Incidental Mutation 'IGL03292:Tars'
| ID |
415944 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
11382301-11399665 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11384021 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 720
(E720V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022849]
[ENSMUST00000228814]
|
| AlphaFold |
Q9D0R2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022849
AA Change: E720V
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: E720V
| 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: 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,715,827 |
C713Y |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 80,020,969 |
N205S |
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,280,246 |
F1244V |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,075,121 |
|
probably null |
Het |
| Chsy1 |
A |
C |
7: 66,125,372 |
M150L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,666,555 |
|
probably null |
Het |
| Efhc1 |
T |
C |
1: 20,960,272 |
I143T |
possibly damaging |
Het |
| Elf4 |
A |
C |
X: 48,414,706 |
F642C |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 25,557,755 |
D128G |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,707,491 |
I1953N |
probably damaging |
Het |
| Frmpd4 |
A |
T |
X: 167,477,590 |
I1052K |
probably benign |
Het |
| Ift52 |
T |
A |
2: 163,023,400 |
I57N |
probably damaging |
Het |
| Lilrb4a |
G |
A |
10: 51,494,846 |
|
probably null |
Het |
| Mob3a |
A |
T |
10: 80,691,086 |
I135N |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,480,384 |
I799N |
probably damaging |
Het |
| Rad52 |
T |
C |
6: 119,918,973 |
L265P |
possibly damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,373,565 |
Q155L |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,540,136 |
M821K |
probably benign |
Het |
| Tec |
T |
C |
5: 72,757,364 |
E603G |
probably null |
Het |
| Timp1 |
A |
G |
X: 20,872,818 |
T56A |
probably benign |
Het |
| Txnrd2 |
C |
A |
16: 18,477,729 |
H511Q |
possibly damaging |
Het |
| Ubr4 |
A |
T |
4: 139,440,435 |
D2743V |
probably damaging |
Het |
| Vmn1r211 |
C |
T |
13: 22,852,443 |
G18D |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,411,780 |
Q3127* |
probably null |
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 |
|
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 |
|
R3610:Tars
|
UTSW |
15 |
11,392,904 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation