Incidental Mutation 'R0011:Art3'
| ID |
63211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Art3
|
| Ensembl Gene |
ENSMUSG00000034842 |
| Gene Name |
ADP-ribosyltransferase 3 |
| Synonyms |
4930569O04Rik |
| MMRRC Submission |
038306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0011 (G1)
|
| Quality Score |
112 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92479686-92562487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92551471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 17
(Y17N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113083]
[ENSMUST00000117108]
[ENSMUST00000118106]
[ENSMUST00000119587]
[ENSMUST00000120193]
[ENSMUST00000120416]
[ENSMUST00000121096]
[ENSMUST00000152041]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113083
AA Change: Y277N
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842
AA Change: Y277N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
4.4e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117108
AA Change: Y277N
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842
AA Change: Y277N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
1.9e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118106
AA Change: Y277N
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842
AA Change: Y277N
| 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 |
probably benign
Transcript: ENSMUST00000119587
|
| SMART Domains |
Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
4e-65 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120193
AA Change: Y277N
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842
AA Change: Y277N
| 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 |
probably benign
Transcript: ENSMUST00000120416
AA Change: Y277N
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
AA Change: Y277N
| 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 benign
Transcript: ENSMUST00000121096
AA Change: Y277N
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842
AA Change: Y277N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
1.8e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152041
AA Change: Y17N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126281
AA Change: Y215N
|
| SMART Domains |
Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842
AA Change: Y215N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ART
|
1 |
190 |
3e-53 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138003
AA Change: Y57N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129222
|
| Meta Mutation Damage Score |
0.3359 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
100% (59/59) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,422 (GRCm39) |
V253A |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
| Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,244,655 (GRCm39) |
|
probably benign |
Het |
| Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,320,718 (GRCm39) |
I698T |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,382,903 (GRCm39) |
S2664P |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
| Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
| Cyb5a |
T |
A |
18: 84,895,947 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
A |
T |
14: 87,103,844 (GRCm39) |
C847S |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,618,924 (GRCm39) |
K1648R |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
| Emilin2 |
C |
T |
17: 71,580,863 (GRCm39) |
G621E |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,545,900 (GRCm39) |
K228* |
probably null |
Het |
| Epg5 |
T |
C |
18: 77,991,698 (GRCm39) |
C132R |
probably benign |
Het |
| Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
| G6pc2 |
C |
A |
2: 69,056,909 (GRCm39) |
|
probably benign |
Het |
| Gm7361 |
C |
T |
5: 26,463,876 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
| Hnrnpul1 |
T |
G |
7: 25,442,340 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
| Insrr |
T |
C |
3: 87,716,923 (GRCm39) |
C688R |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,861 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
| Klk1 |
C |
T |
7: 43,878,959 (GRCm39) |
T149I |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,395,863 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Mtr |
T |
C |
13: 12,252,938 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,630,923 (GRCm39) |
N133K |
probably benign |
Het |
| Pik3r4 |
C |
A |
9: 105,521,836 (GRCm39) |
T134K |
probably benign |
Het |
| Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
| Sema3e |
C |
T |
5: 14,194,025 (GRCm39) |
R85* |
probably null |
Het |
| Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
| Slc39a11 |
A |
T |
11: 113,138,659 (GRCm39) |
F279L |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,247,936 (GRCm39) |
K353E |
possibly damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,813,738 (GRCm39) |
M515K |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,254,825 (GRCm39) |
I1225T |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,784,467 (GRCm39) |
W534R |
probably benign |
Het |
| Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
| Tnfrsf1b |
T |
G |
4: 144,949,536 (GRCm39) |
R297S |
possibly damaging |
Het |
| Trim55 |
A |
G |
3: 19,725,163 (GRCm39) |
T227A |
probably benign |
Het |
| Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
| Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
| Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
| Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
probably benign |
Het |
|
| Other mutations in Art3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01526:Art3
|
APN |
5 |
92,562,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01674:Art3
|
APN |
5 |
92,551,473 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCTCAGCGTTATCGAGTATGTC -3'
(R):5'- TTCACTGCTTAGAGGGCCACAGAG -3'
Sequencing Primer
(F):5'- AAAGTCTATATTGCCTTGTCCTTG -3'
(R):5'- GGCCACAGAGCAAATGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation