Mutagenetix > Incidental Mutation

Incidental Mutation 'R5943:Aars2'

460450

Institutional Source

Beutler Lab

Gene Symbol

Aars2

Ensembl Gene

ENSMUSG00000023938

Gene Name

alanyl-tRNA synthetase 2, mitochondrial

Synonyms

Aarsl

MMRRC Submission

044135-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5943 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

45817767-45831769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45828637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 671 (Q671K)

Ref Sequence

ENSEMBL: ENSMUSP00000024733 (fasta)

Gene Model

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

AlphaFold

Q14CH7

Predicted Effect

probably benign
Transcript: ENSMUST00000024733
AA Change: Q671K

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: Q671K

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	G	18: 74,925,453 (GRCm39)	H72R	probably damaging	Het
Acad8	A	G	9: 26,910,740 (GRCm39)	L18P	probably benign	Het
Acap3	T	C	4: 155,983,879 (GRCm39)	V115A	possibly damaging	Het
Adamts9	T	C	6: 92,880,767 (GRCm39)	T503A	probably benign	Het
Adcy1	T	C	11: 7,111,337 (GRCm39)	F876S	probably damaging	Het
Adgrv1	T	C	13: 81,534,985 (GRCm39)	E5760G	probably damaging	Het
Ankrd26	A	T	6: 118,482,707 (GRCm39)	I1631K	probably damaging	Het
Ccdc150	A	G	1: 54,339,526 (GRCm39)	T457A	probably benign	Het
Cd163	T	C	6: 124,306,561 (GRCm39)	*1160R	probably null	Het
Cdc6	T	C	11: 98,811,589 (GRCm39)	S517P	probably damaging	Het
Cenpf	A	T	1: 189,392,166 (GRCm39)	D555E	possibly damaging	Het
Cfap251	A	G	5: 123,424,420 (GRCm39)	T205A	probably benign	Het
Clcn1	T	A	6: 42,269,900 (GRCm39)	I241N	probably damaging	Het
Clrn2	A	T	5: 45,621,061 (GRCm39)	I152F	probably benign	Het
Col4a4	A	G	1: 82,502,737 (GRCm39)	I349T	unknown	Het
Coq8b	T	A	7: 26,933,428 (GRCm39)	F96L	probably damaging	Het
Cp	A	T	3: 20,018,470 (GRCm39)	N58I	probably benign	Het
Dcst1	A	T	3: 89,263,718 (GRCm39)		probably null	Het
Dhrs3	A	T	4: 144,646,546 (GRCm39)	M199L	possibly damaging	Het
Dido1	A	T	2: 180,303,675 (GRCm39)	S1410T	probably benign	Het
Dnase1l2	C	T	17: 24,661,721 (GRCm39)	A13T	probably damaging	Het
Duox1	G	A	2: 122,163,916 (GRCm39)	R861Q	probably benign	Het
Eya2	A	G	2: 165,566,609 (GRCm39)	H220R	probably damaging	Het
Fas	T	G	19: 34,297,987 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,246,948 (GRCm39)	K295*	probably null	Het
Gldn	T	G	9: 54,245,721 (GRCm39)	I424R	possibly damaging	Het
Gnptab	T	C	10: 88,269,376 (GRCm39)	V693A	probably benign	Het
Gsdma	A	T	11: 98,563,852 (GRCm39)	T269S	probably benign	Het
Hectd4	A	T	5: 121,460,357 (GRCm39)	T2209S	probably benign	Het
Hoxd3	A	G	2: 74,577,173 (GRCm39)	N351S	probably benign	Het
Itpkc	T	A	7: 26,912,404 (GRCm39)	N581I	possibly damaging	Het
Kank3	G	T	17: 34,037,375 (GRCm39)	E226D	probably damaging	Het
Krtap5-1	A	G	7: 141,850,788 (GRCm39)	S7P	unknown	Het
Lrriq3	A	G	3: 154,869,587 (GRCm39)	Y304C	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mdn1	T	C	4: 32,678,330 (GRCm39)	S653P	probably damaging	Het
Mri1	A	T	8: 84,980,948 (GRCm39)	L194*	probably null	Het
Mtus1	T	C	8: 41,537,302 (GRCm39)	E138G	probably benign	Het
Myo3b	G	A	2: 70,117,285 (GRCm39)	R906Q	probably benign	Het
Nckipsd	C	T	9: 108,689,435 (GRCm39)	P199S	possibly damaging	Het
Or52n5	T	A	7: 104,587,850 (GRCm39)	I39N	possibly damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pacsin1	T	C	17: 27,925,045 (GRCm39)	L253P	probably damaging	Het
Pcca	T	A	14: 122,896,188 (GRCm39)	I268N	probably damaging	Het
Pcdhga8	A	G	18: 37,949,565 (GRCm39)	D327G	probably damaging	Het
Pcnx4	A	G	12: 72,626,232 (GRCm39)	H1146R	probably damaging	Het
Pnma8b	T	C	7: 16,680,362 (GRCm39)	S449P	probably benign	Het
Psmb9	T	C	17: 34,403,265 (GRCm39)	E61G	probably damaging	Het
Pxylp1	A	G	9: 96,721,203 (GRCm39)	Y101H	probably damaging	Het
Radil	A	G	5: 142,471,213 (GRCm39)	I1044T	probably damaging	Het
Rnf43	G	A	11: 87,622,561 (GRCm39)	R554H	probably damaging	Het
Sp5	A	T	2: 70,305,659 (GRCm39)	Q17L	probably null	Het
Spmip1	T	A	6: 29,471,908 (GRCm39)	L128Q	possibly damaging	Het
Strn	C	A	17: 78,977,276 (GRCm39)	V211F	probably damaging	Het
Sult3a1	A	G	10: 33,742,637 (GRCm39)	D88G	probably damaging	Het
Trim14	T	C	4: 46,522,136 (GRCm39)	I180M	probably benign	Het
Tsnax	C	A	8: 125,751,278 (GRCm39)	S90*	probably null	Het
Ttn	A	G	2: 76,798,780 (GRCm39)	M498T	probably benign	Het
Vmn1r198	T	A	13: 22,539,367 (GRCm39)	Y195*	probably null	Het
Vmn2r70	T	C	7: 85,215,199 (GRCm39)	T112A	probably benign	Het
Wwc2	T	C	8: 48,443,137 (GRCm39)	N32S	possibly damaging	Het
Yme1l1	G	T	2: 23,058,342 (GRCm39)	R158L	probably damaging	Het
Zc2hc1c	C	A	12: 85,336,483 (GRCm39)	H47N	probably damaging	Het
Zc3h10	C	A	10: 128,381,396 (GRCm39)		probably benign	Het
Zfp825	T	C	13: 74,629,007 (GRCm39)	R170G	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
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'- CAGACTAGGATCGACCATTGTC -3'
(R):5'- TCTGGGTACACCTGAGAGGAAG -3'

Sequencing Primer
(F):5'- ACCATTGTCGAGGACCCG -3'
(R):5'- GCAAGGGCCGTCAGCTG -3'

Posted On

2017-02-28