Incidental Mutation 'R3004:Art2a'
| ID |
477368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Art2a
|
| Ensembl Gene |
ENSMUSG00000092517 |
| Gene Name |
ADP-ribosyltransferase 2a |
| Synonyms |
Art2a-ps, Rt6, Rt6-1, Rt-6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
101201660-101210072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101203972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 189
(I189V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173420]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173420
AA Change: I189V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134404
Gene: ENSMUSG00000092517
AA Change: I189V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ART
|
27 |
241 |
1.2e-89 |
PFAM |
|
low complexity region
|
266 |
286 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
G |
A |
7: 80,753,103 (GRCm39) |
W1553* |
probably null |
Het |
| BC049715 |
A |
G |
6: 136,816,790 (GRCm39) |
E10G |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,796,929 (GRCm39) |
L469P |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,688 (GRCm39) |
F131S |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,682 (GRCm39) |
I59V |
possibly damaging |
Het |
| Daam2 |
A |
G |
17: 49,767,682 (GRCm39) |
F970L |
probably damaging |
Het |
| Gm21903 |
A |
T |
17: 39,353,547 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| H2bc7 |
G |
A |
13: 23,758,355 (GRCm39) |
|
probably benign |
Het |
| Hoxd10 |
T |
A |
2: 74,522,706 (GRCm39) |
V128D |
probably benign |
Het |
| Ighv5-9 |
T |
C |
12: 113,625,567 (GRCm39) |
T59A |
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,068,524 (GRCm39) |
V142M |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,330,311 (GRCm39) |
F947L |
probably benign |
Het |
| Or1ak2 |
T |
A |
2: 36,827,221 (GRCm39) |
I30N |
possibly damaging |
Het |
| Or56b1b |
G |
T |
7: 108,164,151 (GRCm39) |
H284N |
probably benign |
Het |
| Piezo2 |
G |
T |
18: 63,157,506 (GRCm39) |
Y223* |
probably null |
Het |
| Rhog |
A |
T |
7: 101,889,345 (GRCm39) |
V36E |
probably damaging |
Het |
| Sbno1 |
G |
A |
5: 124,519,771 (GRCm39) |
T1168I |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,004,118 (GRCm39) |
L290* |
probably null |
Het |
| Slco1c1 |
G |
T |
6: 141,478,380 (GRCm39) |
A48S |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,590 (GRCm39) |
S715R |
possibly damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,840 (GRCm39) |
E120G |
probably damaging |
Het |
|
| Other mutations in Art2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Art2a
|
APN |
7 |
101,204,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01754:Art2a
|
APN |
7 |
101,204,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Art2a
|
UTSW |
7 |
101,203,956 (GRCm39) |
nonsense |
probably null |
|
|
R4586:Art2a
|
UTSW |
7 |
101,203,956 (GRCm39) |
nonsense |
probably null |
|
|
R6063:Art2a
|
UTSW |
7 |
101,204,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Art2a
|
UTSW |
7 |
101,204,430 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6241:Art2a
|
UTSW |
7 |
101,204,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6757:Art2a
|
UTSW |
7 |
101,204,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7693:Art2a
|
UTSW |
7 |
101,204,056 (GRCm39) |
makesense |
probably null |
|
|
R7889:Art2a
|
UTSW |
7 |
101,204,418 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation