Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Tars2'

415750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tars2

Ensembl Gene

ENSMUSG00000028107

Gene Name

threonyl-tRNA synthetase 2, mitochondrial (putative)

Synonyms

Tarsl1, 2610024N01Rik

Accession Numbers

Genbank: NM_027931.3, NM_001163617.1, NM_001163618.1, NM_001163619.1; Ensembl: ENSMUST00000029752, ENSMUST00000074339 , ENSMUST00000098857, ENSMUST00000163530

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

95739976-95760206 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 95754755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000074339] [ENSMUST00000098857] [ENSMUST00000163530] [ENSMUST00000195929] [ENSMUST00000196077] [ENSMUST00000196868] [ENSMUST00000197501] [ENSMUST00000197720] [ENSMUST00000199464] [ENSMUST00000198289] [ENSMUST00000199570]

AlphaFold

Q3UQ84

Predicted Effect

probably benign
Transcript: ENSMUST00000029752

SMART Domains

Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	5.6e-14	PFAM
tRNA_SAD	233	282	1.15e-10	SMART
Pfam:tRNA-synt_2b	400	608	2.4e-32	PFAM
Pfam:HGTP_anticodon	620	711	1.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074339

SMART Domains

Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	1.3e-15	PFAM
tRNA_SAD	233	282	1.15e-10	SMART
Pfam:tRNA-synt_2b	336	519	2.8e-39	PFAM
Pfam:HGTP_anticodon	594	685	5.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098857

SMART Domains

Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	6.7e-16	PFAM
tRNA_SAD	233	282	1.15e-10	SMART
SCOP:d1atia2	332	417	2e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163530

SMART Domains

Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	2.6e-15	PFAM
tRNA_SAD	152	201	1.15e-10	SMART
Pfam:tRNA-synt_2b	255	438	8.6e-40	PFAM
Pfam:HGTP_anticodon	539	630	1.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195929

SMART Domains

Protein: ENSMUSP00000143757
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:tRNA_SAD	1	28	3.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196077

SMART Domains

Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	65	125	5e-13	PFAM
tRNA_SAD	232	264	7.5e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196475

Predicted Effect

probably benign
Transcript: ENSMUST00000196868

Predicted Effect

probably benign
Transcript: ENSMUST00000197501

Predicted Effect

probably benign
Transcript: ENSMUST00000197720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198194

Predicted Effect

probably benign
Transcript: ENSMUST00000199464

SMART Domains

Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	1.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198289

SMART Domains

Protein: ENSMUSP00000143271
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
tRNA_SAD	2	43	2.6e-8	SMART
Pfam:tRNA-synt_2b	97	142	6.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199570

SMART Domains

Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	1.5e-13	PFAM
tRNA_SAD	152	201	8.5e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199869

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

Allele List at MGI

All alleles(20) : Targeted, other(2) Gene trapped(18)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	probably benign	Het

Other mutations in Tars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01604:Tars2	APN	3	95740278	missense	probably damaging	1.00
IGL02523:Tars2	APN	3	95741393	missense	probably damaging	1.00
IGL02709:Tars2	APN	3	95742071	splice site	probably benign
IGL03348:Tars2	APN	3	95740268	splice site	probably null
B6584:Tars2	UTSW	3	95742150	splice site	probably null
R0548:Tars2	UTSW	3	95742659	missense	probably damaging	1.00
R0657:Tars2	UTSW	3	95748557	missense	probably benign	0.00
R1955:Tars2	UTSW	3	95747454	missense	probably damaging	1.00
R2070:Tars2	UTSW	3	95747638	missense	probably damaging	1.00
R2071:Tars2	UTSW	3	95747638	missense	probably damaging	1.00
R3025:Tars2	UTSW	3	95747640	missense	possibly damaging	0.71
R3962:Tars2	UTSW	3	95754756	critical splice donor site	probably null
R4676:Tars2	UTSW	3	95753091	missense	probably damaging	1.00
R4775:Tars2	UTSW	3	95746647	missense	probably damaging	1.00
R5208:Tars2	UTSW	3	95747593	missense	probably damaging	1.00
R5512:Tars2	UTSW	3	95750416	missense	probably damaging	1.00
R5894:Tars2	UTSW	3	95747652	splice site	probably null
R5965:Tars2	UTSW	3	95748152	splice site	probably null
R6381:Tars2	UTSW	3	95754487	nonsense	probably null
R6953:Tars2	UTSW	3	95753114	missense	possibly damaging	0.63
R7042:Tars2	UTSW	3	95750745	missense	probably benign	0.00
R7648:Tars2	UTSW	3	95750982	missense	probably benign	0.26
R7877:Tars2	UTSW	3	95746089	missense	probably damaging	0.99
R7946:Tars2	UTSW	3	95750381	missense	probably damaging	0.99
R8021:Tars2	UTSW	3	95747514	missense	probably benign
R8260:Tars2	UTSW	3	95754820	missense	probably damaging	0.99
R8310:Tars2	UTSW	3	95750959	missense	probably benign	0.02
R8681:Tars2	UTSW	3	95750887	nonsense	probably null
R8697:Tars2	UTSW	3	95746062	missense	possibly damaging	0.75
R8756:Tars2	UTSW	3	95741360	missense	probably benign	0.32

Posted On

2016-08-02