Mutagenetix > Incidental Mutation

Incidental Mutation 'R4610:Aars2'

344664

Institutional Source

Beutler Lab

Gene Symbol

Aars2

Ensembl Gene

ENSMUSG00000023938

Gene Name

alanyl-tRNA synthetase 2, mitochondrial

Synonyms

Aarsl

MMRRC Submission

041821-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4610 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45506841-45520842 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45516921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 555 (D555E)

Ref Sequence

ENSEMBL: ENSMUSP00000024733 (fasta)

Gene Model

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

AlphaFold

Q14CH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000024733
AA Change: D555E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024733
Gene: ENSMUSG00000023938
AA Change: D555E

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (121/124)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468 (GRCm38)	I69N	probably damaging	Het
Adgre1	C	A	17: 57,450,073 (GRCm38)	Q777K	possibly damaging	Het
Agpat4	G	A	17: 12,210,377 (GRCm38)		probably null	Het
Ak7	G	A	12: 105,713,575 (GRCm38)	V123M	probably benign	Het
Ankle1	AT	A	8: 71,407,207 (GRCm38)		probably benign	Het
Ankrd44	T	G	1: 54,766,748 (GRCm38)		probably benign	Het
Aprt	A	T	8: 122,575,415 (GRCm38)		probably null	Het
Aptx	T	C	4: 40,702,766 (GRCm38)		probably null	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
AY358078	T	A	14: 51,826,075 (GRCm38)	C393S	possibly damaging	Het
Bbip1	T	C	19: 53,932,175 (GRCm38)	M1V	probably null	Het
Cacng7	T	A	7: 3,336,691 (GRCm38)	M36K	probably benign	Het
Camta1	A	G	4: 151,084,827 (GRCm38)	W156R	probably damaging	Het
Casd1	G	A	6: 4,631,165 (GRCm38)		probably null	Het
Casz1	T	A	4: 148,933,267 (GRCm38)	Y338N	probably damaging	Het
Ccdc66	T	C	14: 27,500,420 (GRCm38)	N122S	probably damaging	Het
Celf2	G	T	2: 6,586,020 (GRCm38)	N279K	possibly damaging	Het
Cit	A	G	5: 115,994,087 (GRCm38)	T1801A	probably benign	Het
Cnot2	A	G	10: 116,499,418 (GRCm38)	I275T	probably damaging	Het
Ddx4	T	C	13: 112,612,060 (GRCm38)	K435E	probably damaging	Het
Dnajc6	T	C	4: 101,611,264 (GRCm38)	F166L	probably damaging	Het
Dst	T	C	1: 34,169,856 (GRCm38)	L820P	probably damaging	Het
Dusp11	T	A	6: 85,950,055 (GRCm38)	N193Y	probably damaging	Het
Eif3m	A	T	2: 105,013,288 (GRCm38)	N116K	probably benign	Het
Epb41l1	A	T	2: 156,509,261 (GRCm38)	E418D	possibly damaging	Het
Esyt2	T	G	12: 116,318,890 (GRCm38)	N153K	probably damaging	Het
Exoc6b	T	G	6: 85,003,159 (GRCm38)		probably benign	Het
Ezr	C	T	17: 6,739,722 (GRCm38)	E502K	possibly damaging	Het
Fbxw11	T	A	11: 32,711,859 (GRCm38)	Y66N	possibly damaging	Het
Frem2	A	G	3: 53,547,807 (GRCm38)	L2116S	possibly damaging	Het
Fry	T	C	5: 150,386,104 (GRCm38)	L671P	probably damaging	Het
Galnt7	A	G	8: 57,545,769 (GRCm38)	I262T	probably damaging	Het
Glp1r	T	C	17: 30,931,247 (GRCm38)	F381S	probably benign	Het
Gm3867	T	C	9: 36,257,271 (GRCm38)		noncoding transcript	Het
Gm5662	T	C	12: 88,271,774 (GRCm38)	N72S	probably benign	Het
Gm8741	G	T	17: 35,336,086 (GRCm38)		noncoding transcript	Het
Golgb1	A	G	16: 36,918,625 (GRCm38)	D2442G	probably damaging	Het
Gp1bb	A	T	16: 18,621,143 (GRCm38)	L67Q	probably damaging	Het
Gstm7	G	A	3: 107,926,919 (GRCm38)	T206I	possibly damaging	Het
Hist1h2bf	A	T	13: 23,574,057 (GRCm38)	V45E	possibly damaging	Het
Hs3st5	A	T	10: 36,828,806 (GRCm38)	D35V	probably benign	Het
Hspa13	T	C	16: 75,761,302 (GRCm38)	H125R	probably benign	Het
Hspa1a	T	G	17: 34,971,180 (GRCm38)	H249P	probably damaging	Het
Igkv10-95	A	T	6: 68,680,578 (GRCm38)	Q6L	probably damaging	Het
Il1rap	T	A	16: 26,714,776 (GRCm38)	L474H	probably benign	Het
Ipo11	T	A	13: 106,879,737 (GRCm38)	Y489F	probably benign	Het
Itga5	A	G	15: 103,350,832 (GRCm38)	Y723H	probably damaging	Het
Itih2	T	C	2: 10,105,160 (GRCm38)	N594S	probably damaging	Het
Itk	T	A	11: 46,336,515 (GRCm38)	Q427L	probably benign	Het
Kif26b	A	G	1: 178,679,355 (GRCm38)	Y332C	probably damaging	Het
Kmt2c	G	A	5: 25,354,384 (GRCm38)	R1086W	probably damaging	Het
Ktn1	T	A	14: 47,726,179 (GRCm38)		probably benign	Het
Lars2	T	A	9: 123,418,693 (GRCm38)	I305N	probably damaging	Het
Lgmn	G	T	12: 102,400,124 (GRCm38)		probably benign	Het
Ltbp4	C	T	7: 27,306,700 (GRCm38)	E1453K	probably damaging	Het
Lypd8	G	A	11: 58,386,849 (GRCm38)	M152I	probably benign	Het
Man2a1	T	A	17: 64,712,459 (GRCm38)	S773T	probably benign	Het
Map2k6	T	G	11: 110,499,474 (GRCm38)	L278R	probably damaging	Het
Mbtps1	A	T	8: 119,535,347 (GRCm38)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,028,592 (GRCm38)	V60M	probably damaging	Het
Mical3	C	A	6: 120,934,838 (GRCm38)	E1083*	probably null	Het
Mms19	A	G	19: 41,945,496 (GRCm38)	V811A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Mslnl	G	A	17: 25,742,934 (GRCm38)	V128M	probably damaging	Het
Mtcl1	T	A	17: 66,377,887 (GRCm38)	H520L	probably benign	Het
Mymk	A	T	2: 27,062,707 (GRCm38)	F130I	probably damaging	Het
Myo1f	C	T	17: 33,582,332 (GRCm38)	R333C	probably damaging	Het
Myo9a	T	A	9: 59,871,882 (GRCm38)	H1640Q	probably benign	Het
Nav1	A	G	1: 135,592,448 (GRCm38)		probably benign	Het
Ncbp3	G	T	11: 73,079,018 (GRCm38)	G564C	probably damaging	Het
Ncoa4	A	T	14: 32,176,725 (GRCm38)	I501L	probably benign	Het
Ngp	T	A	9: 110,420,815 (GRCm38)	N60K	possibly damaging	Het
Npc1l1	G	T	11: 6,228,215 (GRCm38)	D398E	probably damaging	Het
Nphs2	T	A	1: 156,326,131 (GRCm38)	M264K	probably damaging	Het
Olfr1193	T	G	2: 88,678,179 (GRCm38)	V101G	probably benign	Het
Olfr1193	G	A	2: 88,677,896 (GRCm38)	V14I	probably benign	Het
Olfr145	T	A	9: 37,898,326 (GRCm38)	S307R	probably benign	Het
Olfr58	T	A	9: 19,783,146 (GRCm38)	Y4*	probably null	Het
Patz1	A	G	11: 3,306,241 (GRCm38)	Y509C	probably damaging	Het
Pax8	G	A	2: 24,421,583 (GRCm38)	P447S	probably damaging	Het
Pde11a	A	G	2: 76,158,333 (GRCm38)	V488A	probably benign	Het
Pex11g	C	T	8: 3,465,899 (GRCm38)	V45M	probably benign	Het
Pik3ip1	T	A	11: 3,333,327 (GRCm38)	S142R	probably damaging	Het
Pitpnm2	C	G	5: 124,125,371 (GRCm38)	A819P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382 (GRCm38)	H226P	possibly damaging	Het
Plin4	T	A	17: 56,105,418 (GRCm38)	M538L	probably benign	Het
Ppp3cb	T	C	14: 20,520,646 (GRCm38)	N339S	possibly damaging	Het
Rev1	T	C	1: 38,053,649 (GRCm38)	E1202G	probably damaging	Het
Rngtt	T	A	4: 33,339,133 (GRCm38)		probably benign	Het
Serpinb12	T	A	1: 106,949,153 (GRCm38)	D66E	probably benign	Het
Sgsm1	A	T	5: 113,255,307 (GRCm38)	F958Y	probably damaging	Het
Slc35e2	T	C	4: 155,617,649 (GRCm38)	F290S	probably benign	Het
Sorl1	C	T	9: 42,031,914 (GRCm38)	V889M	possibly damaging	Het
Sptlc3	G	A	2: 139,636,680 (GRCm38)	V520I	probably benign	Het
Stam	A	T	2: 14,115,858 (GRCm38)	H53L	probably damaging	Het
Stox2	A	G	8: 47,192,935 (GRCm38)	S497P	probably damaging	Het
Tarbp1	A	G	8: 126,474,330 (GRCm38)	Y246H	probably damaging	Het
Tbx15	A	G	3: 99,352,367 (GRCm38)	Y518C	probably damaging	Het
Tdrd5	T	A	1: 156,284,374 (GRCm38)	T479S	probably benign	Het
Tescl	T	C	7: 24,333,258 (GRCm38)	E214G	probably damaging	Het
Tex10	T	C	4: 48,452,946 (GRCm38)	D671G	probably benign	Het
Tmem132d	A	G	5: 127,984,296 (GRCm38)	V414A	probably benign	Het
Tmem41b	T	A	7: 109,974,734 (GRCm38)		probably benign	Het
Tnfrsf18	A	G	4: 156,021,880 (GRCm38)		probably benign	Het
Tulp4	T	A	17: 6,198,833 (GRCm38)	D42E	probably damaging	Het
Ubtd1	A	G	19: 42,033,664 (GRCm38)	N125S	probably damaging	Het
Ubxn4	T	A	1: 128,255,449 (GRCm38)	F68I	probably benign	Het
Urb1	A	G	16: 90,776,271 (GRCm38)	S958P	probably benign	Het
Vash2	T	C	1: 190,960,301 (GRCm38)	S226G	probably benign	Het
Vmn2r120	C	T	17: 57,509,120 (GRCm38)	G745E	probably damaging	Het
Vmn2r58	T	A	7: 41,837,693 (GRCm38)	I593F	probably benign	Het
Zfp398	T	C	6: 47,840,427 (GRCm38)	L67P	probably damaging	Het
Zfp607b	T	A	7: 27,703,695 (GRCm38)	H525Q	probably damaging	Het
Zfp629	T	C	7: 127,612,320 (GRCm38)	T106A	probably benign	Het
Zfp980	G	A	4: 145,702,083 (GRCm38)	G461S	probably benign	Het
Zic5	T	A	14: 122,464,800 (GRCm38)	D173V	probably damaging	Het
Zranb2	G	A	3: 157,541,884 (GRCm38)		probably benign	Het

