Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Rars'

537123

Institutional Source

Beutler Lab

Gene Symbol

Rars

Ensembl Gene

ENSMUSG00000018848

Gene Name

arginyl-tRNA synthetase

Synonyms

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35808381-35834506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35808486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 660 (M660K)

Ref Sequence

ENSEMBL: ENSMUSP00000018992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018992]

AlphaFold

Q9D0I9

Predicted Effect

probably damaging
Transcript: ENSMUST00000018992
AA Change: M660K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: M660K

Domain	Start	End	E-Value	Type
Blast:Arg_tRNA_synt_N	16	60	6e-13	BLAST
Arg_tRNA_synt_N	78	166	1.6e-27	SMART
Pfam:tRNA-synt_1d	174	520	1.2e-164	PFAM
DALR_1	534	660	3.12e-30	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,943,053	D103E	probably benign	Het
Abcc3	A	T	11: 94,375,555	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,029,183	Y214C	possibly damaging	Het
Azi2	A	G	9: 118,049,895		probably null	Het
BC067074	C	A	13: 113,318,378	S319R	probably damaging	Het
Cacnb2	T	A	2: 14,986,015	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,374,562	T169P	probably damaging	Het
Cfap44	G	A	16: 44,404,132	V68I	probably benign	Het
Eea1	G	T	10: 96,037,478	C1134F	probably benign	Het
Ehmt2	T	G	17: 34,912,772	F1192V	probably damaging	Het
Emc1	T	C	4: 139,365,350	F531L	probably damaging	Het
Eme1	G	A	11: 94,650,477	T173I	probably benign	Het
Gli2	A	T	1: 118,844,416	C520S	probably damaging	Het
Gm43302	T	C	5: 105,280,138	K186E	probably benign	Het
Gpr108	A	T	17: 57,236,990	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,955,642	T135N	probably benign	Het
Hydin	G	A	8: 110,532,856	D2487N	possibly damaging	Het
Igfl3	G	T	7: 18,179,800	R25L	probably benign	Het
Igsf10	A	C	3: 59,331,933	S276A	probably benign	Het
Kctd1	A	G	18: 14,973,988	S211P	probably damaging	Het
Kctd7	A	T	5: 130,152,501	Q255L	probably benign	Het
Lrig1	A	G	6: 94,625,063	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myh15	A	G	16: 49,153,111	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,944,109	F408S	probably benign	Het
Nrp1	T	C	8: 128,493,057	F652S	probably damaging	Het
Olfr1338	G	A	4: 118,754,307	T79I	probably damaging	Het
Olfr487	A	T	7: 108,211,918	F204I	probably benign	Het
Olfr574	A	T	7: 102,948,768	H91L	possibly damaging	Het
Olfr821	T	C	10: 130,034,532	M302T	probably benign	Het
Opa1	G	T	16: 29,620,868	R792L	probably benign	Het
Pcdha6	G	T	18: 36,968,343	L196F	probably damaging	Het
Pdia2	A	T	17: 26,196,970	Y347*	probably null	Het
Pdpr	G	T	8: 111,124,613		probably null	Het
Pigt	T	A	2: 164,507,331	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,737,981	D591A	possibly damaging	Het
Prrg2	G	A	7: 45,059,989	T97M	possibly damaging	Het
Qars	A	G	9: 108,513,183	T428A	probably damaging	Het
Rai1	T	C	11: 60,185,715	F202L	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925		probably benign	Het
Slc16a6	A	C	11: 109,455,040	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,954,153	T330A	probably damaging	Het
Smc1b	A	T	15: 85,067,759	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,251,470	A4S	possibly damaging	Het
Sv2b	A	C	7: 75,125,767		probably null	Het
Syt9	A	T	7: 107,425,286	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,773,353	E198G	probably damaging	Het
Ubr3	A	T	2: 69,944,300	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,797,871	C3286S	probably damaging	Het
Vill	A	G	9: 119,065,882	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,747,370	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,117,267	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,472,574	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,601,142	V197A	probably benign	Het
Wasf1	A	T	10: 40,920,369	I32F	probably damaging	Het
Wasf2	G	T	4: 133,194,730	A387S	unknown	Het
Wdr92	G	A	11: 17,222,309	V133M	probably damaging	Het
Zbtb14	G	A	17: 69,387,679	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671	A37S	probably damaging	Het
Zfp532	A	G	18: 65,686,990	E882G	possibly damaging	Het

Other mutations in Rars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Rars	APN	11	35825981	splice site	probably benign
IGL01672:Rars	APN	11	35808553	missense	probably damaging	0.99
IGL01721:Rars	APN	11	35828664	missense	probably damaging	1.00
IGL01887:Rars	APN	11	35825995	missense	probably benign	0.03
IGL02605:Rars	APN	11	35824526	splice site	probably benign
IGL03296:Rars	APN	11	35816696	nonsense	probably null
IGL03354:Rars	APN	11	35824475	missense	probably damaging	1.00
R0410:Rars	UTSW	11	35826020	missense	probably damaging	1.00
R1193:Rars	UTSW	11	35809326	missense	possibly damaging	0.92
R1222:Rars	UTSW	11	35809740	missense	probably damaging	1.00
R1418:Rars	UTSW	11	35809740	missense	probably damaging	1.00
R1562:Rars	UTSW	11	35821094	critical splice donor site	probably null
R1768:Rars	UTSW	11	35809638	missense	probably damaging	1.00
R1800:Rars	UTSW	11	35825995	missense	probably benign	0.03
R2055:Rars	UTSW	11	35826583	splice site	probably benign
R2294:Rars	UTSW	11	35817536	splice site	probably benign
R4281:Rars	UTSW	11	35821224	missense	probably damaging	1.00
R4807:Rars	UTSW	11	35809146	missense	possibly damaging	0.81
R4898:Rars	UTSW	11	35808558	missense	probably damaging	1.00
R5522:Rars	UTSW	11	35817368	nonsense	probably null
R5907:Rars	UTSW	11	35828648	missense	probably damaging	1.00
R6243:Rars	UTSW	11	35826547	missense	possibly damaging	0.64
R6289:Rars	UTSW	11	35826067	missense	probably damaging	1.00
R6550:Rars	UTSW	11	35833183	missense	probably benign	0.00
R7260:Rars	UTSW	11	35834454	missense	probably benign	0.00
R7682:Rars	UTSW	11	35828752	missense	probably benign	0.00
R7808:Rars	UTSW	11	35828707	missense	probably benign
R7822:Rars	UTSW	11	35819966	missense	probably damaging	0.99
R7856:Rars	UTSW	11	35808585	missense	probably benign	0.09
R8029:Rars	UTSW	11	35821165	missense	probably damaging	1.00
R9094:Rars	UTSW	11	35827355	splice site	probably benign
R9096:Rars	UTSW	11	35827429	missense	probably benign	0.00
R9300:Rars	UTSW	11	35815661	missense	probably damaging	1.00
Z1177:Rars	UTSW	11	35826109	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTTAGGATCCCTGCCAAACAC -3'
(R):5'- CCCCAAATGCCTATAGGTTGC -3'

Sequencing Primer
(F):5'- ACACGCTCTCCAACTCTGATG -3'
(R):5'- ATGCCTATAGGTTGCTATCTTTTCAG -3'

Posted On

2018-10-18