Incidental Mutation 'IGL01459:Tars1'
ID |
87935 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tars1
|
Ensembl Gene |
ENSMUSG00000022241 |
Gene Name |
threonyl-tRNA synthetase 1 |
Synonyms |
D15Wsu59e, Tars, ThrRS |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
IGL01459
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
11383749-11399744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11391940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 265
(V265A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022849
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022849]
[ENSMUST00000228814]
|
AlphaFold |
Q9D0R2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022849
AA Change: V265A
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000022849 Gene: ENSMUSG00000022241 AA Change: V265A
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
45 |
N/A |
INTRINSIC |
Pfam:TGS
|
82 |
142 |
7.5e-18 |
PFAM |
tRNA_SAD
|
248 |
297 |
1.91e-16 |
SMART |
Pfam:tRNA-synt_2b
|
396 |
607 |
5e-38 |
PFAM |
Pfam:HGTP_anticodon
|
619 |
710 |
6.5e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226597
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226944
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228710
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228814
|
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. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
Het |
Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
Other mutations in Tars1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00551:Tars1
|
APN |
15 |
11,388,307 (GRCm39) |
splice site |
probably null |
|
IGL00642:Tars1
|
APN |
15 |
11,394,458 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01315:Tars1
|
APN |
15 |
11,389,820 (GRCm39) |
nonsense |
probably null |
|
IGL02141:Tars1
|
APN |
15 |
11,391,280 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03292:Tars1
|
APN |
15 |
11,384,107 (GRCm39) |
missense |
probably benign |
0.22 |
R0383:Tars1
|
UTSW |
15 |
11,390,411 (GRCm39) |
missense |
probably benign |
|
R0517:Tars1
|
UTSW |
15 |
11,394,452 (GRCm39) |
nonsense |
probably null |
|
R0685:Tars1
|
UTSW |
15 |
11,385,259 (GRCm39) |
missense |
probably benign |
|
R1589:Tars1
|
UTSW |
15 |
11,388,261 (GRCm39) |
missense |
probably benign |
0.32 |
R1753:Tars1
|
UTSW |
15 |
11,394,329 (GRCm39) |
nonsense |
probably null |
|
R2051:Tars1
|
UTSW |
15 |
11,393,280 (GRCm39) |
nonsense |
probably null |
|
R2060:Tars1
|
UTSW |
15 |
11,394,459 (GRCm39) |
missense |
probably benign |
0.03 |
R2216:Tars1
|
UTSW |
15 |
11,389,794 (GRCm39) |
missense |
probably benign |
0.00 |
R3610:Tars1
|
UTSW |
15 |
11,392,990 (GRCm39) |
missense |
probably damaging |
0.99 |
R4656:Tars1
|
UTSW |
15 |
11,394,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R4844:Tars1
|
UTSW |
15 |
11,385,281 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4974:Tars1
|
UTSW |
15 |
11,390,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R5551:Tars1
|
UTSW |
15 |
11,392,068 (GRCm39) |
missense |
probably damaging |
0.97 |
R5992:Tars1
|
UTSW |
15 |
11,397,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R6742:Tars1
|
UTSW |
15 |
11,394,427 (GRCm39) |
missense |
probably damaging |
0.98 |
R6778:Tars1
|
UTSW |
15 |
11,389,785 (GRCm39) |
missense |
probably benign |
0.06 |
R6850:Tars1
|
UTSW |
15 |
11,392,885 (GRCm39) |
missense |
probably benign |
|
R7270:Tars1
|
UTSW |
15 |
11,392,105 (GRCm39) |
missense |
probably benign |
0.00 |
R7401:Tars1
|
UTSW |
15 |
11,392,095 (GRCm39) |
nonsense |
probably null |
|
R7743:Tars1
|
UTSW |
15 |
11,399,458 (GRCm39) |
splice site |
probably null |
|
R8062:Tars1
|
UTSW |
15 |
11,388,400 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8852:Tars1
|
UTSW |
15 |
11,393,348 (GRCm39) |
missense |
probably benign |
0.02 |
R8942:Tars1
|
UTSW |
15 |
11,384,183 (GRCm39) |
missense |
probably benign |
0.27 |
R9205:Tars1
|
UTSW |
15 |
11,397,265 (GRCm39) |
critical splice donor site |
probably null |
|
R9362:Tars1
|
UTSW |
15 |
11,387,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R9668:Tars1
|
UTSW |
15 |
11,394,446 (GRCm39) |
nonsense |
probably null |
|
Z1088:Tars1
|
UTSW |
15 |
11,391,970 (GRCm39) |
missense |
probably benign |
0.24 |
|
Posted On |
2013-11-18 |