Incidental Mutation 'IGL01754:Art2a'
| ID |
153426 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Art2a
|
| Ensembl Gene |
ENSMUSG00000092517 |
| Gene Name |
ADP-ribosyltransferase 2a |
| Synonyms |
Art2a-ps, Rt6, Rt6-1, Rt-6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL01754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101201660-101210072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101204059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 160
(V160M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173420]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173420
AA Change: V160M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134404
Gene: ENSMUSG00000092517
AA Change: V160M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ART
|
27 |
241 |
1.2e-89 |
PFAM |
|
low complexity region
|
266 |
286 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
A |
G |
8: 112,708,942 (GRCm39) |
C294R |
probably damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,870,565 (GRCm39) |
|
probably null |
Het |
| Atp8b3 |
T |
C |
10: 80,366,795 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,754,883 (GRCm39) |
I231T |
probably damaging |
Het |
| Efr3a |
C |
A |
15: 65,726,569 (GRCm39) |
A554E |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,348,899 (GRCm39) |
Q71R |
probably damaging |
Het |
| Fam3b |
T |
C |
16: 97,277,607 (GRCm39) |
T76A |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm4454 |
T |
C |
7: 38,268,386 (GRCm39) |
T253A |
probably damaging |
Het |
| Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
| Igkv5-39 |
A |
G |
6: 69,877,661 (GRCm39) |
S12P |
probably damaging |
Het |
| Itga10 |
G |
A |
3: 96,564,091 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,898,364 (GRCm39) |
D407V |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,901,432 (GRCm39) |
D579G |
probably damaging |
Het |
| Plcg1 |
C |
A |
2: 160,603,353 (GRCm39) |
Q1175K |
probably damaging |
Het |
| Scml4 |
T |
A |
10: 42,833,746 (GRCm39) |
|
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,906,449 (GRCm39) |
L390P |
probably damaging |
Het |
| Tectb |
A |
G |
19: 55,172,445 (GRCm39) |
Q164R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,623 (GRCm39) |
Q94* |
probably null |
Het |
| Usp17ld |
A |
C |
7: 102,899,870 (GRCm39) |
V354G |
probably benign |
Het |
| Usp43 |
T |
C |
11: 67,747,007 (GRCm39) |
H895R |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,781,120 (GRCm39) |
L442P |
probably damaging |
Het |
|
| Other mutations in Art2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Art2a
|
APN |
7 |
101,204,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3004:Art2a
|
UTSW |
7 |
101,203,972 (GRCm39) |
missense |
probably benign |
|
|
R4585:Art2a
|
UTSW |
7 |
101,203,956 (GRCm39) |
nonsense |
probably null |
|
|
R4586:Art2a
|
UTSW |
7 |
101,203,956 (GRCm39) |
nonsense |
probably null |
|
|
R6063:Art2a
|
UTSW |
7 |
101,204,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Art2a
|
UTSW |
7 |
101,204,430 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6241:Art2a
|
UTSW |
7 |
101,204,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6757:Art2a
|
UTSW |
7 |
101,204,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7693:Art2a
|
UTSW |
7 |
101,204,056 (GRCm39) |
makesense |
probably null |
|
|
R7889:Art2a
|
UTSW |
7 |
101,204,418 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation