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 |