Incidental Mutation 'R6757:Art2a'
| ID |
531089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Art2a
|
| Ensembl Gene |
ENSMUSG00000092517 |
| Gene Name |
ADP-ribosyltransferase 2a |
| Synonyms |
Art2a-ps, Rt6, Rt6-1, Rt-6 |
| MMRRC Submission |
044873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
101201660-101210072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 101204221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 106
(L106I)
|
| 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: L106I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000134404
Gene: ENSMUSG00000092517
AA Change: L106I
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,666,558 (GRCm39) |
*288Y |
probably null |
Het |
| Bmi1 |
C |
T |
2: 18,688,840 (GRCm39) |
T203M |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,507,543 (GRCm39) |
D220G |
probably damaging |
Het |
| Cyp2a22 |
A |
C |
7: 26,638,629 (GRCm39) |
D52E |
probably benign |
Het |
| Dag1 |
A |
C |
9: 108,095,216 (GRCm39) |
I92S |
probably damaging |
Het |
| Dntt |
A |
T |
19: 41,025,601 (GRCm39) |
H73L |
probably damaging |
Het |
| Epha5 |
A |
C |
5: 84,253,737 (GRCm39) |
I716S |
probably damaging |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fzd8 |
T |
A |
18: 9,213,238 (GRCm39) |
C107S |
possibly damaging |
Het |
| Garre1 |
G |
A |
7: 33,938,502 (GRCm39) |
A799V |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,273,364 (GRCm39) |
L1047P |
probably damaging |
Het |
| Gstt1 |
A |
T |
10: 75,634,217 (GRCm39) |
|
probably null |
Het |
| Kdm2a |
T |
C |
19: 4,369,271 (GRCm39) |
R1115G |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myo1b |
C |
T |
1: 51,852,207 (GRCm39) |
E179K |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,152,349 (GRCm39) |
I186N |
probably damaging |
Het |
| Or10g3 |
A |
G |
14: 52,610,172 (GRCm39) |
C113R |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,451,476 (GRCm39) |
V835A |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,057,252 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
T |
14: 70,548,333 (GRCm39) |
L238Q |
probably damaging |
Het |
| Spata31e5 |
A |
C |
1: 28,819,191 (GRCm39) |
I30S |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,907,759 (GRCm39) |
I619N |
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 |
|
R3004:Art2a
|
UTSW |
7 |
101,203,972 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
R7693:Art2a
|
UTSW |
7 |
101,204,056 (GRCm39) |
makesense |
probably null |
|
|
R7889:Art2a
|
UTSW |
7 |
101,204,418 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGATGCAAAATGCCCAAATC -3'
(R):5'- GCTAGACATGGCTCCAAATGC -3'
Sequencing Primer
(F):5'- CACACAGAGCCCTTCCCAGTG -3'
(R):5'- GACATGGCTCCAAATGCATTTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation