Incidental Mutation 'IGL02864:Wars1'
ID |
362298 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wars1
|
Ensembl Gene |
ENSMUSG00000021266 |
Gene Name |
tryptophanyl-tRNA synthetase1 |
Synonyms |
Wars |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02864
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
108825956-108860095 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108848791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 52
(M52T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109848]
[ENSMUST00000160477]
[ENSMUST00000161154]
[ENSMUST00000161410]
[ENSMUST00000162748]
|
AlphaFold |
P32921 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109848
AA Change: M52T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105474 Gene: ENSMUSG00000021266 AA Change: M52T
Domain | Start | End | E-Value | Type |
WHEP-TRS
|
16 |
72 |
3.01e-23 |
SMART |
Pfam:tRNA-synt_1b
|
155 |
447 |
5.8e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160974
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161154
AA Change: M52T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124625 Gene: ENSMUSG00000021266 AA Change: M52T
Domain | Start | End | E-Value | Type |
WHEP-TRS
|
16 |
72 |
3.01e-23 |
SMART |
Pfam:tRNA-synt_1b
|
155 |
446 |
1.4e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161410
AA Change: M52T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125320 Gene: ENSMUSG00000021266 AA Change: M52T
Domain | Start | End | E-Value | Type |
WHEP-TRS
|
16 |
72 |
3.01e-23 |
SMART |
Pfam:tRNA-synt_1b
|
155 |
447 |
5.8e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162748
|
SMART Domains |
Protein: ENSMUSP00000125102 Gene: ENSMUSG00000021266
Domain | Start | End | E-Value | Type |
PDB:2QUK|A
|
4 |
37 |
1e-8 |
PDB |
SCOP:d1fyja_
|
14 |
37 |
8e-7 |
SMART |
Blast:WHEP
|
16 |
37 |
3e-7 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221779
|
Coding Region Coverage |
|
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. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,937,080 (GRCm39) |
R347G |
probably damaging |
Het |
Actl11 |
G |
A |
9: 107,806,186 (GRCm39) |
A170T |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,440,670 (GRCm39) |
D241G |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,835,308 (GRCm39) |
W745R |
probably damaging |
Het |
Arhgef7 |
G |
A |
8: 11,865,247 (GRCm39) |
V401I |
possibly damaging |
Het |
Cacna1d |
A |
G |
14: 29,773,663 (GRCm39) |
V1709A |
probably benign |
Het |
Ccl20 |
T |
C |
1: 83,095,799 (GRCm39) |
|
probably null |
Het |
Cd209d |
C |
T |
8: 3,927,122 (GRCm39) |
V48I |
probably benign |
Het |
Cttnbp2 |
T |
C |
6: 18,374,548 (GRCm39) |
N1559S |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,951,829 (GRCm39) |
Y1890C |
probably damaging |
Het |
Dsel |
A |
T |
1: 111,786,944 (GRCm39) |
M1197K |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,288,938 (GRCm39) |
S259T |
probably benign |
Het |
Fbxw10 |
G |
A |
11: 62,764,349 (GRCm39) |
G672D |
probably damaging |
Het |
Fhod1 |
C |
T |
8: 106,063,796 (GRCm39) |
|
probably benign |
Het |
Gstk1 |
A |
G |
6: 42,224,687 (GRCm39) |
Y135C |
possibly damaging |
Het |
Gtpbp2 |
G |
A |
17: 46,476,520 (GRCm39) |
C282Y |
probably benign |
Het |
Hapln3 |
A |
T |
7: 78,767,812 (GRCm39) |
W113R |
probably benign |
Het |
Ifng |
A |
G |
10: 118,278,561 (GRCm39) |
Y74C |
probably damaging |
Het |
Kyat1 |
C |
A |
2: 30,082,089 (GRCm39) |
|
probably benign |
Het |
Las1l |
A |
T |
X: 94,991,446 (GRCm39) |
D308E |
possibly damaging |
Het |
Mdh1b |
T |
A |
1: 63,760,762 (GRCm39) |
T100S |
probably benign |
Het |
Nrap |
A |
T |
19: 56,338,806 (GRCm39) |
M810K |
probably damaging |
Het |
Otof |
T |
C |
5: 30,543,685 (GRCm39) |
D593G |
probably damaging |
Het |
Pnma5 |
A |
T |
X: 72,079,457 (GRCm39) |
D408E |
probably benign |
Het |
Pramel46 |
G |
T |
5: 95,418,543 (GRCm39) |
A151E |
possibly damaging |
Het |
Psen2 |
T |
C |
1: 180,073,268 (GRCm39) |
T18A |
probably benign |
Het |
Ptk7 |
A |
T |
17: 46,883,659 (GRCm39) |
V802E |
probably damaging |
Het |
Setd1b |
G |
A |
5: 123,297,002 (GRCm39) |
|
probably benign |
Het |
Snap91 |
T |
C |
9: 86,720,141 (GRCm39) |
N132S |
possibly damaging |
Het |
Spag9 |
A |
G |
11: 93,997,487 (GRCm39) |
H675R |
probably damaging |
Het |
Tpra1 |
C |
A |
6: 88,888,868 (GRCm39) |
P350H |
probably damaging |
Het |
Trim43a |
C |
T |
9: 88,470,165 (GRCm39) |
R324C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,566,675 (GRCm39) |
I28073V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,767,095 (GRCm39) |
H3023Q |
probably benign |
Het |
Vmn1r21 |
A |
G |
6: 57,820,661 (GRCm39) |
V261A |
probably benign |
Het |
Vwa5b1 |
G |
A |
4: 138,336,286 (GRCm39) |
P103S |
probably benign |
Het |
Zcchc2 |
C |
T |
1: 105,943,814 (GRCm39) |
H460Y |
probably damaging |
Het |
Zscan12 |
G |
T |
13: 21,552,730 (GRCm39) |
V185F |
probably benign |
Het |
|
Other mutations in Wars1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01961:Wars1
|
APN |
12 |
108,832,096 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02327:Wars1
|
APN |
12 |
108,832,227 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02962:Wars1
|
APN |
12 |
108,841,706 (GRCm39) |
missense |
probably damaging |
0.99 |
R0271:Wars1
|
UTSW |
12 |
108,841,119 (GRCm39) |
missense |
probably benign |
|
R0485:Wars1
|
UTSW |
12 |
108,841,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R0669:Wars1
|
UTSW |
12 |
108,831,944 (GRCm39) |
missense |
probably benign |
0.00 |
R1144:Wars1
|
UTSW |
12 |
108,854,291 (GRCm39) |
nonsense |
probably null |
|
R1581:Wars1
|
UTSW |
12 |
108,841,635 (GRCm39) |
nonsense |
probably null |
|
R1730:Wars1
|
UTSW |
12 |
108,841,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Wars1
|
UTSW |
12 |
108,841,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Wars1
|
UTSW |
12 |
108,854,359 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5382:Wars1
|
UTSW |
12 |
108,848,706 (GRCm39) |
missense |
probably benign |
|
R5703:Wars1
|
UTSW |
12 |
108,841,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Wars1
|
UTSW |
12 |
108,827,309 (GRCm39) |
missense |
probably benign |
0.00 |
R7186:Wars1
|
UTSW |
12 |
108,846,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R7508:Wars1
|
UTSW |
12 |
108,848,801 (GRCm39) |
missense |
probably benign |
0.01 |
R7919:Wars1
|
UTSW |
12 |
108,847,030 (GRCm39) |
missense |
probably benign |
0.11 |
R8530:Wars1
|
UTSW |
12 |
108,848,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R9132:Wars1
|
UTSW |
12 |
108,827,199 (GRCm39) |
missense |
probably benign |
0.41 |
|
Posted On |
2015-12-18 |