Incidental Mutation 'R3610:Tars'
| ID |
269210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars
|
| Ensembl Gene |
ENSMUSG00000022241 |
| Gene Name |
threonyl-tRNA synthetase |
| Synonyms |
D15Wsu59e, ThrRS |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R3610 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
11382301-11399665 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11392904 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 152
(Y152C)
|
| 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: Y152C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: Y152C
| 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 |
probably benign
Transcript: ENSMUST00000228814
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
C |
A |
11: 94,561,346 (GRCm38) |
V457L |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 84,559,065 (GRCm38) |
R733S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,712,326 (GRCm38) |
E856D |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,285,933 (GRCm38) |
F989S |
probably damaging |
Het |
| Dcaf10 |
G |
T |
4: 45,372,962 (GRCm38) |
E409* |
probably null |
Het |
| Ddx3y |
T |
C |
Y: 1,263,928 (GRCm38) |
N545S |
probably null |
Het |
| Eef2k |
A |
G |
7: 120,889,235 (GRCm38) |
S448G |
probably benign |
Het |
| Irf2bpl |
T |
C |
12: 86,881,857 (GRCm38) |
I681V |
probably benign |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,201,791 (GRCm38) |
|
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,136,278 (GRCm38) |
V840A |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,118,230 (GRCm38) |
T72A |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,983,770 (GRCm38) |
F796S |
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,579,904 (GRCm38) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,154,061 (GRCm38) |
1814 |
probably null |
Het |
| Tmem184a |
A |
G |
5: 139,807,955 (GRCm38) |
|
probably null |
Het |
| Tmem8 |
G |
A |
17: 26,118,886 (GRCm38) |
V415I |
probably benign |
Het |
| Tsc2 |
A |
C |
17: 24,622,550 (GRCm38) |
I365S |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,861,072 (GRCm38) |
V295I |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,578,626 (GRCm38) |
H253L |
possibly damaging |
Het |
|
| Other mutations in Tars |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Tars
|
APN |
15 |
11,388,221 (GRCm38) |
splice site |
probably null |
|
|
IGL00642:Tars
|
APN |
15 |
11,394,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01315:Tars
|
APN |
15 |
11,389,734 (GRCm38) |
nonsense |
probably null |
|
|
IGL01459:Tars
|
APN |
15 |
11,391,854 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL02141:Tars
|
APN |
15 |
11,391,194 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03292:Tars
|
APN |
15 |
11,384,021 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0383:Tars
|
UTSW |
15 |
11,390,325 (GRCm38) |
missense |
probably benign |
|
|
R0517:Tars
|
UTSW |
15 |
11,394,366 (GRCm38) |
nonsense |
probably null |
|
|
R0685:Tars
|
UTSW |
15 |
11,385,173 (GRCm38) |
missense |
probably benign |
|
|
R1589:Tars
|
UTSW |
15 |
11,388,175 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1753:Tars
|
UTSW |
15 |
11,394,243 (GRCm38) |
nonsense |
probably null |
|
|
R2051:Tars
|
UTSW |
15 |
11,393,194 (GRCm38) |
nonsense |
probably null |
|
|
R2060:Tars
|
UTSW |
15 |
11,394,373 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2216:Tars
|
UTSW |
15 |
11,389,708 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4656:Tars
|
UTSW |
15 |
11,394,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4844:Tars
|
UTSW |
15 |
11,385,195 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4974:Tars
|
UTSW |
15 |
11,390,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5551:Tars
|
UTSW |
15 |
11,391,982 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5992:Tars
|
UTSW |
15 |
11,397,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6742:Tars
|
UTSW |
15 |
11,394,341 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6778:Tars
|
UTSW |
15 |
11,389,699 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6850:Tars
|
UTSW |
15 |
11,392,799 (GRCm38) |
missense |
probably benign |
|
|
R7270:Tars
|
UTSW |
15 |
11,392,019 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7401:Tars
|
UTSW |
15 |
11,392,009 (GRCm38) |
nonsense |
probably null |
|
|
R7743:Tars
|
UTSW |
15 |
11,399,372 (GRCm38) |
splice site |
probably null |
|
|
R8062:Tars
|
UTSW |
15 |
11,388,314 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8852:Tars
|
UTSW |
15 |
11,393,262 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8942:Tars
|
UTSW |
15 |
11,384,097 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9205:Tars
|
UTSW |
15 |
11,397,179 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9362:Tars
|
UTSW |
15 |
11,387,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9668:Tars
|
UTSW |
15 |
11,394,360 (GRCm38) |
nonsense |
probably null |
|
|
Z1088:Tars
|
UTSW |
15 |
11,391,884 (GRCm38) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGTGCTTTAAAGGAAACACAC -3'
(R):5'- TGGACCGTGAGCTGCATAAG -3'
Sequencing Primer
(F):5'- CAGAACTAGACCCGGAGCCATG -3'
(R):5'- ACGAGCTAGTCTGCGTCGTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation