Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Tars'

48248

Institutional Source

Beutler Lab

Gene Symbol

Tars

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase

Synonyms

D15Wsu59e, ThrRS

MMRRC Submission

038710-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R0517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11382301-11399665 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 11394366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 62 (K62*)

Ref Sequence

ENSEMBL: ENSMUSP00000153826 (fasta)

Gene Model

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

AlphaFold

Q9D0R2

Predicted Effect

probably null
Transcript: ENSMUST00000022849
AA Change: K62*

SMART Domains

Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: K62*

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: ENSMUST00000228207

Predicted Effect

probably null
Transcript: ENSMUST00000228814
AA Change: K62*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 36,981,132		probably benign	Het
Acer1	T	C	17: 56,955,569	T194A	probably benign	Het
Adamts1	C	A	16: 85,800,353	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,199,858	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,491,297	S373T	probably damaging	Het
Armc4	A	C	18: 7,223,621	L474R	probably damaging	Het
Asic5	A	T	3: 82,009,526	I266F	probably benign	Het
Cacna1d	A	T	14: 30,179,275	I274K	probably damaging	Het
Camsap2	G	T	1: 136,293,388	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,673,520	L24*	probably null	Het
Cerk	G	A	15: 86,156,648	T170I	probably damaging	Het
Cyp27b1	T	C	10: 127,050,116		probably null	Het
Cyp2c65	T	C	19: 39,082,348		probably benign	Het
Dennd5a	A	G	7: 109,934,761	S75P	probably damaging	Het
Dhx9	C	T	1: 153,478,916	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,778,066	D171G	probably damaging	Het
Dsg3	A	G	18: 20,529,025	N449S	probably benign	Het
Eps8l3	T	C	3: 107,883,460	S189P	probably benign	Het
Exph5	A	G	9: 53,372,762	E381G	probably benign	Het
Fam208b	T	A	13: 3,566,964	T2367S	possibly damaging	Het
Fbxo46	A	G	7: 19,136,874	M473V	possibly damaging	Het
Fgf14	G	A	14: 123,983,784	P203S	probably damaging	Het
Foxf2	C	T	13: 31,626,243	A55V	unknown	Het
Galnt5	T	G	2: 58,035,373		probably benign	Het
Glis2	T	C	16: 4,611,552	L181P	probably damaging	Het
Gm1000	T	G	12: 104,476,408		probably benign	Het
Helz2	A	G	2: 181,227,770	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,853	N262D	probably benign	Het
Lgr4	T	C	2: 110,011,320	L526P	probably damaging	Het
Mapk1	A	T	16: 17,016,046	I88F	probably benign	Het
Mpg	A	T	11: 32,231,853	H287L	probably benign	Het
Mpp4	A	T	1: 59,124,727	Y489*	probably null	Het
Mpzl1	T	C	1: 165,601,790	E224G	probably damaging	Het
Myh10	A	G	11: 68,811,599		probably null	Het
Olfr1034	T	C	2: 86,047,204	S241P	probably damaging	Het
Olfr1340	T	A	4: 118,726,634	I129K	probably damaging	Het
Paip1	T	A	13: 119,447,790	F196I	probably damaging	Het
Pde3a	A	T	6: 141,498,657	K1064*	probably null	Het
Pira2	A	T	7: 3,844,197		probably benign	Het
Pros1	A	G	16: 62,903,518	S210G	probably benign	Het
Rbm15	A	T	3: 107,331,369	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,302,407	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Serpina1e	G	A	12: 103,949,227	T240I	probably benign	Het
Setx	T	G	2: 29,157,133	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,867,651	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366	V300A	probably damaging	Het
Spata46	A	G	1: 170,311,609	Y59C	probably damaging	Het
Supt3	T	C	17: 45,119,271	F404L	probably benign	Het
Tas2r139	A	C	6: 42,141,491	T186P	probably damaging	Het
Tc2n	C	T	12: 101,649,195	S457N	probably damaging	Het
Tox4	A	T	14: 52,292,628	S582C	probably benign	Het
Trappc12	T	C	12: 28,697,134		probably benign	Het
Ubqlnl	G	T	7: 104,148,638	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,392,124	T205A	probably benign	Het
Urb1	G	A	16: 90,777,422	Q924*	probably null	Het
Vmn1r49	A	G	6: 90,072,738	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,508,949	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,570,319		probably benign	Het

Other mutations in Tars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Tars	APN	15	11388221	splice site	probably null
IGL00642:Tars	APN	15	11394372	missense	probably damaging	1.00
IGL01315:Tars	APN	15	11389734	nonsense	probably null
IGL01459:Tars	APN	15	11391854	missense	possibly damaging	0.76
IGL02141:Tars	APN	15	11391194	missense	probably damaging	0.96
IGL03292:Tars	APN	15	11384021	missense	probably benign	0.22
R0383:Tars	UTSW	15	11390325	missense	probably benign
R0685:Tars	UTSW	15	11385173	missense	probably benign
R1589:Tars	UTSW	15	11388175	missense	probably benign	0.32
R1753:Tars	UTSW	15	11394243	nonsense	probably null
R2051:Tars	UTSW	15	11393194	nonsense	probably null
R2060:Tars	UTSW	15	11394373	missense	probably benign	0.03
R2216:Tars	UTSW	15	11389708	missense	probably benign	0.00
R3610:Tars	UTSW	15	11392904	missense	probably damaging	0.99
R4656:Tars	UTSW	15	11394264	missense	probably damaging	1.00
R4844:Tars	UTSW	15	11385195	missense	possibly damaging	0.85
R4974:Tars	UTSW	15	11390391	missense	probably damaging	1.00
R5551:Tars	UTSW	15	11391982	missense	probably damaging	0.97
R5992:Tars	UTSW	15	11397196	missense	probably damaging	1.00
R6742:Tars	UTSW	15	11394341	missense	probably damaging	0.98
R6778:Tars	UTSW	15	11389699	missense	probably benign	0.06
R6850:Tars	UTSW	15	11392799	missense	probably benign
R7270:Tars	UTSW	15	11392019	missense	probably benign	0.00
R7401:Tars	UTSW	15	11392009	nonsense	probably null
R7743:Tars	UTSW	15	11399372	splice site	probably null
R8062:Tars	UTSW	15	11388314	missense	possibly damaging	0.78
R8852:Tars	UTSW	15	11393262	missense	probably benign	0.02
R8942:Tars	UTSW	15	11384097	missense	probably benign	0.27
R9205:Tars	UTSW	15	11397179	critical splice donor site	probably null
R9362:Tars	UTSW	15	11387530	missense	probably damaging	1.00
R9668:Tars	UTSW	15	11394360	nonsense	probably null
Z1088:Tars	UTSW	15	11391884	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- CCTCCTAAGAGAAAAGCGAGGTGTG -3'
(R):5'- TGCCAGTGACCATTGTGATCTGTG -3'

Sequencing Primer
(F):5'- GTGAGTCCTGACCACAAAGTTC -3'
(R):5'- CCATTGTGATCTGTGAAGCAATCTG -3'

Posted On

2013-06-12