Incidental Mutation 'R6160:Tars3'
ID |
489808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars3
|
Ensembl Gene |
ENSMUSG00000030515 |
Gene Name |
threonyl-tRNA synthetase 3 |
Synonyms |
A530046H20Rik, Tarsl2 |
MMRRC Submission |
044307-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R6160 (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 65332527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 543
(I543V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032728]
|
AlphaFold |
Q8BLY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032728
AA Change: I543V
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000032728 Gene: ENSMUSG00000030515 AA Change: I543V
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 |
0.0870 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
94% (62/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,642,950 (GRCm39) |
S297R |
possibly damaging |
Het |
5530400C23Rik |
A |
G |
6: 133,271,289 (GRCm39) |
E111G |
possibly damaging |
Het |
8030423J24Rik |
T |
A |
13: 71,032,029 (GRCm39) |
S34T |
unknown |
Het |
Ace3 |
T |
A |
11: 105,885,558 (GRCm39) |
W20R |
possibly damaging |
Het |
Adgrf1 |
A |
G |
17: 43,621,578 (GRCm39) |
E605G |
probably damaging |
Het |
Arhgap44 |
G |
A |
11: 65,053,375 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
C |
9: 53,402,259 (GRCm39) |
H1404Q |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,811,306 (GRCm39) |
E53G |
probably damaging |
Het |
Bhmt1b |
G |
A |
18: 87,775,245 (GRCm39) |
C256Y |
probably damaging |
Het |
Cdt1 |
C |
T |
8: 123,298,107 (GRCm39) |
T366I |
probably benign |
Het |
Cerk |
A |
T |
15: 86,026,974 (GRCm39) |
C179S |
probably benign |
Het |
Cldn10 |
T |
C |
14: 119,099,255 (GRCm39) |
V123A |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,751,604 (GRCm39) |
K726E |
possibly damaging |
Het |
Dcaf12 |
A |
T |
4: 41,294,043 (GRCm39) |
Y365N |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,073,024 (GRCm39) |
L171P |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,583,290 (GRCm39) |
V91I |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,972,387 (GRCm39) |
I1431V |
probably benign |
Het |
Egln1 |
T |
C |
8: 125,675,231 (GRCm39) |
D188G |
probably damaging |
Het |
Enpp5 |
T |
A |
17: 44,392,259 (GRCm39) |
N229K |
possibly damaging |
Het |
Fmo1 |
T |
G |
1: 162,663,867 (GRCm39) |
I221L |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,818,289 (GRCm39) |
W4674* |
probably null |
Het |
Gm12185 |
G |
A |
11: 48,799,255 (GRCm39) |
Q413* |
probably null |
Het |
Gm7298 |
A |
T |
6: 121,741,886 (GRCm39) |
H436L |
probably benign |
Het |
Gucy2c |
G |
A |
6: 136,717,684 (GRCm39) |
Q430* |
probably null |
Het |
Hgd |
A |
G |
16: 37,433,660 (GRCm39) |
H134R |
probably damaging |
Het |
Hoxd8 |
A |
G |
2: 74,536,343 (GRCm39) |
E151G |
probably damaging |
Het |
Il15ra |
A |
G |
2: 11,724,827 (GRCm39) |
D99G |
probably damaging |
Het |
Ints4 |
T |
A |
7: 97,158,790 (GRCm39) |
|
probably null |
Het |
Itgb1 |
T |
A |
8: 129,446,764 (GRCm39) |
F426L |
possibly damaging |
Het |
Itpr1 |
A |
C |
6: 108,495,716 (GRCm39) |
I2534L |
probably benign |
Het |
Kcnq4 |
T |
A |
4: 120,573,756 (GRCm39) |
H235L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,782,395 (GRCm39) |
I178N |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,047,310 (GRCm39) |
D252G |
probably damaging |
Het |
Krt23 |
A |
G |
11: 99,376,544 (GRCm39) |
I204T |
probably damaging |
Het |
Lipo4 |
A |
G |
19: 33,480,693 (GRCm39) |
L225P |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,903,548 (GRCm39) |
D245G |
possibly damaging |
Het |
Mmp16 |
A |
G |
4: 18,051,857 (GRCm39) |
D282G |
probably damaging |
Het |
Myo1c |
A |
T |
11: 75,541,568 (GRCm39) |
H18L |
probably benign |
Het |
Myo1f |
C |
A |
17: 33,823,318 (GRCm39) |
P981Q |
probably benign |
Het |
Nle1 |
A |
T |
11: 82,798,983 (GRCm39) |
F33I |
probably benign |
Het |
Nlrp4e |
T |
G |
7: 23,020,731 (GRCm39) |
M406R |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,942,611 (GRCm39) |
V4857E |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,727,643 (GRCm39) |
|
probably null |
Het |
Phospho1 |
A |
T |
11: 95,721,450 (GRCm39) |
E22V |
probably damaging |
Het |
Pom121l2 |
C |
T |
13: 22,167,838 (GRCm39) |
S703L |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,064,075 (GRCm39) |
L20P |
probably damaging |
Het |
Psmb7 |
T |
C |
2: 38,533,393 (GRCm39) |
T45A |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,320,376 (GRCm39) |
I532T |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,222,362 (GRCm39) |
D208G |
probably damaging |
Het |
Recql5 |
A |
G |
11: 115,823,613 (GRCm39) |
|
probably null |
Het |
Resf1 |
G |
A |
6: 149,233,005 (GRCm39) |
|
probably null |
Het |
Rfc4 |
A |
T |
16: 22,933,433 (GRCm39) |
I242N |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,503,235 (GRCm39) |
Y650C |
probably damaging |
Het |
Shc2 |
C |
T |
10: 79,462,853 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,202,190 (GRCm39) |
|
probably null |
Het |
Slc6a6 |
A |
T |
6: 91,716,995 (GRCm39) |
|
probably null |
Het |
Synj2 |
C |
A |
17: 6,058,336 (GRCm39) |
H275N |
possibly damaging |
Het |
T |
A |
T |
17: 8,660,618 (GRCm39) |
T410S |
probably benign |
Het |
Tbc1d8 |
T |
A |
1: 39,411,484 (GRCm39) |
K1117N |
probably damaging |
Het |
Tm7sf3 |
A |
T |
6: 146,507,787 (GRCm39) |
L425* |
probably null |
Het |
Trav14-3 |
A |
G |
14: 54,000,978 (GRCm39) |
Y63C |
probably damaging |
Het |
Tyro3 |
A |
C |
2: 119,633,751 (GRCm39) |
D133A |
probably damaging |
Het |
Vmn1r119 |
T |
G |
7: 20,745,740 (GRCm39) |
H214P |
possibly damaging |
Het |
Vmn2r120 |
G |
A |
17: 57,816,418 (GRCm39) |
P646S |
probably benign |
Het |
Zbtb7c |
A |
T |
18: 76,278,904 (GRCm39) |
Y454F |
probably benign |
Het |
Zmym2 |
T |
C |
14: 57,187,766 (GRCm39) |
L1144P |
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 |
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'- ACCTCCTGGTGTTAAAATCAGG -3'
(R):5'- AGTTTAAACCCCAAGACGTGC -3'
Sequencing Primer
(F):5'- AAGAGCACTGCTGTTCTTGCAAG -3'
(R):5'- CCAAGACGTGCGGTTTCGTG -3'
|
Posted On |
2017-10-10 |