Mutagenetix > Incidental Mutation

Incidental Mutation 'R9668:Tars'

727950

Institutional Source

Beutler Lab

Gene Symbol

Tars

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase

Synonyms

D15Wsu59e, ThrRS

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9668 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11382301-11399665 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 11394360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 64 (K64*)

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: K64*

SMART Domains

Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: K64*

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 null
Transcript: ENSMUST00000228814
AA Change: K64*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	G	T	11: 116,198,311	Y60*	probably null	Het
Acp7	T	A	7: 28,615,137		probably null	Het
Adamts17	G	A	7: 67,147,690	V1052I	possibly damaging	Het
Ankrd13b	T	A	11: 77,477,768	E42V	possibly damaging	Het
Ano1	C	A	7: 144,610,842		probably null	Het
Atp5f1	C	T	3: 105,956,040	V27I	probably benign	Het
C2cd2	A	G	16: 97,870,218	S494P	probably damaging	Het
Cd320	G	A	17: 33,846,139	C82Y	probably damaging	Het
Cdc16	T	A	8: 13,767,552	S288T	possibly damaging	Het
Chrne	A	G	11: 70,616,953		probably null	Het
Col12a1	G	A	9: 79,639,678	Q2291*	probably null	Het
Cps1	A	G	1: 67,174,490	S794G	probably benign	Het
Csmd1	A	T	8: 16,211,758	D908E	probably benign	Het
Dpf1	C	T	7: 29,309,659	Q70*	probably null	Het
Fam227a	A	T	15: 79,642,243	N129K	probably benign	Het
Fcho2	T	A	13: 98,777,457	I211F	probably benign	Het
Fezf1	T	C	6: 23,247,575	D167G	probably benign	Het
Flt3	G	A	5: 147,356,884	P461S	probably benign	Het
Fry	G	T	5: 150,358,853	A314S	probably damaging	Het
Gm6309	A	G	5: 146,168,216	S296P	probably benign	Het
Gmppb	T	G	9: 108,051,163	V291G	probably damaging	Het
Hmcn1	G	T	1: 150,743,741	S1207R	probably benign	Het
Iars	C	T	13: 49,687,409	P6L	probably damaging	Het
Kdm5d	T	A	Y: 943,075	S1519R	possibly damaging	Het
Kpna2	G	A	11: 106,990,715	T363I	probably damaging	Het
Lrp1b	A	T	2: 41,185,970	H1886Q		Het
Mettl5	C	T	2: 69,881,379	D48N	probably benign	Het
Mfsd4a	C	T	1: 132,041,890	G442S	probably damaging	Het
Mief2	A	G	11: 60,731,248	T215A	probably damaging	Het
Myt1	C	T	2: 181,810,342	T824I	probably damaging	Het
Naprt	C	A	15: 75,893,432	V148L	possibly damaging	Het
Nckap1l	C	T	15: 103,473,850	R491C	probably damaging	Het
Nr1i2	A	G	16: 38,251,211	M321T	possibly damaging	Het
Nup107	A	T	10: 117,774,478	I355N	possibly damaging	Het
Olfr1253	T	G	2: 89,752,292	I179L	probably benign	Het
Olfr1277	T	G	2: 111,269,942	I142L	probably benign	Het
Olfr248	A	T	1: 174,391,332	N88Y	probably benign	Het
Olfr364-ps1	T	G	2: 37,146,506	M98R	probably damaging	Het
Olfr388-ps1	A	G	11: 73,724,832	I64T	probably benign	Het
Olfr418	G	A	1: 173,270,616	G147D	possibly damaging	Het
Pccb	T	C	9: 100,994,581	D320G	possibly damaging	Het
Pcdhgb6	A	T	18: 37,742,508	I90L	probably benign	Het
Pik3r2	A	G	8: 70,768,815	S682P	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plagl1	A	G	10: 13,128,722	Q578R	unknown	Het
Ppp1r42	A	G	1: 10,003,338	I9T	probably benign	Het
Ptcd3	A	T	6: 71,894,291	I315K	possibly damaging	Het
Rnf217	A	G	10: 31,608,406	L260P	probably damaging	Het
Selp	A	T	1: 164,141,406	H525L	possibly damaging	Het
Sh3rf2	T	A	18: 42,111,282	M303K	probably benign	Het
Shprh	A	T	10: 11,206,332	I1549F	probably damaging	Het
Slc38a7	G	T	8: 95,844,144	A244D	probably benign	Het
Stxbp6	G	T	12: 44,902,957	T63K	probably damaging	Het
Syne3	A	G	12: 104,932,209	S962P	probably damaging	Het
Syt10	T	C	15: 89,826,932	I133V	probably damaging	Het
Tcaf3	A	T	6: 42,589,702	W818R	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tldc1	T	C	8: 119,761,775	E436G	probably damaging	Het
Tmem70	A	C	1: 16,665,435	E43A	probably benign	Het
Trim72	C	A	7: 128,009,920	A298E	probably damaging	Het
Washc5	C	T	15: 59,346,213		probably null	Het
Zfp707	C	A	15: 75,975,236	F378L	possibly damaging	Het
Zfp839	G	A	12: 110,855,846	A365T	probably damaging	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
R0517:Tars	UTSW	15	11394366	nonsense	probably null
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
Z1088:Tars	UTSW	15	11391884	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- AATACTATCAGGATGTGCTGGC -3'
(R):5'- ATGCCAGTGACCATTGTGATC -3'

Sequencing Primer
(F):5'- ATACTATCAGGATGTGCTGGCATGAC -3'
(R):5'- GACCATTGTGATCTGTGAAGCAATC -3'

Posted On

2022-10-06