Mutagenetix > Incidental Mutations

Incidental Mutation 'R5208:Tars2'

402140

Institutional Source

Beutler Lab

Gene Symbol

Tars2

Ensembl Gene

ENSMUSG00000028107

Gene Name

threonyl-tRNA synthetase 2, mitochondrial (putative)

Synonyms

Tarsl1, 2610024N01Rik

MMRRC Submission

042783-MU

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: 0.966) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95739976-95760206 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95747593 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 128 (W128R)

Ref Sequence

ENSEMBL: ENSMUSP00000143271 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029752
AA Change: W367R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: W367R

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 damaging
Transcript: ENSMUST00000074339
AA Change: W367R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: W367R

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 damaging
Transcript: ENSMUST00000163530
AA Change: W286R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: W286R

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 damaging
Transcript: ENSMUST00000195929
AA Change: W79R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143757
Gene: ENSMUSG00000028107
AA Change: W79R

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

noncoding transcript
Transcript: ENSMUST00000197389

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 damaging
Transcript: ENSMUST00000198289
AA Change: W128R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143271
Gene: ENSMUSG00000028107
AA Change: W128R

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

noncoding transcript
Transcript: ENSMUST00000199869

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

probably benign
Transcript: ENSMUST00000199464

SMART Domains

Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	C	A	7: 140,298,036	A977D	probably benign	Het
Aadacl4	A	T	4: 144,617,828	N58I	probably benign	Het
Adgra3	T	C	5: 50,011,515	D163G	probably damaging	Het
Alcam	C	A	16: 52,295,048	E236*	probably null	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,642,026		probably null	Het
Arl4a	A	T	12: 40,036,745	M1K	probably null	Het
Asic4	A	G	1: 75,451,226	D132G	probably damaging	Het
Bbs12	T	C	3: 37,320,273	I290T	probably benign	Het
BC024139	A	G	15: 76,124,665	S290P	probably benign	Het
Bmp6	G	A	13: 38,469,697	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,769,433		probably null	Het
Cdc42bpg	G	A	19: 6,321,720	R1343K	probably benign	Het
Cdk18	A	T	1: 132,117,480		probably null	Het
Cenpf	A	T	1: 189,671,046		probably null	Het
Cfhr1	A	T	1: 139,556,330		probably null	Het
Chn2	A	T	6: 54,295,801	I201F	probably damaging	Het
Chrdl2	A	G	7: 100,023,922	D175G	probably damaging	Het
Disp2	G	T	2: 118,791,805	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnah3	C	G	7: 120,032,638	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,802,423	Y372*	probably null	Het
Eftud2	G	A	11: 102,841,185	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,801,533	S1170A	probably benign	Het
Gdpd4	A	C	7: 98,014,911	K572Q	probably benign	Het
Gm7356	T	C	17: 14,001,194	E191G	probably damaging	Het
Gm8674	A	T	13: 49,901,921		noncoding transcript	Het
Gulp1	T	G	1: 44,781,039	H235Q	probably benign	Het
Hormad1	T	C	3: 95,578,107	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,751,317	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,927,701	Y194F	possibly damaging	Het
Lars	A	C	18: 42,217,557	S896A	probably benign	Het
Lonp1	A	G	17: 56,617,793	V538A	probably damaging	Het
Map3k14	A	T	11: 103,239,146	L315Q	probably damaging	Het
Met	T	A	6: 17,526,423	Y500*	probably null	Het
Mga	T	G	2: 119,947,981	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,455,881	I152L	probably benign	Het
Mthfsd	G	A	8: 121,108,319		probably benign	Het
Mup4	A	G	4: 59,958,119	F150L	probably damaging	Het
Mybph	T	A	1: 134,193,535	V11D	probably benign	Het
Olfr1278	A	T	2: 111,292,601	E111V	probably damaging	Het
Olfr668	A	G	7: 104,925,726	F13L	probably benign	Het
Olfr988	T	A	2: 85,353,798	I43F	probably benign	Het
Pde4a	T	C	9: 21,203,558		probably null	Het
Pex2	C	T	3: 5,561,368	R127H	probably benign	Het
Pgap3	A	G	11: 98,398,048	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,018,484	V14A	probably benign	Het
Psg25	A	T	7: 18,526,535	I146N	probably benign	Het
Ptprn2	A	G	12: 116,858,928	Y209C	probably damaging	Het
Sema4c	T	A	1: 36,550,326	D573V	probably damaging	Het
Setx	A	T	2: 29,166,367	I2192F	possibly damaging	Het
Sp4	A	G	12: 118,299,546	L255P	probably damaging	Het
Spaca7	A	G	8: 12,586,456	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,746,595	I390L	possibly damaging	Het
Tll1	G	A	8: 64,051,493	T623M	probably damaging	Het
Tmem129	A	T	5: 33,655,506	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,994,153	I73F	probably benign	Het
Tnks1bp1	T	C	2: 85,070,632	M1561T	probably damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Zfat	A	T	15: 68,180,721	I401N	probably damaging	Het
Zfp142	A	T	1: 74,570,868	V1153E	probably benign	Het
Zwilch	T	C	9: 64,152,923	I354V	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
IGL03286:Tars2	APN	3	95754755	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
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

Predicted Primers

PCR Primer
(F):5'- ACTTTACATTTGGTGACCGTATCC -3'
(R):5'- CTAGGGAGTTGGTCAGCATG -3'

Sequencing Primer
(F):5'- ATTTGGTGACCGTATCCCAGCC -3'
(R):5'- GTTGGTCAGCATGGTATTTAAAAGC -3'

Posted On

2016-07-22