Mutagenetix > Incidental Mutation

Incidental Mutation 'R7270:Tars1'

565255

Institutional Source

Beutler Lab

Gene Symbol

Tars1

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase 1

Synonyms

D15Wsu59e, Tars, ThrRS

MMRRC Submission

045390-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11383749-11399744 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11392105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 236 (C236R)

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: C236R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: C236R

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: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,301,245 (GRCm39)	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Aimp1	T	C	3: 132,382,772 (GRCm39)	K44E	probably damaging	Het
Arid1b	T	A	17: 5,046,318 (GRCm39)	Y369N	unknown	Het
Art5	A	T	7: 101,747,080 (GRCm39)	V233D	probably damaging	Het
Baz2b	T	A	2: 59,792,836 (GRCm39)	N431Y	possibly damaging	Het
Bik	T	A	15: 83,428,364 (GRCm39)	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,163,082 (GRCm39)	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,696,676 (GRCm39)	V18M	possibly damaging	Het
Cacna1a	C	A	8: 85,297,866 (GRCm39)	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,603,739 (GRCm39)	V1311A	probably damaging	Het
Cbarp	A	C	10: 79,973,151 (GRCm39)	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2b	A	T	8: 105,564,472 (GRCm39)	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,728,224 (GRCm39)	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,675,320 (GRCm39)	V2867A	probably benign	Het
Col5a1	C	T	2: 27,887,597 (GRCm39)	P956L	unknown	Het
Dcakd	T	G	11: 102,891,032 (GRCm39)	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,000,301 (GRCm39)	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,735,055 (GRCm39)	F29L	probably benign	Het
Dis3l2	A	T	1: 86,918,025 (GRCm39)	D558V	possibly damaging	Het
Dtx3l	T	A	16: 35,754,027 (GRCm39)	D193V	probably damaging	Het
Eif1ad12	T	C	12: 87,541,663 (GRCm39)	L58P	probably damaging	Het
Epha4	G	A	1: 77,376,422 (GRCm39)	R486C	probably damaging	Het
Fam186a	T	C	15: 99,842,033 (GRCm39)	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,490,475 (GRCm39)	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Ftmt	A	G	18: 52,465,091 (GRCm39)	I136V	probably benign	Het
Gm10300	T	C	4: 131,802,167 (GRCm39)	W54R	unknown	Het
Gm10518	C	T	1: 179,630,949 (GRCm39)	P3L	unknown	Het
Grm2	G	A	9: 106,528,257 (GRCm39)	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,525,322 (GRCm39)	M176I	probably benign	Het
Insrr	T	C	3: 87,710,440 (GRCm39)	L382P	probably damaging	Het
Jade2	A	G	11: 51,708,011 (GRCm39)	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,638,472 (GRCm39)	R586H	probably benign	Het
Kdm1a	A	T	4: 136,279,838 (GRCm39)	D721E	probably damaging	Het
Knl1	G	A	2: 118,933,003 (GRCm39)	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,584,644 (GRCm39)	P354S	probably benign	Het
Luzp2	A	G	7: 54,724,774 (GRCm39)	I112V	probably damaging	Het
Mgl2	T	C	11: 70,026,506 (GRCm39)	S105P	probably damaging	Het
Mocs1	T	A	17: 49,756,143 (GRCm39)	M200K	possibly damaging	Het
Oat	T	A	7: 132,168,927 (GRCm39)	I98L	probably benign	Het
Obscn	T	C	11: 58,920,312 (GRCm39)	Y8C		Het
Or5b108	G	A	19: 13,168,768 (GRCm39)	V246I	possibly damaging	Het
Or6c1b	T	G	10: 129,273,319 (GRCm39)	F213V	probably benign	Het
Pde1b	T	A	15: 103,430,082 (GRCm39)	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,157,484 (GRCm39)	I204T	probably damaging	Het
Plcd4	A	G	1: 74,593,838 (GRCm39)	E321G	possibly damaging	Het
Plpp7	C	T	2: 31,985,662 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,566 (GRCm39)	I419T	probably benign	Het
Sec16b	A	T	1: 157,392,032 (GRCm39)	R855W	probably damaging	Het
Sec16b	G	T	1: 157,392,033 (GRCm39)	R855M	probably damaging	Het
Sec31b	T	C	19: 44,511,482 (GRCm39)	T640A	probably benign	Het
Siglec1	T	C	2: 130,923,471 (GRCm39)	T425A	possibly damaging	Het
Sirpd	A	T	3: 15,385,704 (GRCm39)	I66N	probably benign	Het
Skil	T	C	3: 31,151,324 (GRCm39)		probably benign	Het
Slc1a5	G	A	7: 16,519,623 (GRCm39)	V200M	probably damaging	Het
Slc25a12	T	C	2: 71,154,369 (GRCm39)	H139R	probably benign	Het
Slc25a32	A	T	15: 38,961,630 (GRCm39)	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,505,455 (GRCm39)		probably benign	Het
Smap2	C	A	4: 120,829,264 (GRCm39)	M328I	probably benign	Het
Spef2	C	T	15: 9,600,066 (GRCm39)		probably null	Het
Srarp	A	G	4: 141,160,389 (GRCm39)	V148A	possibly damaging	Het
Stard9	T	A	2: 120,464,755 (GRCm39)	Y73*	probably null	Het
Tchh	G	C	3: 93,351,837 (GRCm39)	D426H	unknown	Het
Tnks2	T	C	19: 36,836,545 (GRCm39)	F17S		Het
Ube2g1	T	C	11: 72,553,939 (GRCm39)	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,434,761 (GRCm39)	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,608,002 (GRCm39)	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,260,089 (GRCm39)	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,455,648 (GRCm39)	F242L	probably benign	Het
Zfp526	T	A	7: 24,925,345 (GRCm39)	C535S	probably 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
R6850:Tars1	UTSW	15	11,392,885 (GRCm39)	missense	probably benign
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'- GTGGTCCTCTGTGTACTGACAAG -3'
(R):5'- AGCCCTTCAAGTCGTGTGTC -3'

Sequencing Primer
(F):5'- GTCCTCTGTGTACTGACAAGAAGAC -3'
(R):5'- CAAGTCGTGTGTCAGAGTTTCC -3'

Posted On

2019-06-26