Incidental Mutation 'R6392:Aars2'
ID |
515835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aars2
|
Ensembl Gene |
ENSMUSG00000023938 |
Gene Name |
alanyl-tRNA synthetase 2, mitochondrial |
Synonyms |
Aarsl |
MMRRC Submission |
044541-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6392 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
45817767-45831769 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45825526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 330
(I330F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024733
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024733]
|
AlphaFold |
Q14CH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024733
AA Change: I330F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024733 Gene: ENSMUSG00000023938 AA Change: I330F
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 |
0.4840 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.1%
|
Validation Efficiency |
96% (47/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,627,825 (GRCm39) |
S402P |
probably damaging |
Het |
Ada |
A |
G |
2: 163,570,137 (GRCm39) |
L292P |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,038 (GRCm39) |
N395K |
probably benign |
Het |
Adra1d |
T |
C |
2: 131,403,529 (GRCm39) |
D187G |
probably damaging |
Het |
AI467606 |
C |
A |
7: 126,691,717 (GRCm39) |
Y97* |
probably null |
Het |
Arid2 |
A |
G |
15: 96,259,483 (GRCm39) |
E245G |
probably damaging |
Het |
Ccdc78 |
C |
G |
17: 26,007,148 (GRCm39) |
Q213E |
probably damaging |
Het |
Cntnap1 |
G |
T |
11: 101,077,472 (GRCm39) |
D1045Y |
probably damaging |
Het |
Ctcf |
T |
C |
8: 106,390,765 (GRCm39) |
V124A |
probably damaging |
Het |
Cutc |
T |
C |
19: 43,748,489 (GRCm39) |
S129P |
possibly damaging |
Het |
Dhx36 |
T |
C |
3: 62,401,790 (GRCm39) |
I308V |
probably benign |
Het |
Disp2 |
T |
C |
2: 118,621,230 (GRCm39) |
V654A |
probably damaging |
Het |
Esm1 |
G |
A |
13: 113,346,283 (GRCm39) |
|
probably benign |
Het |
Extl1 |
C |
T |
4: 134,091,945 (GRCm39) |
V303I |
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,094,630 (GRCm39) |
D387E |
probably damaging |
Het |
Fbf1 |
T |
A |
11: 116,043,775 (GRCm39) |
|
probably null |
Het |
Fbxl12 |
T |
C |
9: 20,550,472 (GRCm39) |
H84R |
probably damaging |
Het |
Fbxo6 |
C |
T |
4: 148,230,462 (GRCm39) |
V267I |
probably benign |
Het |
Helz |
G |
T |
11: 107,493,167 (GRCm39) |
A197S |
possibly damaging |
Het |
Ikbke |
T |
C |
1: 131,202,883 (GRCm39) |
|
probably null |
Het |
Kbtbd13 |
A |
G |
9: 65,297,619 (GRCm39) |
F439S |
possibly damaging |
Het |
Kif7 |
G |
A |
7: 79,351,934 (GRCm39) |
R943W |
probably damaging |
Het |
Lrp12 |
C |
T |
15: 39,735,415 (GRCm39) |
C839Y |
probably damaging |
Het |
Matr3 |
A |
G |
18: 35,717,894 (GRCm39) |
D364G |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,434,875 (GRCm39) |
K624E |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,166,820 (GRCm39) |
S280P |
possibly damaging |
Het |
Or4a66 |
A |
T |
2: 88,531,011 (GRCm39) |
Y221N |
probably damaging |
Het |
Or52a33 |
A |
C |
7: 103,288,889 (GRCm39) |
C153G |
probably benign |
Het |
Pira2 |
A |
T |
7: 3,846,901 (GRCm39) |
S214T |
possibly damaging |
Het |
Prss3b |
T |
C |
6: 41,009,306 (GRCm39) |
Y176C |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,700,853 (GRCm39) |
I30F |
probably benign |
Het |
Rnf144a |
T |
C |
12: 26,360,779 (GRCm39) |
I253V |
possibly damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,373,302 (GRCm39) |
L823Q |
possibly damaging |
Het |
Sh3rf3 |
A |
T |
10: 58,842,898 (GRCm39) |
D288V |
probably damaging |
Het |
Shprh |
T |
A |
10: 11,054,485 (GRCm39) |
Y1031* |
probably null |
Het |
Sidt1 |
T |
C |
16: 44,111,657 (GRCm39) |
T173A |
possibly damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Ssh3 |
C |
T |
19: 4,315,399 (GRCm39) |
R309H |
probably benign |
Het |
Tagap |
G |
T |
17: 8,152,893 (GRCm39) |
G693W |
probably damaging |
Het |
Tango2 |
T |
A |
16: 18,119,403 (GRCm39) |
I143F |
probably damaging |
Het |
Thsd7a |
T |
C |
6: 12,468,928 (GRCm39) |
H550R |
probably damaging |
Het |
Tmem131 |
T |
A |
1: 36,920,423 (GRCm39) |
Q92H |
probably benign |
Het |
Tnfrsf21 |
T |
C |
17: 43,327,979 (GRCm39) |
L31P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,730,487 (GRCm39) |
|
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,926,268 (GRCm39) |
D493G |
probably damaging |
Het |
Unc13a |
C |
T |
8: 72,090,453 (GRCm39) |
G1411D |
possibly damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfc3h1 |
A |
T |
10: 115,237,653 (GRCm39) |
R477S |
probably damaging |
Het |
Zfp87 |
C |
T |
13: 67,664,986 (GRCm39) |
R492K |
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 |
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'- TCCTACAGGATGTGGTGGTC -3'
(R):5'- AACTAGCCTGGAGGGTTTCAG -3'
Sequencing Primer
(F):5'- TTATGGCTGTGAACAAGCATGCAC -3'
(R):5'- GTTTCAGAGCACAGACGTGACC -3'
|
Posted On |
2018-05-04 |