Mutagenetix > Incidental Mutation

Incidental Mutation 'R1534:Wars2'

166810

Institutional Source

Beutler Lab

Gene Symbol

Wars2

Ensembl Gene

ENSMUSG00000004233

Gene Name

tryptophanyl tRNA synthetase 2 (mitochondrial)

Synonyms

TrpRS, 9430020O07Rik

MMRRC Submission

039573-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99047423-99128546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99124177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 346 (A346V)

Ref Sequence

ENSEMBL: ENSMUSP00000004343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004343] [ENSMUST00000135960] [ENSMUST00000145650] [ENSMUST00000198044]

AlphaFold

Q9CYK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000004343
AA Change: A346V

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

SMART Domains

Protein: ENSMUSP00000004343
Gene: ENSMUSG00000004233
AA Change: A346V

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	30	315	2.7e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135960

SMART Domains

Protein: ENSMUSP00000142470
Gene: ENSMUSG00000004233

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	30	175	1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145650

SMART Domains

Protein: ENSMUSP00000142723
Gene: ENSMUSG00000004233

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	30	178	1.7e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198044

SMART Domains

Protein: ENSMUSP00000142361
Gene: ENSMUSG00000004233

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1b	25	92	4.1e-11	PFAM

Meta Mutation Damage Score

0.5747

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (52/53)

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. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit decreased body fat mass, cardiomyopathy, and progressive hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,345,881 (GRCm39)	I310T	probably damaging	Het
Adcy5	T	C	16: 35,073,629 (GRCm39)	V469A	possibly damaging	Het
Agrn	C	T	4: 156,261,141 (GRCm39)	C652Y	probably damaging	Het
Ankfn1	C	T	11: 89,413,977 (GRCm39)	V133M	probably damaging	Het
Ankrd13c	A	G	3: 157,706,757 (GRCm39)	T448A	probably benign	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
B4galt2	T	C	4: 117,734,669 (GRCm39)	H233R	probably damaging	Het
Bpifb5	T	G	2: 154,071,419 (GRCm39)	Y249D	possibly damaging	Het
Brd1	T	C	15: 88,573,866 (GRCm39)	I1078V	possibly damaging	Het
Celsr3	A	G	9: 108,726,083 (GRCm39)	E3104G	probably damaging	Het
Cyp2c69	T	A	19: 39,839,593 (GRCm39)	K343N	probably benign	Het
Cyp4f18	T	A	8: 72,746,799 (GRCm39)	D331V	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,378 (GRCm39)	V261A	possibly damaging	Het
Dchs1	T	C	7: 105,421,247 (GRCm39)	D391G	probably damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,944,238 (GRCm39)	F1044L	probably damaging	Het
Frrs1	A	T	3: 116,672,057 (GRCm39)	T52S	probably benign	Het
Gan	G	A	8: 117,914,168 (GRCm39)	V189I	probably benign	Het
Hnf1b	A	G	11: 83,784,409 (GRCm39)		probably benign	Het
Itgae	T	C	11: 73,036,431 (GRCm39)	I1123T	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lrrc18	A	G	14: 32,730,478 (GRCm39)	K6E	possibly damaging	Het
Map2	G	A	1: 66,452,339 (GRCm39)	V492I	probably benign	Het
Mtr	A	T	13: 12,250,430 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,269,330 (GRCm39)	A689E	possibly damaging	Het
Or52n2c	G	A	7: 104,574,621 (GRCm39)	L117F	possibly damaging	Het
Or5w22	T	A	2: 87,363,016 (GRCm39)	V213D	probably damaging	Het
Palm	T	G	10: 79,652,737 (GRCm39)	V42G	probably damaging	Het
Pcm1	G	A	8: 41,740,738 (GRCm39)	V995I	probably benign	Het
Pfkp	A	G	13: 6,669,574 (GRCm39)	V215A	probably damaging	Het
Prkg2	T	C	5: 99,142,420 (GRCm39)	Y238C	probably damaging	Het
Prr14	C	T	7: 127,073,154 (GRCm39)	A167V	probably benign	Het
Ptprn	A	C	1: 75,234,587 (GRCm39)		probably null	Het
Rexo2	A	T	9: 48,380,190 (GRCm39)	I214N	probably damaging	Het
Rrbp1	A	G	2: 143,830,233 (GRCm39)	S645P	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Satb2	A	T	1: 56,987,392 (GRCm39)	C64*	probably null	Het
Sez6	A	G	11: 77,853,871 (GRCm39)	Y347C	probably damaging	Het
Sos2	A	G	12: 69,663,729 (GRCm39)	I585T	probably damaging	Het
Spg11	G	A	2: 121,922,806 (GRCm39)	T881M	probably damaging	Het
Tiam1	A	T	16: 89,664,396 (GRCm39)		probably null	Het
Tlcd5	A	G	9: 43,022,923 (GRCm39)	W126R	probably damaging	Het
Top1	T	C	2: 160,556,152 (GRCm39)	I537T	probably damaging	Het
Trappc6a	A	G	7: 19,248,138 (GRCm39)	S33G	probably benign	Het
Tspan11	G	C	6: 127,926,768 (GRCm39)	V239L	probably benign	Het
Ubr4	T	C	4: 139,155,462 (GRCm39)	V2190A	possibly damaging	Het
Usp28	A	G	9: 48,896,806 (GRCm39)	D9G	possibly damaging	Het
Uty	A	G	Y: 1,245,440 (GRCm39)	V35A	probably benign	Het
Vmn2r56	A	G	7: 12,427,954 (GRCm39)	S771P	probably benign	Het
Wdr87-ps	G	T	7: 29,229,854 (GRCm39)		noncoding transcript	Het
Zfp142	G	T	1: 74,611,247 (GRCm39)	N849K	probably benign	Het
Zfp180	A	T	7: 23,800,948 (GRCm39)	N66I	probably benign	Het

Other mutations in Wars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
LCD18:Wars2	UTSW	3	99,214,774 (GRCm38)	frame shift	probably null
PIT4449001:Wars2	UTSW	3	99,112,595 (GRCm39)	missense	possibly damaging	0.90
R0511:Wars2	UTSW	3	99,123,865 (GRCm39)	missense	probably damaging	1.00
R0748:Wars2	UTSW	3	99,123,888 (GRCm39)	missense	probably damaging	1.00
R1446:Wars2	UTSW	3	99,094,843 (GRCm39)	missense	probably benign	0.12
R2118:Wars2	UTSW	3	99,123,883 (GRCm39)	missense	probably benign	0.06
R4246:Wars2	UTSW	3	99,123,904 (GRCm39)	missense	probably damaging	0.99
R5069:Wars2	UTSW	3	99,094,849 (GRCm39)	missense	probably damaging	1.00
R5973:Wars2	UTSW	3	99,094,962 (GRCm39)	missense	probably benign
R6518:Wars2	UTSW	3	99,124,116 (GRCm39)	missense	probably benign
R7098:Wars2	UTSW	3	99,123,957 (GRCm39)	missense	probably damaging	1.00
R8010:Wars2	UTSW	3	99,124,146 (GRCm39)	missense	probably benign	0.01
R8247:Wars2	UTSW	3	99,094,965 (GRCm39)	missense	probably benign	0.00
R8794:Wars2	UTSW	3	99,123,888 (GRCm39)	missense	probably damaging	1.00
R9087:Wars2	UTSW	3	99,124,063 (GRCm39)	missense	possibly damaging	0.84
R9341:Wars2	UTSW	3	99,094,846 (GRCm39)	missense	probably benign
R9343:Wars2	UTSW	3	99,094,846 (GRCm39)	missense	probably benign
R9528:Wars2	UTSW	3	99,111,922 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TTCACGTCAGAGGTCACCTACGAG -3'
(R):5'- TGTCATTGAACTGGAGTGGAAGAGC -3'

Sequencing Primer
(F):5'- TTCCAACATGGTGGCGATCC -3'
(R):5'- CTGCCTCAGGGATTGGAAC -3'

Posted On

2014-04-13