Incidental Mutation 'R6648:Aars2'
| ID |
524400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aars2
|
| Ensembl Gene |
ENSMUSG00000023938 |
| Gene Name |
alanyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
Aarsl |
| MMRRC Submission |
044769-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45817767-45831769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45827490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 511
(Y511H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024733]
|
| AlphaFold |
Q14CH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024733
AA Change: Y511H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: Y511H
| 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 |
0.6188 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
98% (42/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef38 |
A |
T |
3: 132,838,236 (GRCm39) |
I600N |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,323,395 (GRCm39) |
C1270S |
probably damaging |
Het |
| Ccar2 |
T |
G |
14: 70,376,674 (GRCm39) |
D890A |
probably benign |
Het |
| Cep76 |
A |
T |
18: 67,752,804 (GRCm39) |
V548D |
probably benign |
Het |
| Chat |
T |
G |
14: 32,176,651 (GRCm39) |
Q41P |
probably benign |
Het |
| Ddx24 |
T |
A |
12: 103,374,634 (GRCm39) |
N850I |
probably benign |
Het |
| Dst |
A |
G |
1: 34,301,122 (GRCm39) |
I5879V |
possibly damaging |
Het |
| Ece1 |
A |
G |
4: 137,648,470 (GRCm39) |
T92A |
probably benign |
Het |
| Ecrg4 |
T |
A |
1: 43,777,851 (GRCm39) |
F87I |
probably damaging |
Het |
| Fpgs |
G |
T |
2: 32,574,799 (GRCm39) |
C439* |
probably null |
Het |
| H2-Q4 |
A |
T |
17: 35,601,981 (GRCm39) |
E281V |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,252,299 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
T |
C |
13: 95,818,719 (GRCm39) |
E679G |
probably benign |
Het |
| Kif12 |
A |
T |
4: 63,089,554 (GRCm39) |
|
probably null |
Het |
| Kif21b |
T |
C |
1: 136,080,135 (GRCm39) |
V557A |
probably benign |
Het |
| Mki67 |
C |
G |
7: 135,299,169 (GRCm39) |
S1955T |
probably damaging |
Het |
| Mybpc1 |
G |
A |
10: 88,358,861 (GRCm39) |
T1110M |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,650,972 (GRCm39) |
H1625R |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,466,710 (GRCm39) |
T704M |
probably damaging |
Het |
| Or1ad6 |
G |
A |
11: 50,860,000 (GRCm39) |
D52N |
probably damaging |
Het |
| Or5a21 |
A |
T |
19: 12,311,130 (GRCm39) |
M30K |
probably benign |
Het |
| Osbpl9 |
C |
A |
4: 108,948,876 (GRCm39) |
Q91H |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,553,185 (GRCm39) |
L665Q |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,838,996 (GRCm39) |
D53G |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,591,172 (GRCm39) |
D189G |
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,933,398 (GRCm39) |
Q676L |
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,676 (GRCm39) |
S134P |
probably benign |
Het |
| Rln1 |
G |
T |
19: 29,309,521 (GRCm39) |
T86K |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,370,746 (GRCm39) |
A4785T |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,148,111 (GRCm39) |
C1274R |
probably benign |
Het |
| Slc35a5 |
A |
T |
16: 44,964,280 (GRCm39) |
F318I |
probably damaging |
Het |
| Slc41a3 |
T |
C |
6: 90,596,490 (GRCm39) |
F20L |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,527,633 (GRCm39) |
N189K |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,557,148 (GRCm39) |
E1196V |
probably damaging |
Het |
| Tmc3 |
T |
A |
7: 83,246,751 (GRCm39) |
V164D |
probably damaging |
Het |
| Trim46 |
T |
C |
3: 89,142,549 (GRCm39) |
E623G |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,180,030 (GRCm39) |
C3403* |
probably null |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,694 (GRCm39) |
T104S |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,097,097 (GRCm39) |
I111V |
probably benign |
Het |
| Zmynd11 |
T |
G |
13: 9,763,057 (GRCm39) |
S95R |
probably benign |
Het |
| Zswim4 |
C |
A |
8: 84,957,543 (GRCm39) |
R175L |
probably benign |
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 |
|
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'- AGTTCTCTGTGCACCTGACAC -3'
(R):5'- GATTTATCAGTGTTAGGGCCCC -3'
Sequencing Primer
(F):5'- GTGCACCTGACACCCCCTC -3'
(R):5'- CCCCGGGGATGTGATGATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation