Incidental Mutation 'R3962:Tars2'
ID |
312112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars2
|
Ensembl Gene |
ENSMUSG00000028107 |
Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
Synonyms |
Tarsl1, 2610024N01Rik |
MMRRC Submission |
040837-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R3962 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 95662068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143271
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000163530]
[ENSMUST00000195929]
[ENSMUST00000196077]
[ENSMUST00000197720]
[ENSMUST00000196868]
[ENSMUST00000198289]
[ENSMUST00000199464]
[ENSMUST00000199570]
[ENSMUST00000197501]
|
AlphaFold |
Q3UQ84 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029752
|
SMART Domains |
Protein: ENSMUSP00000029752 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
5.6e-14 |
PFAM |
tRNA_SAD
|
233 |
282 |
1.15e-10 |
SMART |
Pfam:tRNA-synt_2b
|
400 |
608 |
2.4e-32 |
PFAM |
Pfam:HGTP_anticodon
|
620 |
711 |
1.5e-18 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000074339
|
SMART Domains |
Protein: ENSMUSP00000073946 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
1.3e-15 |
PFAM |
tRNA_SAD
|
233 |
282 |
1.15e-10 |
SMART |
Pfam:tRNA-synt_2b
|
336 |
519 |
2.8e-39 |
PFAM |
Pfam:HGTP_anticodon
|
594 |
685 |
5.4e-20 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098857
|
SMART Domains |
Protein: ENSMUSP00000096456 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
6.7e-16 |
PFAM |
tRNA_SAD
|
233 |
282 |
1.15e-10 |
SMART |
SCOP:d1atia2
|
332 |
417 |
2e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163530
|
SMART Domains |
Protein: ENSMUSP00000130269 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
2.6e-15 |
PFAM |
tRNA_SAD
|
152 |
201 |
1.15e-10 |
SMART |
Pfam:tRNA-synt_2b
|
255 |
438 |
8.6e-40 |
PFAM |
Pfam:HGTP_anticodon
|
539 |
630 |
1.6e-20 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000195929
|
SMART Domains |
Protein: ENSMUSP00000143757 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:tRNA_SAD
|
1 |
28 |
3.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196077
|
SMART Domains |
Protein: ENSMUSP00000143722 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
65 |
125 |
5e-13 |
PFAM |
tRNA_SAD
|
232 |
264 |
7.5e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196475
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197720
|
Predicted Effect |
probably null
Transcript: ENSMUST00000196868
|
Predicted Effect |
probably null
Transcript: ENSMUST00000198289
|
SMART Domains |
Protein: ENSMUSP00000143271 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
tRNA_SAD
|
2 |
43 |
2.6e-8 |
SMART |
Pfam:tRNA-synt_2b
|
97 |
142 |
6.4e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199464
|
SMART Domains |
Protein: ENSMUSP00000143328 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
1.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199570
|
SMART Domains |
Protein: ENSMUSP00000143038 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
1.5e-13 |
PFAM |
tRNA_SAD
|
152 |
201 |
8.5e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199869
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197501
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
96% (48/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
probably damaging |
Het |
|
Other mutations in Tars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01604:Tars2
|
APN |
3 |
95,647,590 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02523:Tars2
|
APN |
3 |
95,648,705 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02709:Tars2
|
APN |
3 |
95,649,383 (GRCm39) |
splice site |
probably benign |
|
IGL03286:Tars2
|
APN |
3 |
95,662,067 (GRCm39) |
splice site |
probably benign |
|
IGL03348:Tars2
|
APN |
3 |
95,647,580 (GRCm39) |
splice site |
probably null |
|
B6584:Tars2
|
UTSW |
3 |
95,649,462 (GRCm39) |
splice site |
probably null |
|
R0548:Tars2
|
UTSW |
3 |
95,649,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R0657:Tars2
|
UTSW |
3 |
95,655,869 (GRCm39) |
missense |
probably benign |
0.00 |
R1955:Tars2
|
UTSW |
3 |
95,654,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Tars2
|
UTSW |
3 |
95,654,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R2071:Tars2
|
UTSW |
3 |
95,654,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R3025:Tars2
|
UTSW |
3 |
95,654,952 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4676:Tars2
|
UTSW |
3 |
95,660,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Tars2
|
UTSW |
3 |
95,653,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Tars2
|
UTSW |
3 |
95,654,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R5512:Tars2
|
UTSW |
3 |
95,657,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R5894:Tars2
|
UTSW |
3 |
95,654,964 (GRCm39) |
splice site |
probably null |
|
R5965:Tars2
|
UTSW |
3 |
95,655,464 (GRCm39) |
splice site |
probably null |
|
R6381:Tars2
|
UTSW |
3 |
95,661,799 (GRCm39) |
nonsense |
probably null |
|
R6953:Tars2
|
UTSW |
3 |
95,660,426 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7042:Tars2
|
UTSW |
3 |
95,658,057 (GRCm39) |
missense |
probably benign |
0.00 |
R7648:Tars2
|
UTSW |
3 |
95,658,294 (GRCm39) |
missense |
probably benign |
0.26 |
R7877:Tars2
|
UTSW |
3 |
95,653,401 (GRCm39) |
missense |
probably damaging |
0.99 |
R7946:Tars2
|
UTSW |
3 |
95,657,693 (GRCm39) |
missense |
probably damaging |
0.99 |
R8021:Tars2
|
UTSW |
3 |
95,654,826 (GRCm39) |
missense |
probably benign |
|
R8260:Tars2
|
UTSW |
3 |
95,662,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R8310:Tars2
|
UTSW |
3 |
95,658,271 (GRCm39) |
missense |
probably benign |
0.02 |
R8681:Tars2
|
UTSW |
3 |
95,658,199 (GRCm39) |
nonsense |
probably null |
|
R8697:Tars2
|
UTSW |
3 |
95,653,374 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8756:Tars2
|
UTSW |
3 |
95,648,672 (GRCm39) |
missense |
probably benign |
0.32 |
R9498:Tars2
|
UTSW |
3 |
95,647,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R9653:Tars2
|
UTSW |
3 |
95,655,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Tars2
|
UTSW |
3 |
95,662,077 (GRCm39) |
missense |
probably benign |
0.34 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTCCACTACTCCGGAATGG -3'
(R):5'- GGAATGGCGGCTATGTTATCC -3'
Sequencing Primer
(F):5'- CTCCGGAATGGGGTCGTAG -3'
(R):5'- GAATGGCGGCTATGTTATCCAATAG -3'
|
Posted On |
2015-04-29 |