Mutagenetix > Incidental Mutation

Incidental Mutation 'R6850:Tars1'

535618

Institutional Source

Beutler Lab

Gene Symbol

Tars1

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase 1

Synonyms

D15Wsu59e, Tars, ThrRS

MMRRC Submission

044954-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11383749-11399744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11392885 bp (GRCm39)

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
Adgb	T	C	10: 10,270,318 (GRCm39)	M927V	probably benign	Het
Agr2	A	G	12: 36,045,558 (GRCm39)	I15V	probably benign	Het
Alpk1	A	G	3: 127,523,012 (GRCm39)	I10T	possibly damaging	Het
Art5	A	G	7: 101,747,302 (GRCm39)	V159A	possibly damaging	Het
Asz1	G	A	6: 18,108,942 (GRCm39)	R32W	probably benign	Het
Atp8b1	A	C	18: 64,689,923 (GRCm39)	M603R	possibly damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Car9	A	G	4: 43,507,321 (GRCm39)	E3G	probably damaging	Het
Cpne3	A	T	4: 19,535,231 (GRCm39)	I267N	possibly damaging	Het
Cyp2c65	T	A	19: 39,057,535 (GRCm39)	F57I	probably benign	Het
D430041D05Rik	T	C	2: 104,031,604 (GRCm39)	K980R	probably damaging	Het
Dnhd1	G	T	7: 105,369,137 (GRCm39)	G4303W	possibly damaging	Het
Dnmt3a	A	G	12: 3,947,600 (GRCm39)	N485D	probably benign	Het
Dusp4	A	T	8: 35,283,651 (GRCm39)	K166*	probably null	Het
Ect2	T	C	3: 27,193,034 (GRCm39)	D344G	probably damaging	Het
Eif2b1	T	C	5: 124,717,069 (GRCm39)	D3G	probably benign	Het
Ermp1	A	G	19: 29,594,041 (GRCm39)	Y710H	probably damaging	Het
Gar1	T	C	3: 129,623,038 (GRCm39)	N117S	probably damaging	Het
H2-T10	A	G	17: 36,430,152 (GRCm39)	L263P	probably damaging	Het
Iqcn	A	T	8: 71,163,425 (GRCm39)	N873Y	probably damaging	Het
Itga7	A	T	10: 128,781,385 (GRCm39)	I621F	probably damaging	Het
Kcna3	A	T	3: 106,944,475 (GRCm39)	D246V	probably damaging	Het
Kctd12	C	T	14: 103,219,414 (GRCm39)	G155S	probably benign	Het
Lrtm1	T	C	14: 28,749,407 (GRCm39)	V256A	probably benign	Het
Mcf2l	T	C	8: 13,059,476 (GRCm39)	F629L	possibly damaging	Het
Mphosph9	A	G	5: 124,399,019 (GRCm39)	F999L	probably damaging	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Obscn	C	T	11: 58,958,950 (GRCm39)	V3643M	possibly damaging	Het
Obscn	C	T	11: 58,892,955 (GRCm39)	A6764T	possibly damaging	Het
Or4c102	T	A	2: 88,422,650 (GRCm39)	C167*	probably null	Het
Or8g18	T	C	9: 39,149,271 (GRCm39)	I150V	probably benign	Het
Pdhx	T	C	2: 102,871,445 (GRCm39)	H195R	probably damaging	Het
Pdilt	A	T	7: 119,086,182 (GRCm39)	V511E	probably damaging	Het
Prima1	C	T	12: 103,163,594 (GRCm39)	D126N	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Prune2	C	A	19: 17,099,552 (GRCm39)	D1685E	probably benign	Het
Ptgs2	A	T	1: 149,981,291 (GRCm39)	I525F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,441 (GRCm39)	F259I	possibly damaging	Het
Ranbp3l	C	A	15: 9,058,808 (GRCm39)	D216E	probably damaging	Het
Scn5a	A	T	9: 119,330,815 (GRCm39)	L1240Q	possibly damaging	Het
Sohlh2	A	T	3: 55,099,707 (GRCm39)	T160S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31h1	A	C	10: 82,128,888 (GRCm39)	M1374R	possibly damaging	Het
Tank	A	G	2: 61,480,346 (GRCm39)	E294G	probably benign	Het
Tas2r144	T	A	6: 42,192,857 (GRCm39)	M199K	possibly damaging	Het
Tdrd3	T	C	14: 87,695,515 (GRCm39)		probably benign	Het
Tecta	T	A	9: 42,255,134 (GRCm39)	D1683V	probably benign	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tmie	A	G	9: 110,695,980 (GRCm39)	I137T	possibly damaging	Het
Trim45	T	A	3: 100,830,541 (GRCm39)	L105*	probably null	Het
Trpv3	G	A	11: 73,182,519 (GRCm39)	G568S	probably damaging	Het
Wdr75	A	G	1: 45,853,758 (GRCm39)	T390A	probably benign	Het
Wdr97	A	G	15: 76,241,996 (GRCm39)	Y763C	probably damaging	Het
Zfp35	G	A	18: 24,135,839 (GRCm39)	R61H	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
R2216:Tars1	UTSW	15	11,389,794 (GRCm39)	missense	probably benign	0.00
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
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'- AGAACCTGCTTCGTTTCCCAG -3'
(R):5'- GGCATTGACTCATCACAGATCTG -3'

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

Posted On

2018-09-12