Incidental Mutation 'R7946:Tars2'
ID |
649339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars2
|
Ensembl Gene |
ENSMUSG00000028107 |
Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
Synonyms |
Tarsl1, 2610024N01Rik |
MMRRC Submission |
045991-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R7946 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95657693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 249
(H249Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000163530]
[ENSMUST00000195929]
[ENSMUST00000196077]
[ENSMUST00000196868]
[ENSMUST00000197501]
[ENSMUST00000197720]
[ENSMUST00000198289]
[ENSMUST00000199464]
[ENSMUST00000199570]
|
AlphaFold |
Q3UQ84 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029752
AA Change: H249Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029752 Gene: ENSMUSG00000028107 AA Change: H249Q
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 damaging
Transcript: ENSMUST00000074339
AA Change: H249Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000073946 Gene: ENSMUSG00000028107 AA Change: H249Q
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 damaging
Transcript: ENSMUST00000098857
AA Change: H249Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096456 Gene: ENSMUSG00000028107 AA Change: H249Q
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 damaging
Transcript: ENSMUST00000163530
AA Change: H168Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130269 Gene: ENSMUSG00000028107 AA Change: H168Q
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 damaging
Transcript: ENSMUST00000195929
AA Change: H10Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143757 Gene: ENSMUSG00000028107 AA Change: H10Q
Domain | Start | End | E-Value | Type |
Pfam:tRNA_SAD
|
1 |
28 |
3.2e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196077
AA Change: H248Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143722 Gene: ENSMUSG00000028107 AA Change: H248Q
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
65 |
125 |
5e-13 |
PFAM |
tRNA_SAD
|
232 |
264 |
7.5e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196868
AA Change: H10Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197501
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197720
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198289
AA Change: H10Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143271 Gene: ENSMUSG00000028107 AA Change: H10Q
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 damaging
Transcript: ENSMUST00000199570
AA Change: H168Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143038 Gene: ENSMUSG00000028107 AA Change: H168Q
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
1.5e-13 |
PFAM |
tRNA_SAD
|
152 |
201 |
8.5e-15 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
98% (54/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,126,398 (GRCm39) |
T1186A |
probably benign |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Afap1 |
A |
G |
5: 36,092,995 (GRCm39) |
N33S |
probably benign |
Het |
Afap1 |
G |
A |
5: 36,141,396 (GRCm39) |
|
probably null |
Het |
Ampd3 |
A |
G |
7: 110,377,147 (GRCm39) |
D46G |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,781,707 (GRCm39) |
K246R |
probably benign |
Het |
Aqp9 |
C |
T |
9: 71,030,290 (GRCm39) |
V192M |
probably damaging |
Het |
Aspscr1 |
T |
G |
11: 120,599,443 (GRCm39) |
S132A |
|
Het |
Atp2b4 |
C |
A |
1: 133,658,320 (GRCm39) |
R530L |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,163,325 (GRCm39) |
V541A |
probably benign |
Het |
Caprin1 |
A |
T |
2: 103,603,093 (GRCm39) |
V490E |
probably damaging |
Het |
Ccdc7a |
T |
A |
8: 129,643,627 (GRCm39) |
K734M |
probably damaging |
Het |
Ccdc9b |
G |
T |
2: 118,590,146 (GRCm39) |
P233T |
probably benign |
Het |
Cdc16 |
A |
G |
8: 13,812,882 (GRCm39) |
K138R |
probably benign |
Het |
Cela2a |
A |
G |
4: 141,549,617 (GRCm39) |
S53P |
possibly damaging |
Het |
Clca3a2 |
A |
G |
3: 144,513,075 (GRCm39) |
|
probably null |
Het |
Cntrob |
T |
C |
11: 69,206,047 (GRCm39) |
E373G |
possibly damaging |
Het |
Csmd2 |
T |
C |
4: 128,414,058 (GRCm39) |
Y2633H |
|
Het |
Ctbp1 |
A |
T |
5: 33,407,688 (GRCm39) |
M296K |
probably benign |
Het |
Dido1 |
G |
T |
2: 180,303,501 (GRCm39) |
Q1468K |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,272,739 (GRCm39) |
F2289S |
probably damaging |
Het |
Fndc7 |
T |
A |
3: 108,779,452 (GRCm39) |
D364V |
possibly damaging |
Het |
Ggt7 |
G |
T |
2: 155,347,892 (GRCm39) |
H180Q |
probably damaging |
Het |
Gm14399 |
A |
T |
2: 174,973,273 (GRCm39) |
C161S |
probably damaging |
Het |
Gm17324 |
T |
C |
9: 78,355,794 (GRCm39) |
T62A |
unknown |
Het |
Gpr107 |
A |
G |
2: 31,078,716 (GRCm39) |
I384V |
probably damaging |
Het |
Igsf10 |
C |
A |
3: 59,227,125 (GRCm39) |
V2183L |
possibly damaging |
Het |
Il23r |
T |
A |
6: 67,411,648 (GRCm39) |
H363L |
possibly damaging |
Het |
Inka2 |
T |
A |
3: 105,623,761 (GRCm39) |
L45H |
probably damaging |
Het |
Iqsec1 |
A |
T |
6: 90,667,252 (GRCm39) |
I291N |
probably damaging |
Het |
Kcnc3 |
A |
T |
7: 44,245,569 (GRCm39) |
T620S |
probably benign |
Het |
Kif2b |
T |
C |
11: 91,466,571 (GRCm39) |
N571D |
probably benign |
Het |
Klrb1c |
T |
A |
6: 128,766,072 (GRCm39) |
|
probably benign |
Het |
Mgst2 |
A |
G |
3: 51,584,991 (GRCm39) |
N55S |
probably damaging |
Het |
Neb |
T |
C |
2: 52,102,746 (GRCm39) |
D4509G |
probably damaging |
Het |
Obox1 |
G |
T |
7: 15,289,456 (GRCm39) |
V82F |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,585,163 (GRCm39) |
M190L |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,703,053 (GRCm39) |
D179G |
probably benign |
Het |
Or7e174 |
T |
C |
9: 20,012,780 (GRCm39) |
S242P |
probably damaging |
Het |
Pakap |
A |
T |
4: 57,710,045 (GRCm39) |
N330I |
probably damaging |
Het |
Phf21a |
A |
T |
2: 92,189,512 (GRCm39) |
E590D |
probably damaging |
Het |
Rai14 |
T |
C |
15: 10,574,287 (GRCm39) |
|
probably null |
Het |
Rfx7 |
T |
C |
9: 72,524,096 (GRCm39) |
Y429H |
probably damaging |
Het |
Spata31d1d |
G |
T |
13: 59,878,606 (GRCm39) |
A77E |
probably benign |
Het |
Stra8 |
A |
G |
6: 34,907,816 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
G |
10: 5,200,919 (GRCm39) |
S3550P |
possibly damaging |
Het |
Tomm5 |
T |
C |
4: 45,107,969 (GRCm39) |
E22G |
probably benign |
Het |
Tor1a |
A |
G |
2: 30,853,704 (GRCm39) |
|
probably null |
Het |
Trim43b |
A |
G |
9: 88,973,538 (GRCm39) |
I65T |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,781,739 (GRCm39) |
M640T |
possibly damaging |
Het |
Vegfa |
A |
T |
17: 46,336,377 (GRCm39) |
Y248N |
probably damaging |
Het |
Vmn1r172 |
T |
G |
7: 23,358,857 (GRCm39) |
|
probably null |
Het |
Vmn1r29 |
G |
T |
6: 58,284,834 (GRCm39) |
V185F |
probably benign |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Wdfy4 |
T |
C |
14: 32,792,705 (GRCm39) |
K2114E |
|
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 |
R3962:Tars2
|
UTSW |
3 |
95,662,068 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- GAAACCTTGGGATTTCAGAATGGAG -3'
(R):5'- GTTTGCCATTGCTCTGTCAG -3'
Sequencing Primer
(F):5'- CAGAATGGAGAAAACCCTCTTTTC -3'
(R):5'- GTCAGCAAGACAGTTCTCTCC -3'
|
Posted On |
2020-09-15 |