Incidental Mutation 'IGL00551:Art2b'
| ID |
5196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Art2b
|
| Ensembl Gene |
ENSMUSG00000030651 |
| Gene Name |
ADP-ribosyltransferase 2b |
| Synonyms |
ART2.2, Rt6-2, Rt-6, Rt6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL00551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101226177-101234807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101229776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 41
(C41Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063920]
[ENSMUST00000209526]
|
| AlphaFold |
O35975 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063920
AA Change: C41Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065658
Gene: ENSMUSG00000030651
AA Change: C41Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ART
|
27 |
242 |
3.2e-87 |
PFAM |
|
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209526
AA Change: C41Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btk |
A |
G |
X: 133,474,683 (GRCm39) |
Y42H |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,279,429 (GRCm39) |
D1720G |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,625 (GRCm39) |
I76T |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,237,455 (GRCm39) |
V1913A |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,358,122 (GRCm39) |
Y526H |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,882,452 (GRCm39) |
K675* |
probably null |
Het |
| Eif2b1 |
A |
G |
5: 124,714,932 (GRCm39) |
F115L |
probably damaging |
Het |
| Erlin1 |
T |
C |
19: 44,047,585 (GRCm39) |
D112G |
probably damaging |
Het |
| Fabp12 |
A |
G |
3: 10,311,115 (GRCm39) |
|
probably benign |
Het |
| Fam47c |
A |
G |
X: 77,782,060 (GRCm39) |
E214G |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,620,020 (GRCm39) |
|
probably benign |
Het |
| H1f2 |
C |
A |
13: 23,922,828 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
G |
T |
12: 25,088,559 (GRCm39) |
|
probably benign |
Het |
| Limd2 |
T |
C |
11: 106,050,031 (GRCm39) |
E15G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,750,295 (GRCm39) |
C696S |
possibly damaging |
Het |
| Naa16 |
A |
G |
14: 79,593,169 (GRCm39) |
F468L |
probably damaging |
Het |
| Ndufaf1 |
A |
G |
2: 119,490,950 (GRCm39) |
S37P |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,790 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,819 (GRCm39) |
T228A |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,453,352 (GRCm39) |
F265L |
probably benign |
Het |
| Selenos |
A |
G |
7: 65,736,942 (GRCm39) |
E137G |
probably benign |
Het |
| Tars1 |
T |
C |
15: 11,388,307 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
G |
5: 120,698,390 (GRCm39) |
I44T |
probably benign |
Het |
| Usp26 |
A |
G |
X: 50,846,182 (GRCm39) |
V31A |
probably benign |
Het |
|
| Other mutations in Art2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03085:Art2b
|
APN |
7 |
101,229,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Art2b
|
UTSW |
7 |
101,229,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Art2b
|
UTSW |
7 |
101,229,236 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1896:Art2b
|
UTSW |
7 |
101,229,236 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1941:Art2b
|
UTSW |
7 |
101,229,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Art2b
|
UTSW |
7 |
101,229,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1967:Art2b
|
UTSW |
7 |
101,229,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Art2b
|
UTSW |
7 |
101,229,194 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3605:Art2b
|
UTSW |
7 |
101,229,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4424:Art2b
|
UTSW |
7 |
101,229,129 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4960:Art2b
|
UTSW |
7 |
101,229,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5658:Art2b
|
UTSW |
7 |
101,229,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6024:Art2b
|
UTSW |
7 |
101,229,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6223:Art2b
|
UTSW |
7 |
101,229,158 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6980:Art2b
|
UTSW |
7 |
101,229,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7184:Art2b
|
UTSW |
7 |
101,229,658 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8954:Art2b
|
UTSW |
7 |
101,229,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8991:Art2b
|
UTSW |
7 |
101,229,590 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Art2b
|
UTSW |
7 |
101,228,089 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation