Incidental Mutation 'R9730:Aars2'
| ID |
736031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aars2
|
| Ensembl Gene |
ENSMUSG00000023938 |
| Gene Name |
alanyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
Aarsl |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
45817767-45831769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45829534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 807
(R807Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024733]
[ENSMUST00000113547]
|
| AlphaFold |
Q14CH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024733
AA Change: R807Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: R807Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_2c
|
36 |
619 |
4e-175 |
PFAM |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
tRNA_SAD
|
716 |
774 |
2.65e-10 |
SMART |
|
coiled coil region
|
833 |
863 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113547
|
| SMART Domains |
Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
Blast:LRR
|
235 |
274 |
7e-14 |
BLAST |
|
LRR
|
304 |
331 |
5.02e-6 |
SMART |
|
LRR
|
332 |
358 |
1.28e-3 |
SMART |
|
LRR
|
359 |
386 |
5.81e-2 |
SMART |
|
LRR
|
387 |
414 |
2.05e-2 |
SMART |
|
LRR
|
415 |
442 |
1.13e-4 |
SMART |
|
Blast:LRR
|
443 |
470 |
3e-8 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
| Alox12 |
C |
T |
11: 70,140,920 (GRCm39) |
A372T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
| Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,926,470 (GRCm39) |
T120A |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
| Etnppl |
C |
T |
3: 130,415,958 (GRCm39) |
A115V |
probably damaging |
Het |
| Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,688,395 (GRCm39) |
T419A |
probably damaging |
Het |
| Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
| Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
| Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
| Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
| Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
| Plaa |
G |
A |
4: 94,466,660 (GRCm39) |
P484S |
probably benign |
Het |
| Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,325,732 (GRCm39) |
D293V |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
| Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,492,139 (GRCm39) |
E212G |
probably damaging |
Het |
| Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
| Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
probably damaging |
Het |
|
| Other mutations in Aars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02958:Aars2
|
APN |
17 |
45,829,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
dread_pirate
|
UTSW |
17 |
45,827,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Aars2
|
UTSW |
17 |
45,818,436 (GRCm39) |
splice site |
probably benign |
|
|
R0315:Aars2
|
UTSW |
17 |
45,826,378 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0375:Aars2
|
UTSW |
17 |
45,825,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0629:Aars2
|
UTSW |
17 |
45,818,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0981:Aars2
|
UTSW |
17 |
45,831,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Aars2
|
UTSW |
17 |
45,825,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1893:Aars2
|
UTSW |
17 |
45,825,725 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2035:Aars2
|
UTSW |
17 |
45,825,727 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2099:Aars2
|
UTSW |
17 |
45,817,820 (GRCm39) |
missense |
unknown |
|
|
R4342:Aars2
|
UTSW |
17 |
45,827,421 (GRCm39) |
missense |
probably benign |
|
|
R4600:Aars2
|
UTSW |
17 |
45,827,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Aars2
|
UTSW |
17 |
45,827,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Aars2
|
UTSW |
17 |
45,827,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Aars2
|
UTSW |
17 |
45,825,755 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5943:Aars2
|
UTSW |
17 |
45,828,637 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5992:Aars2
|
UTSW |
17 |
45,819,549 (GRCm39) |
nonsense |
probably null |
|
|
R6255:Aars2
|
UTSW |
17 |
45,825,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Aars2
|
UTSW |
17 |
45,829,471 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6392:Aars2
|
UTSW |
17 |
45,825,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6406:Aars2
|
UTSW |
17 |
45,817,865 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6648:Aars2
|
UTSW |
17 |
45,827,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Aars2
|
UTSW |
17 |
45,819,887 (GRCm39) |
nonsense |
probably null |
|
|
R7197:Aars2
|
UTSW |
17 |
45,819,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Aars2
|
UTSW |
17 |
45,827,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Aars2
|
UTSW |
17 |
45,818,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7669:Aars2
|
UTSW |
17 |
45,831,221 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8303:Aars2
|
UTSW |
17 |
45,818,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Aars2
|
UTSW |
17 |
45,827,903 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8795:Aars2
|
UTSW |
17 |
45,818,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9069:Aars2
|
UTSW |
17 |
45,818,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9206:Aars2
|
UTSW |
17 |
45,820,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9342:Aars2
|
UTSW |
17 |
45,818,002 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9467:Aars2
|
UTSW |
17 |
45,827,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGCAAACATTTCTAATACTGC -3'
(R):5'- TATGGTCAGAGCCGTGTGTC -3'
Sequencing Primer
(F):5'- ACATTTCTAATACTGCCCAGACTG -3'
(R):5'- TCTCCTGACTGACAGTGCCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation