Incidental Mutation 'R5235:Atg3'
| ID |
398330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg3
|
| Ensembl Gene |
ENSMUSG00000022663 |
| Gene Name |
autophagy related 3 |
| Synonyms |
2610016C12Rik, Apg3l, PC3-96, APG3 |
| MMRRC Submission |
042807-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44979192-45008901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44979520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 20
(T20A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023343]
[ENSMUST00000023344]
[ENSMUST00000114600]
[ENSMUST00000180636]
[ENSMUST00000181177]
[ENSMUST00000181750]
|
| AlphaFold |
Q9CPX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023343
AA Change: T20A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000023343
Gene: ENSMUSG00000022663
AA Change: T20A
| 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 |
probably benign
Transcript: ENSMUST00000023344
|
| SMART Domains |
Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_sug_transp
|
28 |
387 |
1.3e-54 |
PFAM |
|
low complexity region
|
424 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114600
|
| SMART Domains |
Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:Nuc_sug_transp
|
107 |
155 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180636
|
| SMART Domains |
Protein: ENSMUSP00000137821
Gene: ENSMUSG00000022664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
30 |
196 |
5.2e-8 |
PFAM |
|
Pfam:TPT
|
31 |
177 |
3.3e-7 |
PFAM |
|
Pfam:EamA
|
73 |
179 |
1.2e-7 |
PFAM |
|
Pfam:Nuc_sug_transp
|
91 |
222 |
7.5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181177
|
| SMART Domains |
Protein: ENSMUSP00000137789
Gene: ENSMUSG00000022664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nuc_sug_transp
|
30 |
94 |
1.1e-12 |
PFAM |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181750
|
| SMART Domains |
Protein: ENSMUSP00000137937
Gene: ENSMUSG00000022664
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
36 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
A |
7: 41,274,256 (GRCm39) |
H126Q |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aga |
A |
G |
8: 53,967,361 (GRCm39) |
H124R |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,572,212 (GRCm39) |
G49R |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,096,714 (GRCm39) |
V270L |
possibly damaging |
Het |
| Arfrp1 |
T |
C |
2: 181,001,298 (GRCm39) |
H145R |
probably benign |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| C3ar1 |
A |
G |
6: 122,827,881 (GRCm39) |
L112P |
probably damaging |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,674 (GRCm39) |
T3156A |
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,084,897 (GRCm39) |
Y748C |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,239,955 (GRCm39) |
|
probably null |
Het |
| Fras1 |
G |
A |
5: 96,748,609 (GRCm39) |
V695M |
probably benign |
Het |
| Gpx7 |
A |
G |
4: 108,258,189 (GRCm39) |
S135P |
probably damaging |
Het |
| Ido2 |
A |
T |
8: 25,037,202 (GRCm39) |
I168N |
probably damaging |
Het |
| Lca5 |
A |
T |
9: 83,305,107 (GRCm39) |
L233* |
probably null |
Het |
| Liph |
A |
C |
16: 21,802,785 (GRCm39) |
L95V |
probably damaging |
Het |
| Mast1 |
A |
T |
8: 85,640,068 (GRCm39) |
L1113Q |
probably damaging |
Het |
| Nlrx1 |
C |
T |
9: 44,175,047 (GRCm39) |
G243D |
probably damaging |
Het |
| Or4ac1-ps1 |
G |
A |
2: 88,370,769 (GRCm39) |
|
noncoding transcript |
Het |
| Or5d40 |
T |
A |
2: 88,015,912 (GRCm39) |
D230E |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,755,693 (GRCm39) |
L1033P |
probably damaging |
Het |
| Ovol3 |
A |
T |
7: 29,932,899 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,619 (GRCm39) |
N215S |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,488 (GRCm39) |
Y515H |
probably damaging |
Het |
| Phlda1 |
CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC |
CCAGCCCCAACCTCAGCCCCAACC |
10: 111,343,252 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,582,355 (GRCm39) |
N1568Y |
probably damaging |
Het |
| Sec16b |
A |
T |
1: 157,362,334 (GRCm39) |
I251F |
probably benign |
Het |
| Slc29a4 |
T |
A |
5: 142,704,523 (GRCm39) |
I355N |
probably damaging |
Het |
| Snx29 |
G |
T |
16: 11,231,110 (GRCm39) |
C39F |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,781 (GRCm39) |
M101V |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,126,901 (GRCm39) |
|
probably null |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,393 (GRCm39) |
D137G |
probably damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,993,802 (GRCm39) |
E97G |
probably damaging |
Het |
| Ugt8a |
A |
C |
3: 125,661,129 (GRCm39) |
H454Q |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,013 (GRCm39) |
I706L |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,994,972 (GRCm39) |
I3256V |
probably null |
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 |
|
|
IGL01298:Atg3
|
APN |
16 |
44,992,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACGTGAGGCCTTAGGTG -3'
(R):5'- TTCACTCTAGTGGAAGCGGG -3'
Sequencing Primer
(F):5'- TTCAGTGGAGCTCCGGG -3'
(R):5'- GGAAGCCAGCAAGCCTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation