Incidental Mutation 'R9362:Tars1'
| ID |
708764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars1
|
| Ensembl Gene |
ENSMUSG00000022241 |
| Gene Name |
threonyl-tRNA synthetase 1 |
| Synonyms |
D15Wsu59e, Tars, ThrRS |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R9362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
11383749-11399744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11387616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 557
(C557R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022849]
[ENSMUST00000228814]
|
| AlphaFold |
Q9D0R2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022849
AA Change: C557R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: C557R
| 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 |
probably benign
Transcript: ENSMUST00000228814
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,236,626 (GRCm39) |
N798I |
possibly damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
| Arhgef17 |
A |
C |
7: 100,580,165 (GRCm39) |
L261R |
probably benign |
Het |
| Bcr |
C |
A |
10: 74,993,023 (GRCm39) |
N839K |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,011,162 (GRCm39) |
T1786A |
probably benign |
Het |
| Bmpr1a |
A |
G |
14: 34,156,360 (GRCm39) |
I169T |
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,922 (GRCm39) |
L1695Q |
probably null |
Het |
| Cnr1 |
T |
C |
4: 33,944,038 (GRCm39) |
I142T |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,833,304 (GRCm39) |
D167V |
possibly damaging |
Het |
| Fam136a |
C |
T |
6: 86,345,855 (GRCm39) |
T124I |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 54,623,064 (GRCm39) |
D70G |
probably benign |
Het |
| Ggcx |
T |
G |
6: 72,405,015 (GRCm39) |
N474K |
probably damaging |
Het |
| Gm10295 |
C |
A |
7: 71,000,755 (GRCm39) |
|
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,791,342 (GRCm39) |
H240R |
probably damaging |
Het |
| Gsr |
A |
T |
8: 34,179,406 (GRCm39) |
D338V |
probably damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,574,258 (GRCm39) |
P144L |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,941,062 (GRCm39) |
I473N |
probably benign |
Het |
| Ighv5-8 |
A |
T |
12: 113,616,940 (GRCm39) |
D107E |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,400,384 (GRCm39) |
S649C |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,803,697 (GRCm39) |
D794G |
probably benign |
Het |
| Mapk3 |
A |
G |
7: 126,363,444 (GRCm39) |
I273V |
|
Het |
| Mycbp2 |
C |
T |
14: 103,497,642 (GRCm39) |
V977I |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,222,932 (GRCm39) |
F758L |
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,343,288 (GRCm39) |
I162F |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,095,265 (GRCm39) |
C1541Y |
|
Het |
| Nwd2 |
G |
T |
5: 63,961,747 (GRCm39) |
D444Y |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,482,391 (GRCm39) |
Y160H |
probably benign |
Het |
| Or8u8 |
C |
A |
2: 86,011,732 (GRCm39) |
C241F |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Sall2 |
T |
A |
14: 52,550,601 (GRCm39) |
K865* |
probably null |
Het |
| Shank2 |
A |
T |
7: 143,963,271 (GRCm39) |
D293V |
probably damaging |
Het |
| Sidt1 |
T |
C |
16: 44,078,316 (GRCm39) |
Y649C |
possibly damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,304,236 (GRCm39) |
E154G |
probably damaging |
Het |
| Slc5a12 |
C |
T |
2: 110,447,044 (GRCm39) |
T184I |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,807 (GRCm39) |
I226T |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,254,865 (GRCm39) |
N1220Y |
probably damaging |
Het |
| Tead2 |
A |
G |
7: 44,881,740 (GRCm39) |
E402G |
probably damaging |
Het |
| Zfp37 |
G |
A |
4: 62,110,299 (GRCm39) |
S296F |
probably benign |
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 |
|
|
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 |
|
|
R9668:Tars1
|
UTSW |
15 |
11,394,446 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Tars1
|
UTSW |
15 |
11,391,970 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGATGGCTCTGTGAACAATC -3'
(R):5'- TTCTATGGGCCAAAGGTCAG -3'
Sequencing Primer
(F):5'- GAACAATCACTGGCCTTTTCTTATC -3'
(R):5'- CTATGGGCCAAAGGTCAGTAGCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation