Mutagenetix > Incidental Mutation

Incidental Mutation 'R7682:Rars1'

592834

Institutional Source

Beutler Lab

Gene Symbol

Rars1

Ensembl Gene

ENSMUSG00000018848

Gene Name

arginyl-tRNA synthetase 1

Synonyms

Rars, 2610037E21Rik, 2610011N19Rik

MMRRC Submission

045748-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7682 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35699208-35725333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35719579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 81 (Q81R)

Ref Sequence

ENSEMBL: ENSMUSP00000018992 (fasta)

Gene Model

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

AlphaFold

Q9D0I9

Predicted Effect

probably benign
Transcript: ENSMUST00000018992
AA Change: Q81R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: Q81R

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	A	16: 88,556,373 (GRCm39)	S196T	probably benign	Het
Abcc5	T	C	16: 20,186,803 (GRCm39)	D977G	probably damaging	Het
Acot2	T	C	12: 84,034,698 (GRCm39)	V8A	probably benign	Het
Adamts9	T	A	6: 92,857,679 (GRCm39)	I870F	possibly damaging	Het
Adgrl3	G	A	5: 81,942,407 (GRCm39)	V1414I	probably damaging	Het
Aggf1	T	C	13: 95,504,934 (GRCm39)	K275R	probably benign	Het
Alpk1	T	C	3: 127,466,195 (GRCm39)	I1104V	possibly damaging	Het
Angptl7	A	T	4: 148,582,539 (GRCm39)	I119N	probably damaging	Het
Ank3	A	T	10: 69,824,065 (GRCm39)	E129D	possibly damaging	Het
Brca2	T	A	5: 150,466,618 (GRCm39)	H2127Q	probably benign	Het
Brd4	A	G	17: 32,420,134 (GRCm39)	F1008S	unknown	Het
Car2	T	C	3: 14,953,025 (GRCm39)	S56P	probably damaging	Het
Casp3	A	G	8: 47,085,420 (GRCm39)	Y41C	probably benign	Het
Ces4a	A	T	8: 105,873,297 (GRCm39)	T381S	probably benign	Het
Clstn1	A	G	4: 149,710,558 (GRCm39)	T77A	possibly damaging	Het
Cul7	G	T	17: 46,966,521 (GRCm39)	V615L	probably benign	Het
Dnpep	A	G	1: 75,293,384 (GRCm39)	F24L	probably damaging	Het
Efcab3	T	A	11: 104,855,174 (GRCm39)		probably null	Het
Emsy	G	A	7: 98,239,905 (GRCm39)	R1263W	probably damaging	Het
Fam124b	A	T	1: 80,191,282 (GRCm39)	C34S	possibly damaging	Het
Fan1	C	A	7: 64,022,512 (GRCm39)	G247V	probably benign	Het
Fbxl9	C	A	8: 106,041,916 (GRCm39)	R304L	possibly damaging	Het
Glipr1l3	T	G	10: 111,977,777 (GRCm39)	H218P	probably benign	Het
Gm14305	T	A	2: 176,412,703 (GRCm39)	S198R	probably benign	Het
Gm14326	T	C	2: 177,590,274 (GRCm39)	Y29C	probably damaging	Het
Gm45713	C	T	7: 44,783,426 (GRCm39)	V147I	probably benign	Het
Gpr149	C	T	3: 62,438,160 (GRCm39)	D666N	probably damaging	Het
Gpr183	A	G	14: 122,192,152 (GRCm39)	I123T	possibly damaging	Het
Il7r	A	T	15: 9,513,013 (GRCm39)	H165Q	probably damaging	Het
Krt73	A	G	15: 101,710,480 (GRCm39)	F85L	probably benign	Het
Lrrc8d	A	G	5: 105,960,657 (GRCm39)	T356A	probably damaging	Het
Marco	A	G	1: 120,421,771 (GRCm39)		probably null	Het
Mettl14	T	A	3: 123,177,253 (GRCm39)	E49D	possibly damaging	Het
Mrap	T	A	16: 90,546,110 (GRCm39)		probably null	Het
Mrps34	C	T	17: 25,114,852 (GRCm39)	A152V	probably benign	Het
Nfasc	T	A	1: 132,501,511 (GRCm39)	Y1163F	unknown	Het
Nfic	T	C	10: 81,256,334 (GRCm39)	D110G	probably damaging	Het
Nip7	T	C	8: 107,783,751 (GRCm39)	V28A	possibly damaging	Het
Odam	T	C	5: 88,040,287 (GRCm39)	F251S	possibly damaging	Het
Olfm5	T	A	7: 103,810,979 (GRCm39)	Q53L	probably null	Het
P2ry13	T	G	3: 59,117,545 (GRCm39)	M78L	probably benign	Het
Pacs1	T	C	19: 5,202,727 (GRCm39)	E385G	probably damaging	Het
Pip5k1b	C	T	19: 24,337,343 (GRCm39)	G315D	probably damaging	Het
Pla2g4a	C	A	1: 149,762,022 (GRCm39)	R145L	probably damaging	Het
Pramel26	A	G	4: 143,537,290 (GRCm39)	L347S	probably benign	Het
Rassf7	A	G	7: 140,797,847 (GRCm39)	N296D	probably damaging	Het
Rcsd1	C	T	1: 165,485,262 (GRCm39)	A94T	probably benign	Het
Rgs8	T	C	1: 153,566,668 (GRCm39)	F73S	probably damaging	Het
Rilpl2	A	C	5: 124,616,043 (GRCm39)	Y36D	probably damaging	Het
Rpl10l	A	G	12: 66,331,004 (GRCm39)	V43A	probably benign	Het
Sesn2	T	C	4: 132,224,200 (GRCm39)	I403V	probably damaging	Het
Slc10a4	C	T	5: 73,164,453 (GRCm39)	S15L	unknown	Het
Slc7a5	T	C	8: 122,633,879 (GRCm39)	Y156C	probably damaging	Het
Spata18	A	G	5: 73,826,008 (GRCm39)	H105R		Het
Specc1l	A	G	10: 75,081,636 (GRCm39)	D344G	probably damaging	Het
Syne1	A	G	10: 5,112,461 (GRCm39)	V415A	probably benign	Het
Thbs4	T	G	13: 92,912,070 (GRCm39)	D220A	probably benign	Het
Tmco5	T	C	2: 116,716,752 (GRCm39)	S152P	probably benign	Het
Tmem35b	A	T	4: 127,022,734 (GRCm39)	D125V	probably damaging	Het
Trim17	A	G	11: 58,857,634 (GRCm39)	E155G	possibly damaging	Het
Vmn2r11	A	C	5: 109,195,481 (GRCm39)	V615G	probably benign	Het
Vmn2r88	A	T	14: 51,655,906 (GRCm39)	Q705L		Het
Vmn2r93	A	G	17: 18,525,583 (GRCm39)	R414G	probably benign	Het
Xirp2	T	C	2: 67,339,193 (GRCm39)	L478P	probably damaging	Het

Other mutations in Rars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Rars1	APN	11	35,716,808 (GRCm39)	splice site	probably benign
IGL01672:Rars1	APN	11	35,699,380 (GRCm39)	missense	probably damaging	0.99
IGL01721:Rars1	APN	11	35,719,491 (GRCm39)	missense	probably damaging	1.00
IGL01887:Rars1	APN	11	35,716,822 (GRCm39)	missense	probably benign	0.03
IGL02605:Rars1	APN	11	35,715,353 (GRCm39)	splice site	probably benign
IGL03296:Rars1	APN	11	35,707,523 (GRCm39)	nonsense	probably null
IGL03354:Rars1	APN	11	35,715,302 (GRCm39)	missense	probably damaging	1.00
R0410:Rars1	UTSW	11	35,716,847 (GRCm39)	missense	probably damaging	1.00
R1193:Rars1	UTSW	11	35,700,153 (GRCm39)	missense	possibly damaging	0.92
R1222:Rars1	UTSW	11	35,700,567 (GRCm39)	missense	probably damaging	1.00
R1418:Rars1	UTSW	11	35,700,567 (GRCm39)	missense	probably damaging	1.00
R1562:Rars1	UTSW	11	35,711,921 (GRCm39)	critical splice donor site	probably null
R1768:Rars1	UTSW	11	35,700,465 (GRCm39)	missense	probably damaging	1.00
R1800:Rars1	UTSW	11	35,716,822 (GRCm39)	missense	probably benign	0.03
R2055:Rars1	UTSW	11	35,717,410 (GRCm39)	splice site	probably benign
R2294:Rars1	UTSW	11	35,708,363 (GRCm39)	splice site	probably benign
R4281:Rars1	UTSW	11	35,712,051 (GRCm39)	missense	probably damaging	1.00
R4807:Rars1	UTSW	11	35,699,973 (GRCm39)	missense	possibly damaging	0.81
R4898:Rars1	UTSW	11	35,699,385 (GRCm39)	missense	probably damaging	1.00
R5522:Rars1	UTSW	11	35,708,195 (GRCm39)	nonsense	probably null
R5907:Rars1	UTSW	11	35,719,475 (GRCm39)	missense	probably damaging	1.00
R6243:Rars1	UTSW	11	35,717,374 (GRCm39)	missense	possibly damaging	0.64
R6289:Rars1	UTSW	11	35,716,894 (GRCm39)	missense	probably damaging	1.00
R6550:Rars1	UTSW	11	35,724,010 (GRCm39)	missense	probably benign	0.00
R6889:Rars1	UTSW	11	35,699,313 (GRCm39)	missense	probably damaging	1.00
R7260:Rars1	UTSW	11	35,725,281 (GRCm39)	missense	probably benign	0.00
R7808:Rars1	UTSW	11	35,719,534 (GRCm39)	missense	probably benign
R7822:Rars1	UTSW	11	35,710,793 (GRCm39)	missense	probably damaging	0.99
R7856:Rars1	UTSW	11	35,699,412 (GRCm39)	missense	probably benign	0.09
R8029:Rars1	UTSW	11	35,711,992 (GRCm39)	missense	probably damaging	1.00
R9094:Rars1	UTSW	11	35,718,182 (GRCm39)	splice site	probably benign
R9096:Rars1	UTSW	11	35,718,256 (GRCm39)	missense	probably benign	0.00
R9300:Rars1	UTSW	11	35,706,488 (GRCm39)	missense	probably damaging	1.00
Z1177:Rars1	UTSW	11	35,716,936 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATGTGGAAAGTGACCCTTGTTC -3'
(R):5'- TAGGATCCTGTTCTGTGTCGCC -3'

Sequencing Primer
(F):5'- GGAAAGTGACCCTTGTTCAAAGATAC -3'
(R):5'- GTCGCCACTCCCATCCTGG -3'

Posted On

2019-11-12