Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Aars2'

480921

Institutional Source

Beutler Lab

Gene Symbol

Aars2

Ensembl Gene

ENSMUSG00000023938

Gene Name

alanyl-tRNA synthetase 2, mitochondrial

Synonyms

Aarsl

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45817767-45831769 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 45819549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 188 (L188*)

Ref Sequence

ENSEMBL: ENSMUSP00000024733 (fasta)

Gene Model

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

AlphaFold

Q14CH7

Predicted Effect

probably null
Transcript: ENSMUST00000024733
AA Change: L188*

SMART Domains

Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: L188*

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: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	C	T	14: 103,292,471 (GRCm39)	R332C	probably damaging	Het
Adamts3	T	A	5: 89,839,194 (GRCm39)	K852M	probably damaging	Het
Adm	A	T	7: 110,226,903 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,263,837 (GRCm39)	S286G	probably damaging	Het
Ank2	A	G	3: 126,753,300 (GRCm39)		probably null	Het
Aqr	A	T	2: 113,973,530 (GRCm39)	Y427*	probably null	Het
Arid1b	C	A	17: 5,045,231 (GRCm39)		probably benign	Het
Arpp21	T	A	9: 111,972,553 (GRCm39)	R259*	probably null	Het
Cep290	C	T	10: 100,379,183 (GRCm39)	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Clcn2	T	C	16: 20,532,404 (GRCm39)	E68G	possibly damaging	Het
Corin	T	A	5: 72,473,732 (GRCm39)	H699L	probably benign	Het
Cyld	T	C	8: 89,459,681 (GRCm39)	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,259,883 (GRCm39)	E613V	probably damaging	Het
Dlk1	T	C	12: 109,421,507 (GRCm39)	C74R	probably damaging	Het
Dnah12	A	C	14: 26,418,496 (GRCm39)	K128T	probably benign	Het
Dspp	T	A	5: 104,326,317 (GRCm39)	S893R	unknown	Het
Dtl	A	T	1: 191,300,684 (GRCm39)		probably null	Het
F2rl1	T	A	13: 95,650,778 (GRCm39)	S35C	probably benign	Het
Fcgbp	A	T	7: 27,819,959 (GRCm39)	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,852,044 (GRCm39)	D42V	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm21190	T	A	5: 15,729,849 (GRCm39)	E256D	probably damaging	Het
Gm5157	A	G	7: 20,919,346 (GRCm39)	S66P	probably damaging	Het
Hal	T	G	10: 93,326,778 (GRCm39)	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,207,284 (GRCm39)		probably null	Het
Lrrc37	A	T	11: 103,504,618 (GRCm39)	M2450K	possibly damaging	Het
Lrsam1	T	C	2: 32,845,234 (GRCm39)	T94A	probably benign	Het
Macc1	T	C	12: 119,411,320 (GRCm39)	V696A	probably damaging	Het
Magi2	G	A	5: 19,432,289 (GRCm39)	M1I	probably null	Het
Marchf7	C	A	2: 60,075,564 (GRCm39)	N674K	probably benign	Het
Mfap1b	A	G	2: 121,300,776 (GRCm39)	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069 (GRCm39)	S40L	probably benign	Het
Ndufs2	A	T	1: 171,063,987 (GRCm39)	V386E	probably damaging	Het
Nfic	C	T	10: 81,256,581 (GRCm39)	A19T	probably damaging	Het
Nfs1	G	A	2: 155,976,373 (GRCm39)	R174W	probably damaging	Het
Nin	G	T	12: 70,092,298 (GRCm39)	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,930,935 (GRCm39)	I754V	probably benign	Het
Nwd1	T	C	8: 73,380,201 (GRCm39)		probably null	Het
Or4a39	T	A	2: 89,237,223 (GRCm39)	M67L	probably benign	Het
Or4c1	T	A	2: 89,133,703 (GRCm39)	T78S	possibly damaging	Het
Or51a6	G	T	7: 102,604,216 (GRCm39)	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,896,502 (GRCm39)	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,246,723 (GRCm39)	R638*	probably null	Het
Pkmyt1	G	C	17: 23,954,300 (GRCm39)	W360S	probably benign	Het
Plxnd1	C	A	6: 115,944,748 (GRCm39)		probably null	Het
Poldip3	A	T	15: 83,013,430 (GRCm39)	N322K	probably damaging	Het
Prmt3	A	T	7: 49,478,695 (GRCm39)	I419L	probably benign	Het
Prss36	A	T	7: 127,544,002 (GRCm39)	V123E	probably damaging	Het
Prss58	A	G	6: 40,874,703 (GRCm39)	I46T	probably damaging	Het
Rac1	T	C	5: 143,492,753 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,220 (GRCm39)	Y36C	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	T	1: 4,218,926 (GRCm39)	F951L	unknown	Het
Rps6ka5	G	T	12: 100,541,509 (GRCm39)	P417T	possibly damaging	Het
Ryr1	A	G	7: 28,767,062 (GRCm39)	W2967R	probably damaging	Het
Sacs	T	A	14: 61,442,992 (GRCm39)	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,165,800 (GRCm39)	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,373,726 (GRCm39)	Y114C	probably damaging	Het
Son	T	C	16: 91,455,792 (GRCm39)	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534 (GRCm39)	V447M	probably benign	Het
St3gal2	T	A	8: 111,696,185 (GRCm39)	Y257N	probably damaging	Het
Tars1	A	T	15: 11,397,282 (GRCm39)	D40E	probably damaging	Het
Tlr3	T	C	8: 45,850,851 (GRCm39)	H158R	probably benign	Het
Tppp2	G	T	14: 52,156,392 (GRCm39)	V50L	probably benign	Het
Trrap	T	C	5: 144,746,994 (GRCm39)	S1503P	probably benign	Het
Ttll4	T	G	1: 74,724,550 (GRCm39)	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,249,747 (GRCm39)	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,167,068 (GRCm39)	C688S	probably damaging	Het
Vps16	T	C	2: 130,266,369 (GRCm39)		probably null	Het
Zfp608	G	A	18: 55,032,320 (GRCm39)	T540I	probably benign	Het
Zfp775	G	A	6: 48,596,750 (GRCm39)	R208Q	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
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
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'- TGGCCCCAATGTCACATCTC -3'
(R):5'- TGGCATGTTCAGAAGCTGGC -3'

Sequencing Primer
(F):5'- AATGTCACATCTCTCCACCCC -3'
(R):5'- TGTTCAGAAGCTGGCAACCTC -3'

Posted On

2017-06-26