Other mutations in Aars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02958:Aars2	APN	17	45,518,172 (GRCm38)	missense	probably benign	0.00
dread_pirate	UTSW	17	45,516,564 (GRCm38)	missense	probably damaging	1.00
R0266:Aars2	UTSW	17	45,507,510 (GRCm38)	splice site	probably benign
R0315:Aars2	UTSW	17	45,515,452 (GRCm38)	missense	possibly damaging	0.67
R0375:Aars2	UTSW	17	45,514,550 (GRCm38)	missense	probably damaging	0.99
R0629:Aars2	UTSW	17	45,507,547 (GRCm38)	missense	probably damaging	0.99
R0981:Aars2	UTSW	17	45,520,331 (GRCm38)	missense	probably damaging	1.00
R1878:Aars2	UTSW	17	45,514,638 (GRCm38)	critical splice donor site	probably null
R1893:Aars2	UTSW	17	45,514,799 (GRCm38)	missense	probably benign	0.14
R2035:Aars2	UTSW	17	45,514,801 (GRCm38)	missense	possibly damaging	0.87
R2099:Aars2	UTSW	17	45,506,894 (GRCm38)	missense	unknown
R4342:Aars2	UTSW	17	45,516,495 (GRCm38)	missense	probably benign
R4600:Aars2	UTSW	17	45,516,921 (GRCm38)	missense	probably damaging	1.00
R4601:Aars2	UTSW	17	45,516,921 (GRCm38)	missense	probably damaging	1.00
R5158:Aars2	UTSW	17	45,514,829 (GRCm38)	missense	probably benign	0.07
R5943:Aars2	UTSW	17	45,517,711 (GRCm38)	missense	probably benign	0.30
R5992:Aars2	UTSW	17	45,508,623 (GRCm38)	nonsense	probably null
R6255:Aars2	UTSW	17	45,514,609 (GRCm38)	missense	probably damaging	1.00
R6381:Aars2	UTSW	17	45,518,545 (GRCm38)	missense	probably benign	0.04
R6392:Aars2	UTSW	17	45,514,600 (GRCm38)	missense	probably damaging	0.98
R6406:Aars2	UTSW	17	45,506,939 (GRCm38)	missense	probably benign	0.16
R6648:Aars2	UTSW	17	45,516,564 (GRCm38)	missense	probably damaging	1.00
R7135:Aars2	UTSW	17	45,508,961 (GRCm38)	nonsense	probably null
R7197:Aars2	UTSW	17	45,508,959 (GRCm38)	missense	probably damaging	1.00
R7203:Aars2	UTSW	17	45,516,571 (GRCm38)	missense	probably damaging	1.00
R7289:Aars2	UTSW	17	45,507,624 (GRCm38)	missense	probably damaging	0.99
R7669:Aars2	UTSW	17	45,520,295 (GRCm38)	missense	probably benign	0.06
R8303:Aars2	UTSW	17	45,507,597 (GRCm38)	missense	probably damaging	1.00
R8772:Aars2	UTSW	17	45,516,977 (GRCm38)	missense	probably benign	0.19
R8795:Aars2	UTSW	17	45,507,672 (GRCm38)	missense	probably damaging	0.99
R9069:Aars2	UTSW	17	45,507,597 (GRCm38)	missense	probably damaging	1.00
R9206:Aars2	UTSW	17	45,509,404 (GRCm38)	missense	probably benign	0.03
R9342:Aars2	UTSW	17	45,507,076 (GRCm38)	missense	possibly damaging	0.94
R9467:Aars2	UTSW	17	45,516,484 (GRCm38)	missense	probably benign	0.01
R9730:Aars2	UTSW	17	45,518,608 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACCTCCTTCATCTGGAAATGC -3'
(R):5'- AGGGAACAACATGTCCTGGG -3'

Sequencing Primer
(F):5'- GGAAATGCCTTCTCCTTCACC -3'
(R):5'- CAACATGTCCTGGGGAGAAG -3'

Posted On

2015-09-25