Mutagenetix > Incidental Mutation

Incidental Mutation 'B6584:Tars2'

631

Institutional Source

Beutler Lab

Gene Symbol

Tars2

Ensembl Gene

ENSMUSG00000028107

Gene Name

threonyl-tRNA synthetase 2, mitochondrial (putative)

Synonyms

Tarsl1, 2610024N01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

B6584 (G3) of strain supermodel

Quality Score

Status

Validated

Chromosome

Chromosomal Location

95647286-95663677 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 95649462 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000029753] [ENSMUST00000074339] [ENSMUST00000098857] [ENSMUST00000117507] [ENSMUST00000123143] [ENSMUST00000128885] [ENSMUST00000199464] [ENSMUST00000163530] [ENSMUST00000153026] [ENSMUST00000196077] [ENSMUST00000147217] [ENSMUST00000137912] [ENSMUST00000131376]

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 null
Transcript: ENSMUST00000029753

SMART Domains

Protein: ENSMUSP00000029753
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	558	N/A	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 null
Transcript: ENSMUST00000117507

SMART Domains

Protein: ENSMUSP00000112665
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	559	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123143

SMART Domains

Protein: ENSMUSP00000120300
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	266	4.4e-132	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000128885

SMART Domains

Protein: ENSMUSP00000120820
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	251	1.5e-135	PFAM

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: 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

noncoding transcript
Transcript: ENSMUST00000199869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200376

Predicted Effect

probably null
Transcript: ENSMUST00000153026

SMART Domains

Protein: ENSMUSP00000114747
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	230	1.3e-100	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

probably null
Transcript: ENSMUST00000147217

SMART Domains

Protein: ENSMUSP00000115524
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	80	5.2e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137912

SMART Domains

Protein: ENSMUSP00000122243
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	140	1.8e-39	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000131376

SMART Domains

Protein: ENSMUSP00000114659
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	295	4.2e-146	PFAM

Coding Region Coverage

1x: 85.5%
3x: 70.0%

Het Detection Efficiency

43.9%

Validation Efficiency

89% (133/150)

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102H20Rik	C	T	17: 3,609,853 (GRCm39)		probably benign	Homo
Acadl	T	A	1: 66,887,632 (GRCm39)		probably benign	Het
Astn2	C	T	4: 65,910,624 (GRCm39)	V403M	probably damaging	Het
Clcc1	C	T	3: 108,580,229 (GRCm39)	T302I	probably damaging	Homo
Hormad1	T	A	3: 95,478,007 (GRCm39)		probably benign	Homo
Resf1	C	T	6: 149,230,844 (GRCm39)	H1297Y	probably damaging	Het
Rnf213	C	T	11: 119,316,895 (GRCm39)	T1007I	probably damaging	Het
Rrh	T	C	3: 129,605,391 (GRCm39)	N239D	probably damaging	Homo
Samd4	A	C	14: 47,253,794 (GRCm39)	H86P	probably damaging	Homo
Slc27a2	T	C	2: 126,403,562 (GRCm39)	L195P	possibly damaging	Het
Srek1ip1	T	C	13: 104,953,882 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,615 (GRCm39)	V521E	probably damaging	Het

Other mutations in Tars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01604:Tars2	APN	3	95,647,590 (GRCm39)	missense	probably damaging	1.00
IGL02523:Tars2	APN	3	95,648,705 (GRCm39)	missense	probably damaging	1.00
IGL02709:Tars2	APN	3	95,649,383 (GRCm39)	splice site	probably benign
IGL03286:Tars2	APN	3	95,662,067 (GRCm39)	splice site	probably benign
IGL03348:Tars2	APN	3	95,647,580 (GRCm39)	splice site	probably null
R0548:Tars2	UTSW	3	95,649,971 (GRCm39)	missense	probably damaging	1.00
R0657:Tars2	UTSW	3	95,655,869 (GRCm39)	missense	probably benign	0.00
R1955:Tars2	UTSW	3	95,654,766 (GRCm39)	missense	probably damaging	1.00
R2070:Tars2	UTSW	3	95,654,950 (GRCm39)	missense	probably damaging	1.00
R2071:Tars2	UTSW	3	95,654,950 (GRCm39)	missense	probably damaging	1.00
R3025:Tars2	UTSW	3	95,654,952 (GRCm39)	missense	possibly damaging	0.71
R3962:Tars2	UTSW	3	95,662,068 (GRCm39)	critical splice donor site	probably null
R4676:Tars2	UTSW	3	95,660,403 (GRCm39)	missense	probably damaging	1.00
R4775:Tars2	UTSW	3	95,653,959 (GRCm39)	missense	probably damaging	1.00
R5208:Tars2	UTSW	3	95,654,905 (GRCm39)	missense	probably damaging	1.00
R5512:Tars2	UTSW	3	95,657,728 (GRCm39)	missense	probably damaging	1.00
R5894:Tars2	UTSW	3	95,654,964 (GRCm39)	splice site	probably null
R5965:Tars2	UTSW	3	95,655,464 (GRCm39)	splice site	probably null
R6381:Tars2	UTSW	3	95,661,799 (GRCm39)	nonsense	probably null
R6953:Tars2	UTSW	3	95,660,426 (GRCm39)	missense	possibly damaging	0.63
R7042:Tars2	UTSW	3	95,658,057 (GRCm39)	missense	probably benign	0.00
R7648:Tars2	UTSW	3	95,658,294 (GRCm39)	missense	probably benign	0.26
R7877:Tars2	UTSW	3	95,653,401 (GRCm39)	missense	probably damaging	0.99
R7946:Tars2	UTSW	3	95,657,693 (GRCm39)	missense	probably damaging	0.99
R8021:Tars2	UTSW	3	95,654,826 (GRCm39)	missense	probably benign
R8260:Tars2	UTSW	3	95,662,132 (GRCm39)	missense	probably damaging	0.99
R8310:Tars2	UTSW	3	95,658,271 (GRCm39)	missense	probably benign	0.02
R8681:Tars2	UTSW	3	95,658,199 (GRCm39)	nonsense	probably null
R8697:Tars2	UTSW	3	95,653,374 (GRCm39)	missense	possibly damaging	0.75
R8756:Tars2	UTSW	3	95,648,672 (GRCm39)	missense	probably benign	0.32
R9498:Tars2	UTSW	3	95,647,553 (GRCm39)	missense	probably damaging	1.00
R9653:Tars2	UTSW	3	95,655,379 (GRCm39)	missense	probably damaging	1.00
R9746:Tars2	UTSW	3	95,662,077 (GRCm39)	missense	probably benign	0.34

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at base pair 95546073 in the Genbank genomic region NC_000079 for the Tars2 gene on chromosome 13 (CTGCCAACAG ->CTGCCAGCAG). Multiple transcripts of the Tars2 gene are displayed on Ensembl. The mutation is located within intron 1 from the ATG exon, four nucleotides to the next exon. The Tars2 gene contains 18 total exons using Genbank record NM_027931.3. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Tars2 gene encodes multiple isoforms of the mitochondrial threonyl-tRNA synthetase. Isoform 1 contains 723 residues. TARS2 is a member of the class II aminoacyl-tRNA synthetase (ARS) protein family. Aminoacyl-tRNA synthetases catalyze the specific attachment of each of the 20 amino acids (aa) to a cognate transfer RNA (tRNA) (Uniprot Q3UQ84).

Posted On

2011-04-13