Incidental Mutation 'IGL02962:Wars1'
ID |
365386 |
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 # |
IGL02962
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
108825956-108860095 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108841706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 147
(M147K)
|
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: M147K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105474 Gene: ENSMUSG00000021266 AA Change: M147K
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 damaging
Transcript: ENSMUST00000161154
AA Change: M147K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124625 Gene: ENSMUSG00000021266 AA Change: M147K
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: M147K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125320 Gene: ENSMUSG00000021266 AA Change: M147K
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 |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
Acvrl1 |
T |
C |
15: 101,033,382 (GRCm39) |
Y90H |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,957,987 (GRCm39) |
|
probably benign |
Het |
Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
Miga1 |
A |
T |
3: 151,990,978 (GRCm39) |
|
probably benign |
Het |
Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
Prkra |
G |
A |
2: 76,463,891 (GRCm39) |
T257M |
probably damaging |
Het |
Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 91,996,990 (GRCm39) |
V28D |
possibly damaging |
Het |
Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
Slc7a2 |
T |
A |
8: 41,358,621 (GRCm39) |
F321L |
probably damaging |
Het |
Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
Ssbp2 |
G |
T |
13: 91,790,490 (GRCm39) |
V118L |
possibly damaging |
Het |
Sugp1 |
T |
A |
8: 70,512,512 (GRCm39) |
|
probably benign |
Het |
Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
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 |
|
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 |