCm39) |
M224K |
probably benign |
Het |
| Or6c3b |
T |
C |
10: 129,527,898 (GRCm39) |
Y4C |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,990,020 (GRCm39) |
T7I |
possibly damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,037 (GRCm39) |
M96T |
possibly damaging |
Het |
| Pramel5 |
A |
G |
4: 143,997,732 (GRCm39) |
|
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,605 (GRCm39) |
N354S |
probably benign |
Het |
| Prss40 |
T |
G |
1: 34,599,847 (GRCm39) |
I47L |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,484,538 (GRCm39) |
R541G |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,023,508 (GRCm39) |
V788A |
possibly damaging |
Het |
| Trbv19 |
T |
C |
6: 41,155,838 (GRCm39) |
Y70H |
probably damaging |
Het |
| Ttk |
C |
T |
9: 83,747,195 (GRCm39) |
S678L |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
|
| Other mutations in Atg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Atg3
|
APN |
16 |
45,004,174 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02285:Atg3
|
APN |
16 |
44,998,680 (GRCm39) |
splice site |
probably benign |
|
|
IGL02626:Atg3
|
APN |
16 |
45,004,048 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1494:Atg3
|
UTSW |
16 |
44,992,123 (GRCm39) |
splice site |
probably benign |
|
|
R3625:Atg3
|
UTSW |
16 |
44,995,624 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3743:Atg3
|
UTSW |
16 |
44,998,591 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5047:Atg3
|
UTSW |
16 |
44,998,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5235:Atg3
|
UTSW |
16 |
44,979,520 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6696:Atg3
|
UTSW |
16 |
44,995,644 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7276:Atg3
|
UTSW |
16 |
44,982,805 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8072:Atg3
|
UTSW |
16 |
45,008,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Atg3
|
UTSW |
16 |
45,003,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Atg3
|
UTSW |
16 |
45,006,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9297:Atg3
|
UTSW |
16 |
44,987,371 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9482:Atg3
|
UTSW |
16 |
44,979,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation