Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01672:Rars'

103510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rars

Ensembl Gene

ENSMUSG00000018848

Gene Name

arginyl-tRNA synthetase

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL01672

Quality Score

Status

Chromosome

Chromosomal Location

35808381-35834506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35808553 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 638 (C638S)

Ref Sequence

ENSEMBL: ENSMUSP00000018992 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000018992
AA Change: C638S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: C638S

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,641,357	E203G	probably damaging	Het
AI314180	A	G	4: 58,814,041	V1355A	probably benign	Het
Ano1	G	T	7: 144,655,675	Q206K	probably damaging	Het
Ap4e1	T	A	2: 127,052,189	S620T	probably damaging	Het
Arfip1	A	T	3: 84,548,032		probably benign	Het
Atp8a2	A	T	14: 59,691,533	M1024K	probably benign	Het
Brap	T	C	5: 121,678,845		probably benign	Het
Calcrl	T	A	2: 84,345,070	T287S	probably damaging	Het
Clptm1l	G	A	13: 73,607,873		probably null	Het
Cpb1	T	A	3: 20,275,421	Q47L	probably null	Het
Cse1l	T	C	2: 166,929,967	I402T	probably damaging	Het
Dnah17	A	G	11: 118,042,160	S3591P	probably damaging	Het
Dst	T	G	1: 34,225,693	I2322S	probably damaging	Het
Dync2h1	G	A	9: 7,118,884	R2194*	probably null	Het
Eno4	A	G	19: 58,943,545	N30S	possibly damaging	Het
Ero1l	A	C	14: 45,292,430	S349A	probably benign	Het
Fat1	C	T	8: 45,040,700	T3938I	probably benign	Het
Focad	T	C	4: 88,360,590		probably null	Het
Gnai3	A	T	3: 108,109,459	I343N	probably damaging	Het
Golph3	T	C	15: 12,349,557	V221A	probably benign	Het
Gpr153	C	A	4: 152,279,913	S142*	probably null	Het
Itpr1	C	A	6: 108,381,032	Y557*	probably null	Het
Nat8f5	A	G	6: 85,817,952	Y9H	probably damaging	Het
Nbas	T	C	12: 13,379,649	V1045A	possibly damaging	Het
Nol8	T	C	13: 49,675,407	V1047A	possibly damaging	Het
Olfr330	A	C	11: 58,529,122	L288R	probably benign	Het
Olfr491	T	A	7: 108,317,518	V208E	probably benign	Het
Osbpl1a	G	A	18: 12,766,824	T178I	probably damaging	Het
Palld	T	A	8: 61,877,502	I114F	probably benign	Het
Pcca	A	T	14: 122,690,145	Y440F	probably benign	Het
Pclo	T	C	5: 14,678,535		probably benign	Het
Piwil1	T	C	5: 128,749,973	M599T	possibly damaging	Het
Pkd1l2	T	A	8: 117,080,732	Y189F	possibly damaging	Het
Plscr3	A	G	11: 69,847,682	K91R	possibly damaging	Het
Relb	T	A	7: 19,611,694	H406L	probably benign	Het
Ros1	G	T	10: 52,101,803	T1449K	possibly damaging	Het
Samd3	A	T	10: 26,270,169	N364I	possibly damaging	Het
Scn2a	T	A	2: 65,751,934	I1542N	probably damaging	Het
Sdk1	T	A	5: 142,185,175	M1931K	probably benign	Het
Sphk2	T	C	7: 45,711,653	D309G	possibly damaging	Het
Stil	T	C	4: 115,032,789	S825P	probably damaging	Het
Swt1	C	T	1: 151,394,608		probably null	Het
Virma	C	T	4: 11,527,792	R1228C	probably damaging	Het
Xirp2	T	A	2: 67,508,502	H362Q	probably benign	Het
Zfp451	C	A	1: 33,762,166	M1056I	probably benign	Het
Zfp458	T	A	13: 67,257,236	M380L	probably benign	Het

Other mutations in Rars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Rars	APN	11	35825981	splice site	probably benign
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
R6889:Rars	UTSW	11	35808486	missense	probably damaging	1.00
R7260:Rars	UTSW	11	35834454	missense	probably benign	0.00

Posted On

2014-01-21