Incidental Mutation 'R1070:Tars3'
| ID |
86165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars3
|
| Ensembl Gene |
ENSMUSG00000030515 |
| Gene Name |
threonyl-tRNA synthetase 3 |
| Synonyms |
A530046H20Rik, Tarsl2 |
| MMRRC Submission |
039156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R1070 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
65294646-65341839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65305444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 223
(S223P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032728]
|
| AlphaFold |
Q8BLY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032728
AA Change: S223P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515
AA Change: S223P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
44 |
68 |
N/A |
INTRINSIC |
|
Pfam:TGS
|
151 |
210 |
8.8e-14 |
PFAM |
|
tRNA_SAD
|
316 |
365 |
1.26e-16 |
SMART |
|
Pfam:tRNA-synt_2b
|
464 |
675 |
2.2e-35 |
PFAM |
|
Pfam:HGTP_anticodon
|
687 |
778 |
1.1e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206323
|
| Meta Mutation Damage Score |
0.9643 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,263 (GRCm39) |
D1367G |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,053,491 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,912 (GRCm39) |
N231K |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,517,009 (GRCm39) |
S517P |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,101 (GRCm39) |
I235T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,610 (GRCm39) |
A255V |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,187,382 (GRCm39) |
I11M |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,664,413 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 188,988,960 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
A |
4: 74,291,865 (GRCm39) |
Y827* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,275 (GRCm39) |
T220A |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,112,949 (GRCm39) |
E149G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,908,801 (GRCm39) |
D333G |
probably benign |
Het |
| Net1 |
A |
T |
13: 3,962,930 (GRCm39) |
S45T |
probably benign |
Het |
| Npat |
T |
A |
9: 53,483,892 (GRCm39) |
F1403I |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,182 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,858 (GRCm39) |
D49G |
probably benign |
Het |
| Or7a35 |
C |
T |
10: 78,853,684 (GRCm39) |
P176L |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,390,052 (GRCm39) |
|
probably null |
Het |
| Rab3a |
A |
G |
8: 71,209,840 (GRCm39) |
N40S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,614,660 (GRCm39) |
N74D |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,848 (GRCm39) |
V239F |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,698,547 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Sult2a8 |
T |
A |
7: 14,147,698 (GRCm39) |
I198F |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,904,552 (GRCm39) |
V732M |
possibly damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,681 (GRCm39) |
Y458H |
probably damaging |
Het |
|
| Other mutations in Tars3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Tars3
|
APN |
7 |
65,302,007 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00470:Tars3
|
APN |
7 |
65,338,656 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00594:Tars3
|
APN |
7 |
65,325,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01352:Tars3
|
APN |
7 |
65,308,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01519:Tars3
|
APN |
7 |
65,313,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01726:Tars3
|
APN |
7 |
65,332,566 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02370:Tars3
|
APN |
7 |
65,310,913 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02729:Tars3
|
APN |
7 |
65,332,567 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03234:Tars3
|
APN |
7 |
65,302,026 (GRCm39) |
missense |
probably benign |
0.06 |
|
gary
|
UTSW |
7 |
65,338,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8254_tarsl2_650
|
UTSW |
7 |
65,325,809 (GRCm39) |
missense |
probably benign |
|
|
smart_money
|
UTSW |
7 |
65,327,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Tars3
|
UTSW |
7 |
65,314,717 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0153:Tars3
|
UTSW |
7 |
65,333,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Tars3
|
UTSW |
7 |
65,327,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1450:Tars3
|
UTSW |
7 |
65,297,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1467:Tars3
|
UTSW |
7 |
65,305,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Tars3
|
UTSW |
7 |
65,305,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Tars3
|
UTSW |
7 |
65,308,645 (GRCm39) |
missense |
probably benign |
|
|
R2143:Tars3
|
UTSW |
7 |
65,305,539 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2144:Tars3
|
UTSW |
7 |
65,305,539 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2145:Tars3
|
UTSW |
7 |
65,305,539 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2208:Tars3
|
UTSW |
7 |
65,332,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Tars3
|
UTSW |
7 |
65,338,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3715:Tars3
|
UTSW |
7 |
65,338,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3914:Tars3
|
UTSW |
7 |
65,333,556 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3929:Tars3
|
UTSW |
7 |
65,333,791 (GRCm39) |
splice site |
probably null |
|
|
R4008:Tars3
|
UTSW |
7 |
65,327,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4064:Tars3
|
UTSW |
7 |
65,302,018 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4367:Tars3
|
UTSW |
7 |
65,332,567 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4652:Tars3
|
UTSW |
7 |
65,339,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Tars3
|
UTSW |
7 |
65,297,302 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4901:Tars3
|
UTSW |
7 |
65,341,042 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4999:Tars3
|
UTSW |
7 |
65,308,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5423:Tars3
|
UTSW |
7 |
65,333,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5756:Tars3
|
UTSW |
7 |
65,325,724 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5772:Tars3
|
UTSW |
7 |
65,333,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Tars3
|
UTSW |
7 |
65,332,527 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6230:Tars3
|
UTSW |
7 |
65,336,184 (GRCm39) |
splice site |
probably null |
|
|
R6424:Tars3
|
UTSW |
7 |
65,305,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6615:Tars3
|
UTSW |
7 |
65,327,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Tars3
|
UTSW |
7 |
65,312,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Tars3
|
UTSW |
7 |
65,308,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Tars3
|
UTSW |
7 |
65,297,341 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7592:Tars3
|
UTSW |
7 |
65,308,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7634:Tars3
|
UTSW |
7 |
65,325,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7710:Tars3
|
UTSW |
7 |
65,314,717 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7808:Tars3
|
UTSW |
7 |
65,302,009 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7875:Tars3
|
UTSW |
7 |
65,327,899 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8254:Tars3
|
UTSW |
7 |
65,325,809 (GRCm39) |
missense |
probably benign |
|
|
R8793:Tars3
|
UTSW |
7 |
65,294,673 (GRCm39) |
start gained |
probably benign |
|
|
R9162:Tars3
|
UTSW |
7 |
65,332,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9200:Tars3
|
UTSW |
7 |
65,302,013 (GRCm39) |
missense |
probably benign |
|
|
R9461:Tars3
|
UTSW |
7 |
65,339,719 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9533:Tars3
|
UTSW |
7 |
65,333,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Tars3
|
UTSW |
7 |
65,302,012 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACACTCCCTTCCACATAGGTGTTG -3'
(R):5'- AGCTCAAACTGGGCAAGTCTGTAAG -3'
Sequencing Primer
(F):5'- CCACATAGGTGTTGGGGACTC -3'
(R):5'- tgtggaagacagaggtaggag -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation