Incidental Mutation 'IGL01526:Art3'
| ID |
89553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Art3
|
| Ensembl Gene |
ENSMUSG00000034842 |
| Gene Name |
ADP-ribosyltransferase 3 |
| Synonyms |
4930569O04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL01526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92479686-92562487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92562199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 354
(S354P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038514]
[ENSMUST00000113083]
[ENSMUST00000117108]
[ENSMUST00000118106]
[ENSMUST00000119587]
[ENSMUST00000120193]
[ENSMUST00000120416]
[ENSMUST00000121096]
[ENSMUST00000152041]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038514
|
| SMART Domains |
Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
109 |
N/A |
INTRINSIC |
|
Pfam:Nup54
|
303 |
441 |
4.8e-49 |
PFAM |
|
PDB:3T98|C
|
445 |
494 |
2e-26 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113083
AA Change: S354P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842
AA Change: S354P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
4.4e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117108
AA Change: S376P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842
AA Change: S376P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
1.9e-65 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000118106
|
| SMART Domains |
Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
9e-66 |
PFAM |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119587
AA Change: S343P
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842
AA Change: S343P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
4e-65 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000120193
|
| SMART Domains |
Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
8.4e-66 |
PFAM |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000120416
AA Change: F399S
|
| SMART Domains |
Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
AA Change: F399S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
3.1e-65 |
PFAM |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121096
AA Change: S366P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842
AA Change: S366P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
1.8e-65 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138003
AA Change: S134P
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126281
AA Change: S302P
|
| SMART Domains |
Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842
AA Change: S302P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ART
|
1 |
190 |
3e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152041
|
| 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 an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
| 4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
| Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
| Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
| Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
| S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
| Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
| Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
| Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
Het |
|
| Other mutations in Art3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Art3
|
APN |
5 |
92,551,473 (GRCm39) |
nonsense |
probably null |
|
|
R0011:Art3
|
UTSW |
5 |
92,551,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0011:Art3
|
UTSW |
5 |
92,551,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1861:Art3
|
UTSW |
5 |
92,560,094 (GRCm39) |
intron |
probably benign |
|
|
R4131:Art3
|
UTSW |
5 |
92,540,421 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4726:Art3
|
UTSW |
5 |
92,559,002 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4810:Art3
|
UTSW |
5 |
92,562,108 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4959:Art3
|
UTSW |
5 |
92,551,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Art3
|
UTSW |
5 |
92,551,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5592:Art3
|
UTSW |
5 |
92,540,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5678:Art3
|
UTSW |
5 |
92,540,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5813:Art3
|
UTSW |
5 |
92,560,100 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5924:Art3
|
UTSW |
5 |
92,560,091 (GRCm39) |
intron |
probably benign |
|
|
R6480:Art3
|
UTSW |
5 |
92,540,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Art3
|
UTSW |
5 |
92,540,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Art3
|
UTSW |
5 |
92,551,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7772:Art3
|
UTSW |
5 |
92,551,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7947:Art3
|
UTSW |
5 |
92,540,359 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9022:Art3
|
UTSW |
5 |
92,540,393 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9412:Art3
|
UTSW |
5 |
92,541,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Art3
|
UTSW |
5 |
92,562,120 (GRCm39) |
missense |
unknown |
|
|
R9766:Art3
|
UTSW |
5 |
92,562,138 (GRCm39) |
missense |
unknown |
|
|
Z1177:Art3
|
UTSW |
5 |
92,560,065 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation