Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Tars'

574195

Institutional Source

Beutler Lab

Gene Symbol

Tars

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase

Synonyms

D15Wsu59e, ThrRS

MMRRC Submission

045483-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11382301-11399665 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 11392009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 239 (L239*)

Ref Sequence

ENSEMBL: ENSMUSP00000022849 (fasta)

Gene Model

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

AlphaFold

Q9D0R2

Predicted Effect

probably null
Transcript: ENSMUST00000022849
AA Change: L239*

SMART Domains

Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: L239*

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	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
R6850:Tars	UTSW	15	11,392,799 (GRCm38)	missense	probably benign
R7270:Tars	UTSW	15	11,392,019 (GRCm38)	missense	probably benign	0.00
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'- TGGTCCTCTGTGTACTGACAAG -3'
(R):5'- CCCTTCAAGTCGTGTGTCAG -3'

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

Posted On

2019-09-13