Mutagenetix > Incidental Mutation

Incidental Mutation 'R0383:Tars'

31121

Institutional Source

Beutler Lab

Gene Symbol

Tars

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase

Synonyms

D15Wsu59e, ThrRS

MMRRC Submission

038589-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11382301-11399665 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11390325 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 356 (M356T)

Ref Sequence

ENSEMBL: ENSMUSP00000022849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022849] [ENSMUST00000228814]

AlphaFold

Q9D0R2

Predicted Effect

probably benign
Transcript: ENSMUST00000022849
AA Change: M356T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: M356T

Domain	Start	End	E-Value	Type
low complexity region	21	45	N/A	INTRINSIC
Pfam:TGS	82	142	7.5e-18	PFAM
tRNA_SAD	248	297	1.91e-16	SMART
Pfam:tRNA-synt_2b	396	607	5e-38	PFAM
Pfam:HGTP_anticodon	619	710	6.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228710

Predicted Effect

probably benign
Transcript: ENSMUST00000228814

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

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. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,239,539	M537V	probably benign	Het
5730455P16Rik	G	T	11: 80,363,941	Y351*	probably null	Het
A530099J19Rik	A	G	13: 19,729,147		noncoding transcript	Het
Aadac	G	T	3: 60,035,947	R91L	possibly damaging	Het
Adgrg1	T	A	8: 95,011,742	F621Y	probably damaging	Het
Ankmy1	G	T	1: 92,885,053	D511E	probably benign	Het
Anks4b	A	T	7: 120,182,874	D376V	probably damaging	Het
Aox1	G	T	1: 58,061,241	C399F	probably benign	Het
Arfgef1	C	T	1: 10,198,842		probably null	Het
Arhgef4	G	A	1: 34,810,533	V546M	probably damaging	Het
Cab39	T	A	1: 85,837,299	V98E	probably damaging	Het
Cacna1b	T	C	2: 24,761,844	N108D	probably damaging	Het
Car15	C	A	16: 17,836,753	E134*	probably null	Het
Ccdc80	T	G	16: 45,095,369	Y163D	probably damaging	Het
Col22a1	C	T	15: 71,869,004	G513D	unknown	Het
Col8a1	T	C	16: 57,632,442	D66G	probably damaging	Het
Crot	C	A	5: 8,968,734	S544I	probably damaging	Het
Cubn	G	T	2: 13,430,959	P1062Q	probably damaging	Het
Dcc	A	T	18: 71,420,263	V774E	probably damaging	Het
Dlgap5	T	A	14: 47,410,361	M240L	probably benign	Het
Dlx4	A	G	11: 95,145,435	V16A	probably benign	Het
Dnah17	G	T	11: 118,067,547	H2703Q	probably benign	Het
Duox2	A	G	2: 122,291,810		probably null	Het
Fn1	C	T	1: 71,597,685	V168I	probably damaging	Het
Fpr-rs4	A	T	17: 18,022,097	D122V	probably damaging	Het
Gas2l2	A	T	11: 83,423,097	I463N	probably benign	Het
Ggta1	G	T	2: 35,402,404	P297Q	probably damaging	Het
Gpatch3	C	A	4: 133,578,146	R231S	probably damaging	Het
Gpc1	T	C	1: 92,854,983	Y151H	probably damaging	Het
Gtf2e2	T	C	8: 33,755,945	W119R	probably damaging	Het
H2-M10.2	T	C	17: 36,284,361	I304V	probably benign	Het
Helq	T	C	5: 100,779,165	K685R	probably benign	Het
Hps5	C	T	7: 46,769,288		probably null	Het
Iars	T	C	13: 49,732,342	C1186R	probably damaging	Het
Ift43	T	C	12: 86,162,021	V158A	possibly damaging	Het
Iqca	A	T	1: 90,142,707	I141N	probably damaging	Het
Kat6b	A	G	14: 21,669,081	N1276S	probably benign	Het
Kif19a	A	T	11: 114,765,514	M1L	possibly damaging	Het
Kif1b	T	G	4: 149,202,512	H1241P	probably damaging	Het
Kif26a	T	C	12: 112,178,076	V1588A	possibly damaging	Het
Klb	T	A	5: 65,372,499		probably null	Het
Krtap26-1	A	T	16: 88,647,243	Y163*	probably null	Het
Lefty1	G	T	1: 180,937,634	E256*	probably null	Het
Lox	T	C	18: 52,529,199	N44S	possibly damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mctp1	A	G	13: 76,801,544	Y565C	probably damaging	Het
Megf6	C	T	4: 154,265,326	A961V	probably benign	Het
Mindy4	A	G	6: 55,276,634	K496R	probably benign	Het
Nalcn	A	T	14: 123,507,559	H352Q	probably benign	Het
Ncoa5	T	C	2: 165,009,390	I188V	possibly damaging	Het
Notum	G	T	11: 120,654,456	H426N	probably benign	Het
Olfr569	T	A	7: 102,887,251	I301F	possibly damaging	Het
Orm2	A	T	4: 63,363,996	D137V	probably damaging	Het
Pabpc2	G	A	18: 39,775,395	G571D	probably damaging	Het
Pabpc4	A	G	4: 123,297,942	N599S	probably damaging	Het
Pak1ip1	T	C	13: 41,012,604	V335A	probably benign	Het
Pcdhb11	A	C	18: 37,423,393	D592A	probably damaging	Het
Pmch	C	A	10: 88,091,258	T41K	possibly damaging	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Pter	G	T	2: 13,000,942	G309*	probably null	Het
Ptprg	T	C	14: 12,219,024	V406A	possibly damaging	Het
Ranbp3l	A	T	15: 9,063,104	E467V	possibly damaging	Het
Rif1	T	A	2: 52,085,141	M354K	probably damaging	Het
Ripk4	C	T	16: 97,748,112	C248Y	probably damaging	Het
Slc6a15	T	C	10: 103,418,053	W617R	probably damaging	Het
Smyd5	C	T	6: 85,440,173	Q178*	probably null	Het
St18	T	A	1: 6,803,024	F328I	probably damaging	Het
Supt20	T	A	3: 54,703,149	L124*	probably null	Het
Tarbp1	T	A	8: 126,447,484	H861L	probably benign	Het
Tbc1d10a	A	G	11: 4,212,819	T221A	probably damaging	Het
Tead3	A	G	17: 28,334,698		probably null	Het
Tprg	A	G	16: 25,422,235	T254A	probably damaging	Het
Trank1	C	A	9: 111,391,477	N2427K	probably benign	Het
Ttc30b	A	G	2: 75,938,242	Y56H	probably damaging	Het
Tufm	T	C	7: 126,489,864	S380P	probably damaging	Het
Tyrobp	C	T	7: 30,414,617	R68C	probably damaging	Het
Ubl4b	T	C	3: 107,554,827	E39G	possibly damaging	Het
Uggt2	A	T	14: 119,049,451	F661I	probably damaging	Het
Upf3b	A	G	X: 37,104,467	I144T	probably benign	Het
Usp54	A	T	14: 20,561,252	D1165E	probably benign	Het
Vmn2r81	C	T	10: 79,293,447	T724I	possibly damaging	Het
Vsig1	A	G	X: 140,936,313	I247M	possibly damaging	Het
Zfp110	C	A	7: 12,849,260	L612I	probably benign	Het
Zfp318	C	A	17: 46,413,296	T2075K	probably damaging	Het
Zfp37	A	G	4: 62,191,885	M1T	probably null	Het
Zfp605	T	A	5: 110,128,854	C613S	probably damaging	Het
Zfp729a	G	A	13: 67,621,673	P146S	possibly damaging	Het
Zfp85	T	C	13: 67,748,672	N427S	probably benign	Het

Other mutations in Tars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Tars	APN	15	11388221	splice site	probably null
IGL00642:Tars	APN	15	11394372	missense	probably damaging	1.00
IGL01315:Tars	APN	15	11389734	nonsense	probably null
IGL01459:Tars	APN	15	11391854	missense	possibly damaging	0.76
IGL02141:Tars	APN	15	11391194	missense	probably damaging	0.96
IGL03292:Tars	APN	15	11384021	missense	probably benign	0.22
R0517:Tars	UTSW	15	11394366	nonsense	probably null
R0685:Tars	UTSW	15	11385173	missense	probably benign
R1589:Tars	UTSW	15	11388175	missense	probably benign	0.32
R1753:Tars	UTSW	15	11394243	nonsense	probably null
R2051:Tars	UTSW	15	11393194	nonsense	probably null
R2060:Tars	UTSW	15	11394373	missense	probably benign	0.03
R2216:Tars	UTSW	15	11389708	missense	probably benign	0.00
R3610:Tars	UTSW	15	11392904	missense	probably damaging	0.99
R4656:Tars	UTSW	15	11394264	missense	probably damaging	1.00
R4844:Tars	UTSW	15	11385195	missense	possibly damaging	0.85
R4974:Tars	UTSW	15	11390391	missense	probably damaging	1.00
R5551:Tars	UTSW	15	11391982	missense	probably damaging	0.97
R5992:Tars	UTSW	15	11397196	missense	probably damaging	1.00
R6742:Tars	UTSW	15	11394341	missense	probably damaging	0.98
R6778:Tars	UTSW	15	11389699	missense	probably benign	0.06
R6850:Tars	UTSW	15	11392799	missense	probably benign
R7270:Tars	UTSW	15	11392019	missense	probably benign	0.00
R7401:Tars	UTSW	15	11392009	nonsense	probably null
R7743:Tars	UTSW	15	11399372	splice site	probably null
R8062:Tars	UTSW	15	11388314	missense	possibly damaging	0.78
R8852:Tars	UTSW	15	11393262	missense	probably benign	0.02
R8942:Tars	UTSW	15	11384097	missense	probably benign	0.27
R9205:Tars	UTSW	15	11397179	critical splice donor site	probably null
R9362:Tars	UTSW	15	11387530	missense	probably damaging	1.00
R9668:Tars	UTSW	15	11394360	nonsense	probably null
Z1088:Tars	UTSW	15	11391884	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- ACGGCTCCCAGTACAGAAGCATAG -3'
(R):5'- GTTCCCCAAGGACTTTAGCCACTC -3'

Sequencing Primer
(F):5'- gcagcagtcactcacaacc -3'
(R):5'- ACTGACACACTTGAAGTCTGG -3'

Posted On

2013-04-24