Incidental Mutation 'R8793:Tars3'
| ID |
671052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars3
|
| Ensembl Gene |
ENSMUSG00000030515 |
| Gene Name |
threonyl-tRNA synthetase 3 |
| Synonyms |
A530046H20Rik, Tarsl2 |
| MMRRC Submission |
068610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R8793 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
65294646-65341839 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to T
at 65294673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032728]
|
| AlphaFold |
Q8BLY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032728
|
| SMART Domains |
Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
C |
3: 59,945,804 (GRCm39) |
D158A |
probably damaging |
Het |
| Acot7 |
G |
A |
4: 152,284,380 (GRCm39) |
V17I |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,375,076 (GRCm39) |
T184A |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,968,221 (GRCm39) |
D619E |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,107,492 (GRCm39) |
F1342L |
probably benign |
Het |
| Arfgef1 |
G |
C |
1: 10,212,832 (GRCm39) |
N1696K |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,218,212 (GRCm39) |
D45G |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,231,254 (GRCm39) |
M456L |
probably benign |
Het |
| Bag5 |
A |
T |
12: 111,677,355 (GRCm39) |
I156N |
possibly damaging |
Het |
| Banp |
T |
A |
8: 122,750,743 (GRCm39) |
V478E |
probably benign |
Het |
| BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,360,784 (GRCm39) |
K1228M |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,958,429 (GRCm39) |
K649E |
probably benign |
Het |
| Cpox |
C |
A |
16: 58,493,708 (GRCm39) |
P226Q |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,594,539 (GRCm39) |
S5P |
unknown |
Het |
| Dock2 |
G |
T |
11: 34,451,215 (GRCm39) |
Q837K |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,187,535 (GRCm39) |
I134T |
probably damaging |
Het |
| Gm2832 |
A |
G |
14: 41,003,726 (GRCm39) |
T186A |
|
Het |
| Gm8246 |
T |
C |
14: 16,984,554 (GRCm39) |
E93G |
probably damaging |
Het |
| Grid2ip |
C |
T |
5: 143,363,396 (GRCm39) |
T463M |
probably damaging |
Het |
| Mael |
G |
A |
1: 166,029,257 (GRCm39) |
R389C |
probably benign |
Het |
| Myo9a |
C |
A |
9: 59,791,850 (GRCm39) |
Q1818K |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,419,704 (GRCm39) |
D963G |
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,856,490 (GRCm39) |
F8L |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,255 (GRCm39) |
S307P |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,678,731 (GRCm39) |
V895E |
probably damaging |
Het |
| Pcna |
T |
C |
2: 132,093,193 (GRCm39) |
T185A |
probably benign |
Het |
| Pip4k2c |
A |
G |
10: 127,042,530 (GRCm39) |
F108L |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,445,614 (GRCm39) |
S497T |
probably damaging |
Het |
| Potefam3b |
G |
A |
8: 21,159,053 (GRCm39) |
V136I |
probably benign |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,887 (GRCm39) |
V653A |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,577,627 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,764,284 (GRCm39) |
V3072E |
probably damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,025,792 (GRCm39) |
|
probably null |
Het |
| Slc27a5 |
A |
C |
7: 12,723,296 (GRCm39) |
L550R |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,956,815 (GRCm39) |
P815S |
probably benign |
Het |
| Tle5 |
T |
C |
10: 81,397,152 (GRCm39) |
|
probably null |
Het |
| Tmem237 |
G |
T |
1: 59,146,613 (GRCm39) |
L337M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,555,506 (GRCm39) |
M30500V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,336,416 (GRCm39) |
F13S |
probably damaging |
Het |
| Ugcg |
A |
C |
4: 59,207,794 (GRCm39) |
K44N |
probably benign |
Het |
| Vmn2r39 |
A |
T |
7: 9,028,149 (GRCm39) |
H407Q |
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 |
|
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 |
|
R8254:Tars3
|
UTSW |
7 |
65,325,809 (GRCm39) |
missense |
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'- AATGATGCCTACCCTTGCC -3'
(R):5'- AATTGGAACCCGCTGAGTGC -3'
Sequencing Primer
(F):5'- GCACAGTTGCCCCGATATG -3'
(R):5'- TGCAGGTCGCGGTTCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation