Incidental Mutation 'R4246:Wars2'
ID |
320413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wars2
|
Ensembl Gene |
ENSMUSG00000004233 |
Gene Name |
tryptophanyl tRNA synthetase 2 (mitochondrial) |
Synonyms |
TrpRS, 9430020O07Rik |
MMRRC Submission |
041062-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4246 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
99047423-99128546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 99123904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 255
(V255E)
|
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: V255E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000004343 Gene: ENSMUSG00000004233 AA Change: V255E
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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. 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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
Ak1 |
A |
G |
2: 32,523,384 (GRCm39) |
T151A |
possibly damaging |
Het |
Asxl3 |
A |
G |
18: 22,658,557 (GRCm39) |
D2189G |
probably damaging |
Het |
Ccdc91 |
C |
T |
6: 147,493,646 (GRCm39) |
A346V |
unknown |
Het |
Dnah6 |
C |
T |
6: 73,106,431 (GRCm39) |
E1769K |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,750,786 (GRCm39) |
|
probably null |
Het |
Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
Glyatl3 |
T |
A |
17: 41,220,989 (GRCm39) |
D126V |
probably benign |
Het |
Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
Igkv8-21 |
T |
A |
6: 70,292,436 (GRCm39) |
M1L |
possibly damaging |
Het |
Itih4 |
C |
A |
14: 30,613,359 (GRCm39) |
H261N |
probably damaging |
Het |
Jpt1 |
T |
C |
11: 115,405,119 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
Klhl32 |
A |
C |
4: 24,800,822 (GRCm39) |
S3A |
possibly damaging |
Het |
Kmt2d |
C |
T |
15: 98,737,970 (GRCm39) |
|
probably benign |
Het |
Lamtor5 |
T |
C |
3: 107,186,354 (GRCm39) |
V41A |
probably benign |
Het |
Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
Lrfn1 |
G |
T |
7: 28,159,367 (GRCm39) |
V429L |
probably benign |
Het |
Mapkbp1 |
T |
A |
2: 119,843,508 (GRCm39) |
I252N |
probably damaging |
Het |
Nelfa |
A |
G |
5: 34,056,373 (GRCm39) |
F464S |
probably damaging |
Het |
Nipbl |
G |
A |
15: 8,361,916 (GRCm39) |
L1454F |
probably damaging |
Het |
Nr4a3 |
C |
T |
4: 48,083,125 (GRCm39) |
P553S |
possibly damaging |
Het |
Nrg3 |
G |
A |
14: 39,194,198 (GRCm39) |
T187I |
possibly damaging |
Het |
Or5m5 |
T |
A |
2: 85,814,624 (GRCm39) |
C147S |
possibly damaging |
Het |
Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
Pcdha8 |
A |
G |
18: 37,125,950 (GRCm39) |
E144G |
probably damaging |
Het |
Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
Pira1 |
C |
T |
7: 3,740,348 (GRCm39) |
G291E |
probably damaging |
Het |
Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
Ppp1r3a |
T |
A |
6: 14,719,780 (GRCm39) |
E378V |
probably damaging |
Het |
Psd2 |
T |
C |
18: 36,139,172 (GRCm39) |
L540P |
probably damaging |
Het |
Rnf14 |
T |
A |
18: 38,434,701 (GRCm39) |
|
probably null |
Het |
Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sh3d19 |
G |
A |
3: 86,033,995 (GRCm39) |
V783I |
probably benign |
Het |
Snca |
T |
C |
6: 60,710,149 (GRCm39) |
E110G |
possibly damaging |
Het |
Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
Trhr |
A |
T |
15: 44,096,856 (GRCm39) |
|
probably null |
Het |
Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
Tuft1 |
C |
A |
3: 94,522,108 (GRCm39) |
M319I |
probably benign |
Het |
Vill |
C |
A |
9: 118,889,461 (GRCm39) |
N132K |
probably damaging |
Het |
Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
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 |
R1534:Wars2
|
UTSW |
3 |
99,124,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R2118:Wars2
|
UTSW |
3 |
99,123,883 (GRCm39) |
missense |
probably benign |
0.06 |
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'- GAAGACATGCTATTGTGCAATCAG -3'
(R):5'- AATTTCTCAATCACAGCATCGGC -3'
Sequencing Primer
(F):5'- GTCTTCCAGGACTAGACTGTAACG -3'
(R):5'- ATCGGCCACTAGCAGCTTGTAG -3'
|
Posted On |
2015-06-12 |