Mutagenetix > Incidental Mutation

Incidental Mutation 'R6850:Tars'

535618

Institutional Source

Beutler Lab

Gene Symbol

Tars

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase

Synonyms

D15Wsu59e, ThrRS

MMRRC Submission

044954-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11382301-11399665 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11392799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 187 (Y187F)

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: Y187F

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

SMART Domains

Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: Y187F

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

probably benign
Transcript: ENSMUST00000228814

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (54/55)

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
1700021F05Rik	ACTGCACCACCT	ACT	10: 43,532,725 (GRCm38)		probably benign	Het
4932415D10Rik	A	C	10: 82,293,054 (GRCm38)	M1374R	possibly damaging	Het
Adgb	T	C	10: 10,394,574 (GRCm38)	M927V	probably benign	Het
Agr2	A	G	12: 35,995,559 (GRCm38)	I15V	probably benign	Het
Alpk1	A	G	3: 127,729,363 (GRCm38)	I10T	possibly damaging	Het
Art5	A	G	7: 102,098,095 (GRCm38)	V159A	possibly damaging	Het
Asz1	G	A	6: 18,108,943 (GRCm38)	R32W	probably benign	Het
Atp8b1	A	C	18: 64,556,852 (GRCm38)	M603R	possibly damaging	Het
Cacna1s	G	A	1: 136,092,694 (GRCm38)	R823Q	probably benign	Het
Car9	A	G	4: 43,507,321 (GRCm38)	E3G	probably damaging	Het
Cpne3	A	T	4: 19,535,231 (GRCm38)	I267N	possibly damaging	Het
Cyp2c65	T	A	19: 39,069,091 (GRCm38)	F57I	probably benign	Het
D430041D05Rik	T	C	2: 104,201,259 (GRCm38)	K980R	probably damaging	Het
Dnhd1	G	T	7: 105,719,930 (GRCm38)	G4303W	possibly damaging	Het
Dnmt3a	A	G	12: 3,897,600 (GRCm38)	N485D	probably benign	Het
Dusp4	A	T	8: 34,816,497 (GRCm38)	K166*	probably null	Het
Ect2	T	C	3: 27,138,885 (GRCm38)	D344G	probably damaging	Het
Eif2b1	T	C	5: 124,579,006 (GRCm38)	D3G	probably benign	Het
Ermp1	A	G	19: 29,616,641 (GRCm38)	Y710H	probably damaging	Het
Gar1	T	C	3: 129,829,389 (GRCm38)	N117S	probably damaging	Het
Gm16486	A	T	8: 70,710,776 (GRCm38)	N873Y	probably damaging	Het
Gm35339	A	G	15: 76,357,796 (GRCm38)	Y763C	probably damaging	Het
H2-T10	A	G	17: 36,119,260 (GRCm38)	L263P	probably damaging	Het
Itga7	A	T	10: 128,945,516 (GRCm38)	I621F	probably damaging	Het
Kcna3	A	T	3: 107,037,159 (GRCm38)	D246V	probably damaging	Het
Kctd12	C	T	14: 102,981,978 (GRCm38)	G155S	probably benign	Het
Lrtm1	T	C	14: 29,027,450 (GRCm38)	V256A	probably benign	Het
Mcf2l	T	C	8: 13,009,476 (GRCm38)	F629L	possibly damaging	Het
Mphosph9	A	G	5: 124,260,956 (GRCm38)	F999L	probably damaging	Het
Obscn	C	T	11: 59,068,124 (GRCm38)	V3643M	possibly damaging	Het
Obscn	C	T	11: 59,002,129 (GRCm38)	A6764T	possibly damaging	Het
Olfr1189	T	A	2: 88,592,306 (GRCm38)	C167*	probably null	Het
Olfr1537	T	C	9: 39,237,975 (GRCm38)	I150V	probably benign	Het
Pdhx	T	C	2: 103,041,100 (GRCm38)	H195R	probably damaging	Het
Pdilt	A	T	7: 119,486,959 (GRCm38)	V511E	probably damaging	Het
Prima1	C	T	12: 103,197,335 (GRCm38)	D126N	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061 (GRCm38)		probably benign	Het
Prune2	C	A	19: 17,122,188 (GRCm38)	D1685E	probably benign	Het
Ptgs2	A	T	1: 150,105,540 (GRCm38)	I525F	probably damaging	Het
Rab11fip2	A	T	19: 59,937,009 (GRCm38)	F259I	possibly damaging	Het
Ranbp3l	C	A	15: 9,058,727 (GRCm38)	D216E	probably damaging	Het
Scn5a	A	T	9: 119,501,749 (GRCm38)	L1240Q	possibly damaging	Het
Sohlh2	A	T	3: 55,192,286 (GRCm38)	T160S	probably benign	Het
Sorbs1	G	C	19: 40,376,800 (GRCm38)	R180G	probably benign	Het
Tank	A	G	2: 61,650,002 (GRCm38)	E294G	probably benign	Het
Tas2r144	T	A	6: 42,215,923 (GRCm38)	M199K	possibly damaging	Het
Tdrd3	T	C	14: 87,458,079 (GRCm38)		probably benign	Het
Tecta	T	A	9: 42,343,838 (GRCm38)	D1683V	probably benign	Het
Tln2	A	G	9: 67,258,535 (GRCm38)	I2098T	probably damaging	Het
Tmie	A	G	9: 110,866,912 (GRCm38)	I137T	possibly damaging	Het
Trim45	T	A	3: 100,923,225 (GRCm38)	L105*	probably null	Het
Trpv3	G	A	11: 73,291,693 (GRCm38)	G568S	probably damaging	Het
Wdr75	A	G	1: 45,814,598 (GRCm38)	T390A	probably benign	Het
Zfp35	G	A	18: 24,002,782 (GRCm38)	R61H	possibly damaging	Het

Other mutations in Tars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Tars	APN	15	11,388,221 (GRCm38)	splice site	probably null
IGL00642:Tars	APN	15	11,394,372 (GRCm38)	missense	probably damaging	1.00
IGL01315:Tars	APN	15	11,389,734 (GRCm38)	nonsense	probably null
IGL01459:Tars	APN	15	11,391,854 (GRCm38)	missense	possibly damaging	0.76
IGL02141:Tars	APN	15	11,391,194 (GRCm38)	missense	probably damaging	0.96
IGL03292:Tars	APN	15	11,384,021 (GRCm38)	missense	probably benign	0.22
R0383:Tars	UTSW	15	11,390,325 (GRCm38)	missense	probably benign
R0517:Tars	UTSW	15	11,394,366 (GRCm38)	nonsense	probably null
R0685:Tars	UTSW	15	11,385,173 (GRCm38)	missense	probably benign
R1589:Tars	UTSW	15	11,388,175 (GRCm38)	missense	probably benign	0.32
R1753:Tars	UTSW	15	11,394,243 (GRCm38)	nonsense	probably null
R2051:Tars	UTSW	15	11,393,194 (GRCm38)	nonsense	probably null
R2060:Tars	UTSW	15	11,394,373 (GRCm38)	missense	probably benign	0.03
R2216:Tars	UTSW	15	11,389,708 (GRCm38)	missense	probably benign	0.00
R3610:Tars	UTSW	15	11,392,904 (GRCm38)	missense	probably damaging	0.99
R4656:Tars	UTSW	15	11,394,264 (GRCm38)	missense	probably damaging	1.00
R4844:Tars	UTSW	15	11,385,195 (GRCm38)	missense	possibly damaging	0.85
R4974:Tars	UTSW	15	11,390,391 (GRCm38)	missense	probably damaging	1.00
R5551:Tars	UTSW	15	11,391,982 (GRCm38)	missense	probably damaging	0.97
R5992:Tars	UTSW	15	11,397,196 (GRCm38)	missense	probably damaging	1.00
R6742:Tars	UTSW	15	11,394,341 (GRCm38)	missense	probably damaging	0.98
R6778:Tars	UTSW	15	11,389,699 (GRCm38)	missense	probably benign	0.06
R7270:Tars	UTSW	15	11,392,019 (GRCm38)	missense	probably benign	0.00
R7401:Tars	UTSW	15	11,392,009 (GRCm38)	nonsense	probably null
R7743:Tars	UTSW	15	11,399,372 (GRCm38)	splice site	probably null
R8062:Tars	UTSW	15	11,388,314 (GRCm38)	missense	possibly damaging	0.78
R8852:Tars	UTSW	15	11,393,262 (GRCm38)	missense	probably benign	0.02
R8942:Tars	UTSW	15	11,384,097 (GRCm38)	missense	probably benign	0.27
R9205:Tars	UTSW	15	11,397,179 (GRCm38)	critical splice donor site	probably null
R9362:Tars	UTSW	15	11,387,530 (GRCm38)	missense	probably damaging	1.00
R9668:Tars	UTSW	15	11,394,360 (GRCm38)	nonsense	probably null
Z1088:Tars	UTSW	15	11,391,884 (GRCm38)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- AGAACCTGCTTCGTTTCCCAG -3'
(R):5'- GGCATTGACTCATCACAGATCTG -3'

Sequencing Primer
(F):5'- CCCCGAGTTTTCACTATAGGTAAC -3'
(R):5'- ATCTGCTGAGACTGAAGCTATG -3'

Posted On

2018-09-12