Incidental Mutation 'R5965:Tars2'
| ID |
472007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars2
|
| Ensembl Gene |
ENSMUSG00000028107 |
| Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
| Synonyms |
Tarsl1, 2610024N01Rik |
| MMRRC Submission |
044150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R5965 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 95655464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000074339]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000098857]
[ENSMUST00000163530]
[ENSMUST00000163530]
[ENSMUST00000195929]
[ENSMUST00000195929]
[ENSMUST00000196077]
[ENSMUST00000198289]
[ENSMUST00000198289]
[ENSMUST00000199464]
[ENSMUST00000196868]
[ENSMUST00000197720]
[ENSMUST00000199570]
|
| AlphaFold |
Q3UQ84 |
| Predicted Effect |
probably null
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: 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 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 null
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: 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 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 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 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 |
noncoding transcript
Transcript: ENSMUST00000199869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197720
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.1%
|
| Validation Efficiency |
98% (80/82) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
A |
5: 30,410,637 (GRCm39) |
T23S |
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,798,568 (GRCm39) |
I747T |
possibly damaging |
Het |
| Cacna1c |
T |
A |
6: 118,579,261 (GRCm39) |
H1729L |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,905,525 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,611 (GRCm39) |
M326K |
probably damaging |
Het |
| Dchs1 |
T |
G |
7: 105,405,132 (GRCm39) |
D2470A |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,804 (GRCm39) |
T518A |
probably damaging |
Het |
| Derl2 |
T |
C |
11: 70,905,378 (GRCm39) |
T109A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,402,147 (GRCm39) |
L3994P |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,546,461 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
A |
12: 110,599,212 (GRCm39) |
S1856T |
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,685,999 (GRCm39) |
K358E |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,746,367 (GRCm39) |
|
probably null |
Het |
| Esco1 |
T |
C |
18: 10,593,867 (GRCm39) |
E473G |
possibly damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,388 (GRCm39) |
F342S |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,842,978 (GRCm39) |
T1089S |
probably benign |
Het |
| Fanca |
T |
C |
8: 124,043,149 (GRCm39) |
D79G |
possibly damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,696 (GRCm39) |
Y506C |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,310,565 (GRCm39) |
T379A |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,757,080 (GRCm39) |
N12K |
unknown |
Het |
| Gm34768 |
A |
G |
2: 11,913,316 (GRCm39) |
|
noncoding transcript |
Het |
| Gps2 |
A |
G |
11: 69,805,620 (GRCm39) |
E46G |
possibly damaging |
Het |
| Gsdmc |
T |
C |
15: 63,676,447 (GRCm39) |
|
probably null |
Het |
| Gys1 |
C |
T |
7: 45,104,763 (GRCm39) |
T666I |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,169,651 (GRCm39) |
|
probably benign |
Het |
| Iffo1 |
T |
A |
6: 125,129,471 (GRCm39) |
|
probably benign |
Het |
| Ighv1-51 |
T |
C |
12: 115,095,177 (GRCm39) |
|
noncoding transcript |
Het |
| Kansl3 |
T |
A |
1: 36,384,601 (GRCm39) |
|
probably null |
Het |
| Kdm3a |
A |
G |
6: 71,598,364 (GRCm39) |
I174T |
probably benign |
Het |
| Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
| Lair1 |
T |
C |
7: 4,032,023 (GRCm39) |
D28G |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,562,944 (GRCm39) |
D489G |
possibly damaging |
Het |
| Lamb3 |
A |
T |
1: 193,025,768 (GRCm39) |
I1153F |
probably damaging |
Het |
| Lsp1 |
T |
A |
7: 142,044,161 (GRCm39) |
|
probably null |
Het |
| Man1a |
A |
G |
10: 53,809,586 (GRCm39) |
|
probably benign |
Het |
| Mcam |
A |
C |
9: 44,047,925 (GRCm39) |
S57R |
probably damaging |
Het |
| Mrgprf |
C |
A |
7: 144,861,168 (GRCm39) |
|
probably benign |
Het |
| Nfia |
T |
C |
4: 97,999,529 (GRCm39) |
*499Q |
probably null |
Het |
| Nmbr |
C |
A |
10: 14,642,554 (GRCm39) |
R38S |
probably benign |
Het |
| Or12e7 |
T |
G |
2: 87,288,381 (GRCm39) |
F291V |
probably benign |
Het |
| Or51a25 |
C |
A |
7: 102,373,467 (GRCm39) |
V77L |
probably benign |
Het |
| Or5h23 |
T |
C |
16: 58,906,666 (GRCm39) |
Y60C |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,105,424 (GRCm39) |
H741Y |
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,861,489 (GRCm39) |
M941L |
probably benign |
Het |
| Phaf1 |
T |
C |
8: 105,961,171 (GRCm39) |
F69L |
probably damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,431,633 (GRCm39) |
T331M |
probably damaging |
Het |
| Prkg1 |
T |
C |
19: 30,701,556 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
T |
2: 26,112,233 (GRCm39) |
V103D |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,063,092 (GRCm39) |
T95A |
probably damaging |
Het |
| Ric1 |
G |
A |
19: 29,548,171 (GRCm39) |
D280N |
probably damaging |
Het |
| Scd1 |
A |
G |
19: 44,388,579 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
A |
G |
1: 107,204,653 (GRCm39) |
I31T |
probably benign |
Het |
| Slc7a11 |
T |
A |
3: 50,333,593 (GRCm39) |
Y386F |
probably benign |
Het |
| Smtnl2 |
A |
T |
11: 72,291,279 (GRCm39) |
|
probably null |
Het |
| Snx2 |
G |
T |
18: 53,327,534 (GRCm39) |
E87* |
probably null |
Het |
| Tax1bp1 |
C |
A |
6: 52,706,317 (GRCm39) |
T106N |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,966,490 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
C |
A |
8: 48,681,543 (GRCm39) |
E2680* |
probably null |
Het |
| Thap7 |
C |
T |
16: 17,348,611 (GRCm39) |
|
probably benign |
Het |
| Thoc6 |
T |
A |
17: 23,889,842 (GRCm39) |
I23F |
possibly damaging |
Het |
| Tmem185b |
T |
G |
1: 119,454,294 (GRCm39) |
Y18* |
probably null |
Het |
| Trav6-1 |
A |
C |
14: 52,876,254 (GRCm39) |
Y58S |
probably damaging |
Het |
| Trbv16 |
A |
T |
6: 41,128,989 (GRCm39) |
I58F |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,838 (GRCm39) |
M122K |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,596,392 (GRCm39) |
|
probably null |
Het |
| Zdhhc24 |
T |
G |
19: 4,933,778 (GRCm39) |
D278E |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,250,427 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,548,878 (GRCm39) |
T769A |
possibly damaging |
Het |
| Znhit6 |
T |
A |
3: 145,284,103 (GRCm39) |
N96K |
possibly 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 |
|
|
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'- GCCGAACTCAAACACCTTGG -3'
(R):5'- CAAGGGAATATGAGCTGGTCTTCTG -3'
Sequencing Primer
(F):5'- TCAAACACCTTGGCTCCATC -3'
(R):5'- AGACAGATCTCATGTAGACTTGG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation