Incidental Mutation 'R8697:Tars2'
| ID |
668764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars2
|
| Ensembl Gene |
ENSMUSG00000028107 |
| Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
| Synonyms |
Tarsl1, 2610024N01Rik |
| MMRRC Submission |
068551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8697 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95653374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 509
(E509K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000163530]
[ENSMUST00000195929]
[ENSMUST00000196077]
[ENSMUST00000196868]
[ENSMUST00000197720]
[ENSMUST00000198289]
[ENSMUST00000199464]
[ENSMUST00000199570]
|
| AlphaFold |
Q3UQ84 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029752
AA Change: E509K
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: E509K
| 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 |
possibly damaging
Transcript: ENSMUST00000074339
AA Change: E509K
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: E509K
| 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 benign
Transcript: ENSMUST00000098857
AA Change: E382K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: E382K
| 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 |
possibly damaging
Transcript: ENSMUST00000163530
AA Change: E428K
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: E428K
| 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
|
| 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 |
probably benign
Transcript: ENSMUST00000196868
|
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (58/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
C |
T |
1: 161,795,565 (GRCm39) |
A8T |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,351,441 (GRCm39) |
V1130A |
probably damaging |
Het |
| Ackr1 |
A |
G |
1: 173,159,775 (GRCm39) |
F248S |
probably damaging |
Het |
| Alx4 |
G |
A |
2: 93,505,657 (GRCm39) |
R253Q |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,122,783 (GRCm39) |
I485V |
possibly damaging |
Het |
| Aqp7 |
T |
C |
4: 41,045,305 (GRCm39) |
E25G |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,307,524 (GRCm39) |
N1753D |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,570,865 (GRCm39) |
N1063K |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,231,945 (GRCm39) |
V1801A |
probably benign |
Het |
| Ccdc171 |
T |
C |
4: 83,600,577 (GRCm39) |
W868R |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,710,779 (GRCm39) |
Y165H |
probably damaging |
Het |
| Clip4 |
G |
T |
17: 72,163,270 (GRCm39) |
G614V |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,838,986 (GRCm39) |
M236L |
probably damaging |
Het |
| Ctps1 |
T |
C |
4: 120,399,947 (GRCm39) |
D470G |
probably benign |
Het |
| Dmwd |
A |
C |
7: 18,812,113 (GRCm39) |
Q189P |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,976,985 (GRCm39) |
I1869T |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,497,998 (GRCm39) |
N361S |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,591,157 (GRCm39) |
H105Y |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,239,295 (GRCm39) |
Y603* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,294,811 (GRCm39) |
Y420C |
possibly damaging |
Het |
| Frem2 |
T |
A |
3: 53,433,249 (GRCm39) |
T2692S |
probably damaging |
Het |
| Gna12 |
T |
A |
5: 140,771,200 (GRCm39) |
R157S |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,883 (GRCm39) |
S243T |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,819,320 (GRCm39) |
|
probably benign |
Het |
| Hoxd11 |
G |
A |
2: 74,513,013 (GRCm39) |
G93R |
unknown |
Het |
| Hydin |
A |
G |
8: 111,259,515 (GRCm39) |
I2496V |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,226,308 (GRCm39) |
I2455T |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,419,196 (GRCm39) |
R482* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,500,327 (GRCm39) |
Y2640C |
probably damaging |
Het |
| Kif20a |
C |
G |
18: 34,761,584 (GRCm39) |
Q326E |
probably benign |
Het |
| Lamp1 |
A |
T |
8: 13,224,448 (GRCm39) |
M371L |
possibly damaging |
Het |
| Lcn6 |
A |
G |
2: 25,567,166 (GRCm39) |
N56D |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,784 (GRCm39) |
V434A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,065,615 (GRCm39) |
N331S |
probably damaging |
Het |
| Mndal |
C |
A |
1: 173,700,558 (GRCm39) |
E138* |
probably null |
Het |
| Morc3 |
T |
C |
16: 93,667,908 (GRCm39) |
V762A |
probably benign |
Het |
| Ngef |
A |
T |
1: 87,417,459 (GRCm39) |
F279Y |
probably damaging |
Het |
| Or10ac1 |
A |
G |
6: 42,515,629 (GRCm39) |
V109A |
probably damaging |
Het |
| Or5m13b |
A |
T |
2: 85,754,200 (GRCm39) |
K196I |
possibly damaging |
Het |
| Padi4 |
GGAGCTCCTGA |
GGA |
4: 140,485,230 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
G |
A |
18: 37,441,832 (GRCm39) |
V381M |
probably benign |
Het |
| Ppm1d |
T |
C |
11: 85,227,986 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,877,055 (GRCm39) |
T807A |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,208,855 (GRCm39) |
K518E |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,328,274 (GRCm39) |
S1441G |
probably damaging |
Het |
| Slc52a3 |
A |
G |
2: 151,846,396 (GRCm39) |
D119G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,628,042 (GRCm39) |
H379Y |
unknown |
Het |
| Ssr1 |
G |
T |
13: 38,167,425 (GRCm39) |
S246* |
probably null |
Het |
| Tepsin |
G |
T |
11: 119,988,354 (GRCm39) |
Y34* |
probably null |
Het |
| Tmtc2 |
A |
G |
10: 105,205,831 (GRCm39) |
I488T |
probably damaging |
Het |
| Trgc2 |
A |
T |
13: 19,491,514 (GRCm39) |
M69K |
|
Het |
| Ttn |
A |
G |
2: 76,575,120 (GRCm39) |
W25258R |
probably damaging |
Het |
| Utp14b |
T |
C |
1: 78,644,244 (GRCm39) |
M714T |
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,115,461 (GRCm39) |
H308Q |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,206,220 (GRCm39) |
D480G |
probably benign |
Het |
| Xcl1 |
C |
T |
1: 164,763,008 (GRCm39) |
V18I |
unknown |
Het |
| Zcchc2 |
C |
A |
1: 105,958,494 (GRCm39) |
N988K |
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 |
|
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 |
|
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 |
|
|
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'- TGCTGTAGAACCTTCGAGGG -3'
(R):5'- TGCAGTATAGCTACCCCTCTAG -3'
Sequencing Primer
(F):5'- CTGTAGAACCTTCGAGGGAACAAG -3'
(R):5'- GCAGTATAGCTACCCCTCTAGTTTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation