Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Aars2'

30718

Institutional Source

Beutler Lab

Gene Symbol

Aars2

Ensembl Gene

ENSMUSG00000023938

Gene Name

alanyl-tRNA synthetase 2, mitochondrial

Synonyms

Aarsl

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45817767-45831769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45825476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 313 (D313G)

Ref Sequence

ENSEMBL: ENSMUSP00000024733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024733]

AlphaFold

Q14CH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000024733
AA Change: D313G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: D313G

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

0.5352

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	T	A	11: 25,719,092 (GRCm39)	Y17F	unknown	Het
Abca9	A	T	11: 110,006,273 (GRCm39)	D1277E	probably benign	Het
Adgrl1	G	T	8: 84,661,530 (GRCm39)	A981S	probably damaging	Het
Aff3	T	G	1: 38,244,021 (GRCm39)	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,816,994 (GRCm39)	H78L	probably benign	Het
Bltp1	C	T	3: 37,100,401 (GRCm39)	T4707I	probably damaging	Het
Cacna1g	C	A	11: 94,301,880 (GRCm39)	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,038,709 (GRCm39)		probably benign	Het
Carf	T	C	1: 60,183,161 (GRCm39)	V386A	probably damaging	Het
Cd46	A	G	1: 194,768,472 (GRCm39)	S82P	probably benign	Het
Clic5	A	G	17: 44,581,510 (GRCm39)	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,143,898 (GRCm39)	T529A	probably benign	Het
Col7a1	C	T	9: 108,809,305 (GRCm39)	R2627C	unknown	Het
Cuzd1	G	A	7: 130,913,637 (GRCm39)		probably benign	Het
Cwc27	T	C	13: 104,944,331 (GRCm39)	D50G	possibly damaging	Het
Dhx38	A	G	8: 110,281,813 (GRCm39)	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,565,550 (GRCm39)	E834A	probably damaging	Het
Dsg4	A	G	18: 20,603,936 (GRCm39)	D801G	probably damaging	Het
Dtx1	T	C	5: 120,819,464 (GRCm39)	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,433,265 (GRCm39)	H116L	probably damaging	Het
Fbxw18	T	C	9: 109,517,907 (GRCm39)	I360V	possibly damaging	Het
Fignl2	G	A	15: 100,951,974 (GRCm39)	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196 (GRCm39)	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,727,200 (GRCm39)	C545*	probably null	Het
Gm3336	A	G	8: 71,171,294 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,290 (GRCm39)	N518S	probably benign	Het
Hbs1l	T	A	10: 21,218,440 (GRCm39)	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,523,064 (GRCm39)	S247R	probably benign	Het
Ifnb1	A	T	4: 88,440,981 (GRCm39)	F11I	probably benign	Het
Marf1	T	C	16: 13,969,184 (GRCm39)		probably benign	Het
Myo1f	T	A	17: 33,820,930 (GRCm39)	V879E	probably benign	Het
Naip1	A	G	13: 100,545,656 (GRCm39)	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,382,586 (GRCm39)	E529G	probably damaging	Het
Npm3	T	C	19: 45,736,668 (GRCm39)	E157G	probably damaging	Het
Or10x4	A	G	1: 174,218,775 (GRCm39)	T47A	probably damaging	Het
Or4a67	T	A	2: 88,597,985 (GRCm39)	T225S	possibly damaging	Het
Or4a68	G	T	2: 89,269,740 (GRCm39)	N294K	probably benign	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,636,286 (GRCm39)	V768A	probably benign	Het
Prrc1	A	G	18: 57,495,564 (GRCm39)	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,313,105 (GRCm39)	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,811,121 (GRCm39)	V181F	probably damaging	Het
Ror2	T	C	13: 53,286,040 (GRCm39)	N58S	probably damaging	Het
Selplg	G	A	5: 113,958,069 (GRCm39)	T79I	probably damaging	Het
Setd1b	G	A	5: 123,295,500 (GRCm39)	G1023S	unknown	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Skint5	A	G	4: 113,562,793 (GRCm39)	V803A	unknown	Het
Slc25a46	T	C	18: 31,716,319 (GRCm39)	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,657,935 (GRCm39)	I101K	possibly damaging	Het
Spag17	C	A	3: 99,934,906 (GRCm39)	T704K	probably benign	Het
Tas2r144	T	A	6: 42,193,058 (GRCm39)	M266K	possibly damaging	Het
Tasor2	A	G	13: 3,646,842 (GRCm39)	V61A	possibly damaging	Het
Tbc1d31	T	A	15: 57,818,746 (GRCm39)	L783H	probably benign	Het
Tbck	C	A	3: 132,456,993 (GRCm39)		probably benign	Het
Vcan	A	G	13: 89,839,394 (GRCm39)	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,367,987 (GRCm39)	N158K	probably damaging	Het
Vmn2r103	T	A	17: 20,013,121 (GRCm39)	Y81N	probably benign	Het
Vmn2r103	A	G	17: 20,013,726 (GRCm39)	T173A	probably benign	Het
Ylpm1	T	G	12: 85,061,754 (GRCm39)	S552A	unknown	Het
Zdhhc17	A	T	10: 110,817,967 (GRCm39)	Y58*	probably null	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
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'- ATGAGGCAGACTAAAGCCCCATGC -3'
(R):5'- TTTCAGAGCACAGACGTGACCG -3'

Sequencing Primer
(F):5'- CGAGTCACCTTCTTACAAGAGTAG -3'
(R):5'- GTGACCGCCTAGCATCATC -3'

Posted On

2013-04-24