Incidental Mutation 'R8254:Tars3'
| ID |
640650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars3
|
| Ensembl Gene |
ENSMUSG00000030515 |
| Gene Name |
threonyl-tRNA synthetase 3 |
| Synonyms |
A530046H20Rik, Tarsl2 |
| MMRRC Submission |
067680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R8254 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
65294646-65341839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65325809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 461
(N461S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032728]
|
| AlphaFold |
Q8BLY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032728
AA Change: N461S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515
AA Change: N461S
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
| Arhgef2 |
T |
C |
3: 88,549,910 (GRCm39) |
L655P |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,538,153 (GRCm39) |
S100P |
probably damaging |
Het |
| Calb1 |
A |
G |
4: 15,898,926 (GRCm39) |
T141A |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,938 (GRCm39) |
T447A |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,907 (GRCm39) |
N279K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,842,259 (GRCm39) |
D4440G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,323,194 (GRCm39) |
E112D |
possibly damaging |
Het |
| Fam3c |
T |
A |
6: 22,328,675 (GRCm39) |
T71S |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,774 (GRCm39) |
V1119A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,162,144 (GRCm39) |
G188W |
probably damaging |
Het |
| Fndc5 |
T |
C |
4: 129,032,514 (GRCm39) |
V39A |
possibly damaging |
Het |
| Gm14226 |
T |
C |
2: 154,866,646 (GRCm39) |
I201T |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,890,810 (GRCm39) |
Q950* |
probably null |
Het |
| Haspin |
A |
T |
11: 73,027,572 (GRCm39) |
Y506N |
probably benign |
Het |
| Itga2b |
C |
A |
11: 102,358,212 (GRCm39) |
R171L |
probably benign |
Het |
| Kctd2 |
C |
T |
11: 115,311,174 (GRCm39) |
P61S |
unknown |
Het |
| Kirrel2 |
A |
G |
7: 30,149,801 (GRCm39) |
|
probably null |
Het |
| Ldc1 |
C |
A |
4: 130,114,136 (GRCm39) |
A94S |
probably benign |
Het |
| Lmx1b |
A |
G |
2: 33,455,126 (GRCm39) |
F310S |
|
Het |
| Map4k4 |
A |
T |
1: 40,045,835 (GRCm39) |
I574F |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,088,287 (GRCm39) |
K1090R |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 77,842,326 (GRCm39) |
Y820C |
probably damaging |
Het |
| Or5ac25 |
T |
A |
16: 59,182,534 (GRCm39) |
I16L |
probably benign |
Het |
| Or5b96 |
T |
C |
19: 12,867,849 (GRCm39) |
T31A |
probably benign |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,242 (GRCm39) |
Y191H |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,705,089 (GRCm39) |
K475E |
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psd4 |
A |
T |
2: 24,293,223 (GRCm39) |
D696V |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,697,129 (GRCm39) |
F556L |
unknown |
Het |
| Sema4f |
A |
T |
6: 82,894,382 (GRCm39) |
C528S |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,195,550 (GRCm39) |
S680P |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,225,073 (GRCm39) |
T79A |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,440,264 (GRCm39) |
Q96L |
probably damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,227 (GRCm39) |
D274G |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,709,882 (GRCm39) |
|
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,938 (GRCm39) |
S466Y |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,236,560 (GRCm39) |
I1178T |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,714,558 (GRCm39) |
H145L |
probably benign |
Het |
| Zfp606 |
T |
C |
7: 12,226,788 (GRCm39) |
I303T |
possibly damaging |
Het |
| Zfp846 |
A |
G |
9: 20,504,587 (GRCm39) |
D149G |
probably benign |
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 |
|
R1070:Tars3
|
UTSW |
7 |
65,305,444 (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 |
|
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'- CTGTCACCTGAGGAACCATG -3'
(R):5'- ACTCTTCCCATTCCAGAGAATC -3'
Sequencing Primer
(F):5'- CACCTGAGGAACCATGAATTAATAG -3'
(R):5'- CCCATTCCAGAGAATCACTTTTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation