Incidental Mutation 'R0315:Aars2'
| ID |
25421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aars2
|
| Ensembl Gene |
ENSMUSG00000023938 |
| Gene Name |
alanyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
Aarsl |
| MMRRC Submission |
038525-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0315 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45817767-45831769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45826378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 409
(R409Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024733]
|
| AlphaFold |
Q14CH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024733
AA Change: R409Q
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: R409Q
| 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 |
|
| Meta Mutation Damage Score |
0.0815 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.9%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| Ank3 |
A |
T |
10: 69,838,347 (GRCm39) |
Q825L |
probably damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,545,667 (GRCm39) |
I107V |
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,457,457 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,441,306 (GRCm39) |
V54I |
possibly damaging |
Het |
| Dpys |
T |
G |
15: 39,720,734 (GRCm39) |
I9L |
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,029 (GRCm39) |
G1400C |
unknown |
Het |
| Gm28042 |
T |
C |
2: 119,869,538 (GRCm39) |
L634P |
probably damaging |
Het |
| Gm6712 |
G |
A |
17: 17,536,380 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
G |
13: 111,573,072 (GRCm39) |
E360A |
possibly damaging |
Het |
| Hmgn1 |
A |
C |
16: 95,926,017 (GRCm39) |
I52R |
probably benign |
Het |
| Ing2 |
A |
C |
8: 48,122,125 (GRCm39) |
M141R |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,196,053 (GRCm39) |
Y563* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,502,802 (GRCm39) |
T258A |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,624 (GRCm39) |
I1699N |
unknown |
Het |
| Map2k5 |
A |
T |
9: 63,210,433 (GRCm39) |
H185Q |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Mroh1 |
C |
T |
15: 76,311,800 (GRCm39) |
A511V |
possibly damaging |
Het |
| Nop53 |
T |
C |
7: 15,679,235 (GRCm39) |
D90G |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,001 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,598 (GRCm39) |
V182D |
possibly damaging |
Het |
| Or5w20 |
A |
T |
2: 87,727,410 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,607,716 (GRCm39) |
S72T |
possibly damaging |
Het |
| Prc1 |
T |
C |
7: 79,963,284 (GRCm39) |
S587P |
probably damaging |
Het |
| Rdh7 |
G |
T |
10: 127,724,265 (GRCm39) |
T73K |
possibly damaging |
Het |
| Runx1 |
T |
C |
16: 92,402,655 (GRCm39) |
N429S |
probably damaging |
Het |
| Skint7 |
G |
A |
4: 111,845,315 (GRCm39) |
A376T |
possibly damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,217 (GRCm39) |
I363V |
possibly damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,634,970 (GRCm39) |
Q350* |
probably null |
Het |
| Soat1 |
T |
A |
1: 156,268,083 (GRCm39) |
K275* |
probably null |
Het |
| Speg |
T |
C |
1: 75,391,780 (GRCm39) |
V1571A |
possibly damaging |
Het |
| Stat5b |
G |
C |
11: 100,679,286 (GRCm39) |
D605E |
probably benign |
Het |
| Susd4 |
G |
A |
1: 182,686,077 (GRCm39) |
R209H |
probably benign |
Het |
| Tlr1 |
T |
G |
5: 65,084,271 (GRCm39) |
D102A |
probably damaging |
Het |
| Tm4sf5 |
A |
G |
11: 70,401,462 (GRCm39) |
N154D |
probably damaging |
Het |
| Tmigd3 |
T |
A |
3: 105,824,085 (GRCm39) |
M18K |
probably damaging |
Het |
| Ube2h |
A |
T |
6: 30,241,412 (GRCm39) |
V86E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,283 (GRCm39) |
L613P |
probably damaging |
Het |
| Vmn2r117 |
G |
A |
17: 23,679,139 (GRCm39) |
S695L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,213,825 (GRCm39) |
D427G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,079,314 (GRCm39) |
F2403I |
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 |
|
|
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 |
|
R9730:Aars2
|
UTSW |
17 |
45,829,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTCTCAAAGCATCTGAGCCCC -3'
(R):5'- TGAAGTCCTTGGTAGGCCAAAAGC -3'
Sequencing Primer
(F):5'- AGGGATCTGCTTATCCAGAACTTG -3'
(R):5'- TTGGTAGGCCAAAAGCTCTGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation