Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Tars1'

241177

Institutional Source

Beutler Lab

Gene Symbol

Tars1

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase 1

Synonyms

D15Wsu59e, Tars, ThrRS

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11383749-11399744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11389794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 372 (V372A)

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: V372A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: V372A

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 71,922,272 (GRCm39)	P146T	probably damaging	Het
Arnt2	T	A	7: 83,924,559 (GRCm39)	T423S	probably damaging	Het
Bend5	A	G	4: 111,305,787 (GRCm39)	N277S	probably null	Het
Cd22	G	T	7: 30,566,471 (GRCm39)	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,679 (GRCm39)	R115C	probably damaging	Het
Cep85	T	C	4: 133,858,741 (GRCm39)	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,230,003 (GRCm39)	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,020,742 (GRCm39)	V371A	probably benign	Het
Csmd1	T	A	8: 17,077,355 (GRCm39)		probably null	Het
Cyp1a1	T	A	9: 57,609,352 (GRCm39)		probably null	Het
Dennd1c	C	T	17: 57,381,492 (GRCm39)		probably null	Het
Dmxl1	G	A	18: 50,026,990 (GRCm39)	V2033I	probably benign	Het
Dtna	A	G	18: 23,702,622 (GRCm39)	H51R	probably damaging	Het
Dysf	G	A	6: 84,184,227 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,731,720 (GRCm39)	V945E	probably benign	Het
Gpbar1	C	G	1: 74,318,053 (GRCm39)	L99V	probably damaging	Het
Hdac9	A	T	12: 34,479,516 (GRCm39)	D212E	probably damaging	Het
Itga1	A	T	13: 115,133,565 (GRCm39)	D448E	probably benign	Het
Itga2b	T	A	11: 102,358,692 (GRCm39)	N75I	probably benign	Het
Klra7	T	C	6: 130,205,549 (GRCm39)	E117G	probably benign	Het
Kmt2b	G	A	7: 30,273,490 (GRCm39)	R2349C	probably benign	Het
Masp1	T	C	16: 23,310,805 (GRCm39)	N209S	probably benign	Het
Mybpc2	C	T	7: 44,161,924 (GRCm39)		probably null	Het
Myh15	C	G	16: 48,986,201 (GRCm39)	S1557*	probably null	Het
Myo3a	A	C	2: 22,467,783 (GRCm39)	T346P	probably benign	Het
Nim1k	A	G	13: 120,175,751 (GRCm39)	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,802,077 (GRCm39)	R507*	probably null	Het
Or13n4	T	A	7: 106,423,205 (GRCm39)	H176L	probably damaging	Het
Or5e1	C	T	7: 108,354,819 (GRCm39)	T252M	probably damaging	Het
Parp14	T	C	16: 35,677,575 (GRCm39)	I798V	probably benign	Het
Pcnx2	C	T	8: 126,614,816 (GRCm39)	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,437,291 (GRCm39)	H3522L	probably damaging	Het
Pram1	C	T	17: 33,860,258 (GRCm39)	A275V	probably benign	Het
Pramel18	T	A	4: 101,767,257 (GRCm39)	W169R	probably damaging	Het
Prkag1	A	T	15: 98,713,827 (GRCm39)	M1K	probably null	Het
Prss52	T	C	14: 64,351,042 (GRCm39)	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,431,125 (GRCm39)	V284D	probably damaging	Het
Reln	T	C	5: 22,253,003 (GRCm39)	D648G	probably benign	Het
Rnf112	A	G	11: 61,343,105 (GRCm39)	L190P	probably damaging	Het
Scn5a	G	T	9: 119,314,678 (GRCm39)	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,342,151 (GRCm39)	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,663,798 (GRCm39)	H274R	probably benign	Het
Slc5a6	T	G	5: 31,196,679 (GRCm39)	E391D	possibly damaging	Het
Speer2	T	C	16: 69,655,730 (GRCm39)	Q32R	possibly damaging	Het
Thsd7a	A	T	6: 12,337,267 (GRCm39)	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,066,301 (GRCm39)	Y222C	probably benign	Het
Trim40	T	C	17: 37,199,875 (GRCm39)	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,313,226 (GRCm39)	I150V	probably benign	Het
Ube2u	T	C	4: 100,389,365 (GRCm39)	V109A	probably benign	Het
Usp54	A	T	14: 20,611,908 (GRCm39)	D969E	probably benign	Het
Vil1	G	T	1: 74,464,838 (GRCm39)	R495L	probably benign	Het
Wfs1	T	A	5: 37,124,564 (GRCm39)	K700*	probably null	Het
Zcchc8	A	G	5: 123,845,466 (GRCm39)	L298P	probably damaging	Het
Zfp946	A	T	17: 22,673,697 (GRCm39)	Q150H	possibly damaging	Het

Other mutations in Tars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Tars1	APN	15	11,388,307 (GRCm39)	splice site	probably null
IGL00642:Tars1	APN	15	11,394,458 (GRCm39)	missense	probably damaging	1.00
IGL01315:Tars1	APN	15	11,389,820 (GRCm39)	nonsense	probably null
IGL01459:Tars1	APN	15	11,391,940 (GRCm39)	missense	possibly damaging	0.76
IGL02141:Tars1	APN	15	11,391,280 (GRCm39)	missense	probably damaging	0.96
IGL03292:Tars1	APN	15	11,384,107 (GRCm39)	missense	probably benign	0.22
R0383:Tars1	UTSW	15	11,390,411 (GRCm39)	missense	probably benign
R0517:Tars1	UTSW	15	11,394,452 (GRCm39)	nonsense	probably null
R0685:Tars1	UTSW	15	11,385,259 (GRCm39)	missense	probably benign
R1589:Tars1	UTSW	15	11,388,261 (GRCm39)	missense	probably benign	0.32
R1753:Tars1	UTSW	15	11,394,329 (GRCm39)	nonsense	probably null
R2051:Tars1	UTSW	15	11,393,280 (GRCm39)	nonsense	probably null
R2060:Tars1	UTSW	15	11,394,459 (GRCm39)	missense	probably benign	0.03
R3610:Tars1	UTSW	15	11,392,990 (GRCm39)	missense	probably damaging	0.99
R4656:Tars1	UTSW	15	11,394,350 (GRCm39)	missense	probably damaging	1.00
R4844:Tars1	UTSW	15	11,385,281 (GRCm39)	missense	possibly damaging	0.85
R4974:Tars1	UTSW	15	11,390,477 (GRCm39)	missense	probably damaging	1.00
R5551:Tars1	UTSW	15	11,392,068 (GRCm39)	missense	probably damaging	0.97
R5992:Tars1	UTSW	15	11,397,282 (GRCm39)	missense	probably damaging	1.00
R6742:Tars1	UTSW	15	11,394,427 (GRCm39)	missense	probably damaging	0.98
R6778:Tars1	UTSW	15	11,389,785 (GRCm39)	missense	probably benign	0.06
R6850:Tars1	UTSW	15	11,392,885 (GRCm39)	missense	probably benign
R7270:Tars1	UTSW	15	11,392,105 (GRCm39)	missense	probably benign	0.00
R7401:Tars1	UTSW	15	11,392,095 (GRCm39)	nonsense	probably null
R7743:Tars1	UTSW	15	11,399,458 (GRCm39)	splice site	probably null
R8062:Tars1	UTSW	15	11,388,400 (GRCm39)	missense	possibly damaging	0.78
R8852:Tars1	UTSW	15	11,393,348 (GRCm39)	missense	probably benign	0.02
R8942:Tars1	UTSW	15	11,384,183 (GRCm39)	missense	probably benign	0.27
R9205:Tars1	UTSW	15	11,397,265 (GRCm39)	critical splice donor site	probably null
R9362:Tars1	UTSW	15	11,387,616 (GRCm39)	missense	probably damaging	1.00
R9668:Tars1	UTSW	15	11,394,446 (GRCm39)	nonsense	probably null
Z1088:Tars1	UTSW	15	11,391,970 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- CTTCCCTATCAATGCAGAGCTG -3'
(R):5'- TCCATGAGTTTTGGTGCACC -3'

Sequencing Primer
(F):5'- AGGTTAAGAGCCTTGCTACTC -3'
(R):5'- GTGCACCACCTACAGATGG -3'

Posted On

2014-10-15