Incidental Mutation 'R2208:Tars3'
| ID |
236780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars3
|
| Ensembl Gene |
ENSMUSG00000030515 |
| Gene Name |
threonyl-tRNA synthetase 3 |
| Synonyms |
A530046H20Rik, Tarsl2 |
| MMRRC Submission |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
65644898-65692091 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65682848 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 566
(S566P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032728]
|
| AlphaFold |
Q8BLY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032728
AA Change: S566P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515
AA Change: S566P
| 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: ENSMUST00000127354
|
| Meta Mutation Damage Score |
0.9017 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 9,017,732 (GRCm38) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,533,455 (GRCm38) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,532,344 (GRCm38) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,107,960 (GRCm38) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,841,178 (GRCm38) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,336,029 (GRCm38) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,609,382 (GRCm38) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,738,985 (GRCm38) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,678,099 (GRCm38) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,265,355 (GRCm38) |
V22D |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,194,403 (GRCm38) |
N883K |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,560,961 (GRCm38) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,556,936 (GRCm38) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 115,126,594 (GRCm38) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,791,597 (GRCm38) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,988,762 (GRCm38) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,472,684 (GRCm38) |
|
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm38) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,023,453 (GRCm38) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,380,297 (GRCm38) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 100,102,939 (GRCm38) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,247,877 (GRCm38) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,855,790 (GRCm38) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,614,415 (GRCm38) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,134,109 (GRCm38) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,590,108 (GRCm38) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,871,549 (GRCm38) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,477,614 (GRCm38) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 84,716,247 (GRCm38) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,965,719 (GRCm38) |
D196G |
probably damaging |
Het |
| Or11h4b |
T |
C |
14: 50,681,563 (GRCm38) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,365,802 (GRCm38) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,250,347 (GRCm38) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,696,131 (GRCm38) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,999,639 (GRCm38) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,799,264 (GRCm38) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,269,172 (GRCm38) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,617,964 (GRCm38) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,232 (GRCm38) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,402,088 (GRCm38) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,906,318 (GRCm38) |
T92A |
possibly damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,792 (GRCm38) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 50,866,864 (GRCm38) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,214,563 (GRCm38) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,079,240 (GRCm38) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 30,004,246 (GRCm38) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,297,443 (GRCm38) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 25,860,388 (GRCm38) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 26,974,124 (GRCm38) |
C168R |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,193,145 (GRCm38) |
V462E |
probably benign |
Het |
|
| Other mutations in Tars3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Tars3
|
APN |
7 |
65,652,259 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL00470:Tars3
|
APN |
7 |
65,688,908 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00594:Tars3
|
APN |
7 |
65,676,132 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01352:Tars3
|
APN |
7 |
65,658,910 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01519:Tars3
|
APN |
7 |
65,663,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01726:Tars3
|
APN |
7 |
65,682,818 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02370:Tars3
|
APN |
7 |
65,661,165 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02729:Tars3
|
APN |
7 |
65,682,819 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03234:Tars3
|
APN |
7 |
65,652,278 (GRCm38) |
missense |
probably benign |
0.06 |
|
gary
|
UTSW |
7 |
65,688,952 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8254_tarsl2_650
|
UTSW |
7 |
65,676,061 (GRCm38) |
missense |
probably benign |
|
|
smart_money
|
UTSW |
7 |
65,678,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0127:Tars3
|
UTSW |
7 |
65,664,969 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0153:Tars3
|
UTSW |
7 |
65,684,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0605:Tars3
|
UTSW |
7 |
65,678,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1070:Tars3
|
UTSW |
7 |
65,655,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1450:Tars3
|
UTSW |
7 |
65,647,496 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1467:Tars3
|
UTSW |
7 |
65,655,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Tars3
|
UTSW |
7 |
65,655,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2142:Tars3
|
UTSW |
7 |
65,658,897 (GRCm38) |
missense |
probably benign |
|
|
R2143:Tars3
|
UTSW |
7 |
65,655,791 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2144:Tars3
|
UTSW |
7 |
65,655,791 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2145:Tars3
|
UTSW |
7 |
65,655,791 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R3713:Tars3
|
UTSW |
7 |
65,688,952 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3715:Tars3
|
UTSW |
7 |
65,688,952 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3914:Tars3
|
UTSW |
7 |
65,683,808 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3929:Tars3
|
UTSW |
7 |
65,684,043 (GRCm38) |
splice site |
probably null |
|
|
R4008:Tars3
|
UTSW |
7 |
65,678,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4064:Tars3
|
UTSW |
7 |
65,652,270 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4367:Tars3
|
UTSW |
7 |
65,682,819 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4652:Tars3
|
UTSW |
7 |
65,689,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4825:Tars3
|
UTSW |
7 |
65,647,554 (GRCm38) |
missense |
probably benign |
0.38 |
|
R4901:Tars3
|
UTSW |
7 |
65,691,294 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4999:Tars3
|
UTSW |
7 |
65,658,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5423:Tars3
|
UTSW |
7 |
65,683,819 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5756:Tars3
|
UTSW |
7 |
65,675,976 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5772:Tars3
|
UTSW |
7 |
65,684,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6160:Tars3
|
UTSW |
7 |
65,682,779 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6230:Tars3
|
UTSW |
7 |
65,686,436 (GRCm38) |
splice site |
probably null |
|
|
R6424:Tars3
|
UTSW |
7 |
65,655,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6615:Tars3
|
UTSW |
7 |
65,678,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6792:Tars3
|
UTSW |
7 |
65,662,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7350:Tars3
|
UTSW |
7 |
65,658,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7549:Tars3
|
UTSW |
7 |
65,647,593 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7592:Tars3
|
UTSW |
7 |
65,658,871 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7634:Tars3
|
UTSW |
7 |
65,676,012 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7710:Tars3
|
UTSW |
7 |
65,664,969 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7808:Tars3
|
UTSW |
7 |
65,652,261 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7875:Tars3
|
UTSW |
7 |
65,678,151 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8254:Tars3
|
UTSW |
7 |
65,676,061 (GRCm38) |
missense |
probably benign |
|
|
R8793:Tars3
|
UTSW |
7 |
65,644,925 (GRCm38) |
start gained |
probably benign |
|
|
R9162:Tars3
|
UTSW |
7 |
65,682,770 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9200:Tars3
|
UTSW |
7 |
65,652,265 (GRCm38) |
missense |
probably benign |
|
|
R9461:Tars3
|
UTSW |
7 |
65,689,971 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9533:Tars3
|
UTSW |
7 |
65,684,060 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Z1177:Tars3
|
UTSW |
7 |
65,652,264 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCCTGGTGTTAAAATCAGGC -3'
(R):5'- TCTTCATATGGTCACCATGGC -3'
Sequencing Primer
(F):5'- AAGAGCACTGCTGTTCTTGCAAG -3'
(R):5'- TATGGTCACCATGGCGACGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation