Incidental Mutation 'IGL00642:Tars1'
| ID |
14367 |
| 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: 0.965)
|
| Stock # |
IGL00642
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
11383749-11399744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11394458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 60
(Y60H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022849]
[ENSMUST00000228814]
|
| AlphaFold |
Q9D0R2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022849
AA Change: Y60H
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: Y60H
| 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: ENSMUST00000228207
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228814
AA Change: Y60H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
T |
C |
X: 80,464,544 (GRCm39) |
R388G |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,010,842 (GRCm39) |
Q533R |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,529 (GRCm39) |
E892K |
probably damaging |
Het |
| Arap2 |
G |
A |
5: 62,890,401 (GRCm39) |
R347* |
probably null |
Het |
| Cdc7 |
A |
G |
5: 107,116,726 (GRCm39) |
I34V |
probably benign |
Het |
| Copb2 |
T |
G |
9: 98,461,086 (GRCm39) |
L383V |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,582,405 (GRCm39) |
F400S |
probably benign |
Het |
| Efr3a |
A |
G |
15: 65,727,266 (GRCm39) |
D605G |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,169 (GRCm39) |
Y181F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,697,427 (GRCm39) |
E1171G |
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 |
|
|
IGL01315:Tars1
|
APN |
15 |
11,389,820 (GRCm39) |
nonsense |
probably null |
|
|
IGL01459:Tars1
|
APN |
15 |
11,391,940 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
2012-12-06 |
Incidental Mutation