Incidental Mutation 'IGL00790:Art4'
| ID |
9070 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Art4
|
| Ensembl Gene |
ENSMUSG00000030217 |
| Gene Name |
ADP-ribosyltransferase 4 |
| Synonyms |
4432404K01Rik, DO, DOK1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00790
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
136825449-136834598 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136831493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 216
(Q216L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032341]
|
| AlphaFold |
Q9CRA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032341
AA Change: Q216L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032341
Gene: ENSMUSG00000030217
AA Change: Q216L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ART
|
34 |
256 |
8.7e-51 |
PFAM |
|
| 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 protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
A |
T |
17: 66,291,175 (GRCm39) |
N1419K |
probably benign |
Het |
| Arhgef18 |
A |
G |
8: 3,479,553 (GRCm39) |
E79G |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,231,348 (GRCm39) |
D407G |
probably benign |
Het |
| Cherp |
A |
G |
8: 73,222,090 (GRCm39) |
I277T |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,342,976 (GRCm39) |
M119T |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,616,759 (GRCm39) |
C73S |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,884,390 (GRCm39) |
S1686P |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,227,953 (GRCm39) |
G468S |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,122,781 (GRCm39) |
D551V |
possibly damaging |
Het |
| Gmip |
T |
A |
8: 70,269,661 (GRCm39) |
Y585* |
probably null |
Het |
| Gnal |
A |
G |
18: 67,267,360 (GRCm39) |
|
probably null |
Het |
| Idh1 |
T |
G |
1: 65,205,281 (GRCm39) |
Q228P |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,938 (GRCm39) |
I2245N |
probably damaging |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,052 (GRCm39) |
M183K |
possibly damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,612 (GRCm39) |
V472D |
possibly damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,806 (GRCm39) |
N787I |
probably damaging |
Het |
| Phf8-ps |
A |
G |
17: 33,286,361 (GRCm39) |
V147A |
probably damaging |
Het |
| Ppp1r10 |
A |
T |
17: 36,235,751 (GRCm39) |
N111I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,640,942 (GRCm39) |
N508D |
probably benign |
Het |
| Rgs17 |
A |
G |
10: 5,862,624 (GRCm38) |
Q25P |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,348,925 (GRCm39) |
|
probably benign |
Het |
| Tab3 |
T |
A |
X: 84,665,210 (GRCm39) |
N591K |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,411,059 (GRCm39) |
|
probably benign |
Het |
| Them5 |
A |
T |
3: 94,250,716 (GRCm39) |
D93V |
probably damaging |
Het |
| Thoc5 |
T |
G |
11: 4,868,147 (GRCm39) |
V275G |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,318,463 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
G |
T |
1: 63,345,673 (GRCm39) |
V1351F |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,312 (GRCm39) |
Y224* |
probably null |
Het |
| Zfp606 |
T |
G |
7: 12,228,159 (GRCm39) |
M702R |
probably damaging |
Het |
|
| Other mutations in Art4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Art4
|
APN |
6 |
136,831,818 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1330:Art4
|
UTSW |
6 |
136,831,339 (GRCm39) |
splice site |
probably benign |
|
|
R4591:Art4
|
UTSW |
6 |
136,831,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Art4
|
UTSW |
6 |
136,834,211 (GRCm39) |
missense |
unknown |
|
|
R6265:Art4
|
UTSW |
6 |
136,831,886 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7176:Art4
|
UTSW |
6 |
136,834,166 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7201:Art4
|
UTSW |
6 |
136,831,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7466:Art4
|
UTSW |
6 |
136,831,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Art4
|
UTSW |
6 |
136,831,739 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7567:Art4
|
UTSW |
6 |
136,831,428 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8519:Art4
|
UTSW |
6 |
136,831,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9095:Art4
|
UTSW |
6 |
136,834,269 (GRCm39) |
start gained |
probably benign |
|
|
R9226:Art4
|
UTSW |
6 |
136,831,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9511:Art4
|
UTSW |
6 |
136,831,613 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Art4
|
UTSW |
6 |
136,826,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation