Incidental Mutation 'R6953:Tars2'
| ID |
541301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars2
|
| Ensembl Gene |
ENSMUSG00000028107 |
| Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
| Synonyms |
Tarsl1, 2610024N01Rik |
| MMRRC Submission |
045065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6953 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95660426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 99
(T99A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096456
(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 benign
Transcript: ENSMUST00000029752
AA Change: T99A
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: T99A
| 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 benign
Transcript: ENSMUST00000074339
AA Change: T99A
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: T99A
| 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 |
possibly damaging
Transcript: ENSMUST00000098857
AA Change: T99A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: T99A
| 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
AA Change: T99A
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: T99A
| 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 benign
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
AA Change: T98A
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107
AA Change: T98A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
65 |
125 |
5e-13 |
PFAM |
|
tRNA_SAD
|
232 |
264 |
7.5e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197720
|
| Predicted Effect |
probably benign
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
AA Change: T99A
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107
AA Change: T99A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
66 |
126 |
1.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199570
AA Change: T99A
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107
AA Change: T99A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
66 |
126 |
1.5e-13 |
PFAM |
|
tRNA_SAD
|
152 |
201 |
8.5e-15 |
SMART |
|
| Meta Mutation Damage Score |
0.0636 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,892,223 (GRCm39) |
S128I |
probably damaging |
Het |
| Aadacl2 |
A |
C |
3: 59,932,181 (GRCm39) |
H232P |
possibly damaging |
Het |
| Abcc3 |
A |
G |
11: 94,265,661 (GRCm39) |
Y125H |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,865,592 (GRCm39) |
S84P |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,192,142 (GRCm39) |
K71* |
probably null |
Het |
| Ap2m1 |
T |
A |
16: 20,361,468 (GRCm39) |
W381R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,521,762 (GRCm39) |
I426V |
probably benign |
Het |
| BC024063 |
T |
A |
10: 81,943,733 (GRCm39) |
D31E |
possibly damaging |
Het |
| C3ar1 |
G |
A |
6: 122,827,591 (GRCm39) |
H209Y |
possibly damaging |
Het |
| Ccp110 |
T |
C |
7: 118,321,644 (GRCm39) |
V433A |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,830,540 (GRCm39) |
S1199P |
probably benign |
Het |
| Cyp24a1 |
T |
G |
2: 170,329,866 (GRCm39) |
D362A |
probably benign |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,829,822 (GRCm39) |
Q633K |
probably benign |
Het |
| Ercc4 |
T |
A |
16: 12,948,550 (GRCm39) |
V499D |
probably damaging |
Het |
| Ier3ip1 |
C |
G |
18: 77,027,309 (GRCm39) |
P46R |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,832 (GRCm39) |
T110A |
probably damaging |
Het |
| Isoc1 |
A |
G |
18: 58,804,374 (GRCm39) |
D134G |
possibly damaging |
Het |
| Kif26b |
A |
G |
1: 178,701,637 (GRCm39) |
D672G |
possibly damaging |
Het |
| Klhl33 |
T |
A |
14: 51,128,973 (GRCm39) |
D752V |
possibly damaging |
Het |
| Lcn4 |
A |
G |
2: 26,559,367 (GRCm39) |
Y133H |
probably benign |
Het |
| Mrs2 |
C |
A |
13: 25,185,771 (GRCm39) |
V134L |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,551,825 (GRCm39) |
T4823A |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,093,824 (GRCm39) |
I62T |
probably benign |
Het |
| Or2m13 |
C |
T |
16: 19,226,278 (GRCm39) |
V164I |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,455,117 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,474 (GRCm39) |
M272K |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,049,299 (GRCm39) |
I296L |
probably benign |
Het |
| Papln |
G |
A |
12: 83,828,659 (GRCm39) |
W788* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,479 (GRCm39) |
Q153R |
probably benign |
Het |
| Pcdhgb2 |
C |
T |
18: 37,823,807 (GRCm39) |
T266I |
possibly damaging |
Het |
| Pcdhgc5 |
C |
A |
18: 37,953,514 (GRCm39) |
R263S |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,104,662 (GRCm39) |
T185A |
possibly damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,800,882 (GRCm39) |
D114G |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,632,537 (GRCm39) |
I987N |
probably damaging |
Het |
| Prl3d3 |
A |
G |
13: 27,345,029 (GRCm39) |
M134V |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,779 (GRCm39) |
|
probably null |
Het |
| Racgap1 |
T |
C |
15: 99,524,210 (GRCm39) |
E399G |
probably damaging |
Het |
| Sbspon |
A |
T |
1: 15,930,519 (GRCm39) |
S156T |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,149,813 (GRCm39) |
T927A |
probably damaging |
Het |
| Sec23ip |
C |
A |
7: 128,354,520 (GRCm39) |
S78* |
probably null |
Het |
| Serpina1d |
G |
A |
12: 103,733,989 (GRCm39) |
T105I |
probably benign |
Het |
| Slc25a21 |
T |
A |
12: 57,205,954 (GRCm39) |
N26Y |
probably benign |
Het |
| Smim20 |
T |
A |
5: 53,435,258 (GRCm39) |
D64E |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 99,942,291 (GRCm39) |
I772S |
possibly damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,819,803 (GRCm39) |
T101I |
probably damaging |
Het |
| Tldc2 |
T |
G |
2: 156,931,198 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 187,995,342 (GRCm39) |
R38G |
possibly damaging |
Het |
| Usp19 |
T |
C |
9: 108,376,130 (GRCm39) |
L991P |
possibly damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,973 (GRCm39) |
P795S |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,741 (GRCm39) |
Y402H |
probably benign |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,045,095 (GRCm39) |
I504R |
probably benign |
Het |
| Zfp551 |
A |
T |
7: 12,150,715 (GRCm39) |
C231* |
probably null |
Het |
| Zfp607a |
T |
A |
7: 27,577,790 (GRCm39) |
C287S |
possibly damaging |
Het |
| Zim1 |
T |
A |
7: 6,690,706 (GRCm39) |
T40S |
unknown |
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 |
|
|
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'- TCCCCACTTTTGAATTGAGAAAGTG -3'
(R):5'- AGAATTTCTGCCCTTCCCAATG -3'
Sequencing Primer
(F):5'- AGCAAAAGAACAATTACATTTTCCTG -3'
(R):5'- GCCCTTCCCAATGTAGTGGATAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation