Incidental Mutation 'R0981:Aars2'
| ID |
97223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aars2
|
| Ensembl Gene |
ENSMUSG00000023938 |
| Gene Name |
alanyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
Aarsl |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0981 (G1)
|
| Quality Score |
97 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
45817767-45831769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45831257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 942
(C942S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024733]
[ENSMUST00000113547]
|
| AlphaFold |
Q14CH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024733
AA Change: C942S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: C942S
| 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: 99.5%
- 3x: 98.4%
- 10x: 95.4%
- 20x: 89.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
C |
3: 127,473,051 (GRCm39) |
N984S |
possibly damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,961 (GRCm39) |
S960P |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,851,491 (GRCm39) |
N66K |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,863,632 (GRCm39) |
G39R |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,428,208 (GRCm39) |
M7V |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,329,654 (GRCm39) |
R24L |
probably benign |
Het |
| Dlg5 |
T |
G |
14: 24,204,699 (GRCm39) |
R1258S |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,054,914 (GRCm39) |
Q148R |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,784,535 (GRCm39) |
Y198* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,588 (GRCm39) |
|
probably null |
Het |
| Glis1 |
A |
G |
4: 107,472,239 (GRCm39) |
E272G |
probably damaging |
Het |
| Gm13741 |
T |
C |
2: 87,486,578 (GRCm39) |
N229S |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,922 (GRCm39) |
I392F |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,521 (GRCm39) |
T162A |
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,720,949 (GRCm39) |
R190W |
probably damaging |
Het |
| Irf1 |
T |
C |
11: 53,664,548 (GRCm39) |
*52R |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,484,314 (GRCm39) |
M1L |
unknown |
Het |
| Mgat1 |
C |
T |
11: 49,151,882 (GRCm39) |
R122C |
probably damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,639,030 (GRCm39) |
L54S |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,178,873 (GRCm39) |
L676F |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,226,174 (GRCm39) |
I786T |
probably damaging |
Het |
| Or5p64 |
AGGT |
A |
7: 107,855,228 (GRCm39) |
|
probably benign |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Pfn1 |
G |
A |
11: 70,542,964 (GRCm39) |
R137C |
probably benign |
Het |
| Pgbd5 |
G |
A |
8: 125,111,032 (GRCm39) |
R129* |
probably null |
Het |
| Pibf1 |
T |
C |
14: 99,388,179 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,861 (GRCm39) |
|
probably null |
Het |
| Plin5 |
C |
A |
17: 56,421,020 (GRCm39) |
R215L |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,550 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
T |
G |
1: 153,635,345 (GRCm39) |
C608G |
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,281,465 (GRCm39) |
V218D |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,016,841 (GRCm39) |
I29V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,752,000 (GRCm39) |
W939R |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,157,164 (GRCm39) |
R15L |
probably damaging |
Het |
| Tmx3 |
T |
C |
18: 90,555,324 (GRCm39) |
V347A |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,389 (GRCm39) |
T122A |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,475,528 (GRCm39) |
L642P |
probably benign |
Het |
| Zfp808 |
C |
A |
13: 62,319,487 (GRCm39) |
H239N |
possibly 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 |
|
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 |
|
R9730:Aars2
|
UTSW |
17 |
45,829,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCAGTTCCTTGCAAACAAGTCTC -3'
(R):5'- GGGTGACCTTCTTTGGCTCAGATAC -3'
Sequencing Primer
(F):5'- GACACTCATCACTTCCATGCG -3'
(R):5'- CCTCCAGGAAAGCTCTGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation