Incidental Mutation 'R5703:Wars1'
ID |
451807 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wars1
|
Ensembl Gene |
ENSMUSG00000021266 |
Gene Name |
tryptophanyl-tRNA synthetase1 |
Synonyms |
Wars |
MMRRC Submission |
043183-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5703 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
108825956-108860095 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108841047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 244
(Y244N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109848]
[ENSMUST00000160477]
[ENSMUST00000161154]
[ENSMUST00000161410]
[ENSMUST00000162748]
|
AlphaFold |
P32921 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109848
AA Change: Y244N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105474 Gene: ENSMUSG00000021266 AA Change: Y244N
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 |
probably damaging
Transcript: ENSMUST00000161154
AA Change: Y244N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124625 Gene: ENSMUSG00000021266 AA Change: Y244N
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 damaging
Transcript: ENSMUST00000161410
AA Change: Y244N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125320 Gene: ENSMUSG00000021266 AA Change: Y244N
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: ENSMUST00000162952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221779
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
Chst2 |
A |
G |
9: 95,286,985 (GRCm39) |
F454L |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,797,183 (GRCm39) |
S399T |
probably benign |
Het |
Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
Dtx4 |
A |
T |
19: 12,459,574 (GRCm39) |
M410K |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
Git1 |
CCG |
C |
11: 77,395,494 (GRCm39) |
|
probably null |
Het |
Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,185,577 (GRCm39) |
|
probably null |
Het |
Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
Ntsr1 |
T |
C |
2: 180,142,226 (GRCm39) |
S6P |
probably damaging |
Het |
Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
Pcdhb6 |
A |
T |
18: 37,467,753 (GRCm39) |
T225S |
probably benign |
Het |
Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
Zc3h6 |
A |
G |
2: 128,835,372 (GRCm39) |
|
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 |
|
IGL02864:Wars1
|
APN |
12 |
108,848,791 (GRCm39) |
missense |
probably benign |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGACAACACGGCTTCATG -3'
(R):5'- ACAGGATGTGTTCAATGTGCC -3'
Sequencing Primer
(F):5'- GACAACACGGCTTCATGTTTATG -3'
(R):5'- CAATGTGCCTTTGGTCATCCAGATG -3'
|
Posted On |
2017-01-03 |