Incidental Mutation 'R9162:Tars3'
ID |
695780 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars3
|
Ensembl Gene |
ENSMUSG00000030515 |
Gene Name |
threonyl-tRNA synthetase 3 |
Synonyms |
A530046H20Rik, Tarsl2 |
MMRRC Submission |
068943-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R9162 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
65294646-65341839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 65332518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 540
(E540K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032728]
|
AlphaFold |
Q8BLY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032728
AA Change: E540K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000032728 Gene: ENSMUSG00000030515 AA Change: E540K
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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
A |
G |
5: 24,611,732 (GRCm39) |
D516G |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,058,926 (GRCm39) |
M506T |
probably benign |
Het |
Abhd17a |
T |
C |
10: 80,422,577 (GRCm39) |
Y35C |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,311,721 (GRCm39) |
N1326S |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,414,645 (GRCm39) |
Y8H |
probably benign |
Het |
Arsi |
T |
C |
18: 61,050,569 (GRCm39) |
V484A |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,987,883 (GRCm39) |
D2623G |
unknown |
Het |
Cul9 |
A |
C |
17: 46,837,529 (GRCm39) |
D1005E |
probably benign |
Het |
Dchs1 |
A |
C |
7: 105,414,732 (GRCm39) |
V770G |
probably damaging |
Het |
Dcst2 |
C |
A |
3: 89,274,088 (GRCm39) |
S213* |
probably null |
Het |
Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,089,215 (GRCm39) |
T926I |
probably damaging |
Het |
Ext1 |
G |
A |
15: 53,208,504 (GRCm39) |
R86* |
probably null |
Het |
Fat1 |
T |
C |
8: 45,404,352 (GRCm39) |
F368L |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,455,860 (GRCm39) |
C2097R |
probably damaging |
Het |
Git1 |
T |
A |
11: 77,396,331 (GRCm39) |
I565N |
probably benign |
Het |
Gpr22 |
A |
G |
12: 31,758,724 (GRCm39) |
V466A |
probably benign |
Het |
Hacd4 |
T |
A |
4: 88,338,017 (GRCm39) |
T194S |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,445,042 (GRCm39) |
K93R |
possibly damaging |
Het |
Kcnv1 |
T |
C |
15: 44,972,450 (GRCm39) |
S478G |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,759,363 (GRCm39) |
S829G |
probably benign |
Het |
Lnp1 |
A |
T |
16: 56,737,844 (GRCm39) |
H81Q |
possibly damaging |
Het |
Lrp1 |
C |
T |
10: 127,441,368 (GRCm39) |
A252T |
probably benign |
Het |
Msl2 |
T |
C |
9: 100,978,928 (GRCm39) |
V434A |
probably benign |
Het |
Myo1g |
T |
A |
11: 6,460,897 (GRCm39) |
I716F |
probably damaging |
Het |
Or52e19 |
A |
T |
7: 102,958,927 (GRCm39) |
|
probably benign |
Het |
Or56a42-ps1 |
A |
T |
7: 104,777,454 (GRCm39) |
Y53* |
probably null |
Het |
Or5b12 |
A |
T |
19: 12,897,024 (GRCm39) |
Y216* |
probably null |
Het |
Or7e175 |
A |
G |
9: 20,040,457 (GRCm39) |
I6V |
probably benign |
Het |
Pappa |
T |
A |
4: 65,123,040 (GRCm39) |
S792T |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,620,168 (GRCm39) |
S653P |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,601,362 (GRCm39) |
K574R |
probably benign |
Het |
Scyl3 |
C |
A |
1: 163,773,891 (GRCm39) |
Q372K |
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,430,577 (GRCm39) |
D269E |
probably damaging |
Het |
Siah2 |
C |
A |
3: 58,599,104 (GRCm39) |
G45C |
unknown |
Het |
Slc4a11 |
T |
A |
2: 130,534,214 (GRCm39) |
D28V |
possibly damaging |
Het |
Slco1a8 |
T |
A |
6: 141,939,453 (GRCm39) |
E200V |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,528,301 (GRCm39) |
M412K |
probably damaging |
Het |
Spata31e1 |
T |
G |
13: 49,939,310 (GRCm39) |
Q800P |
possibly damaging |
Het |
Spef2 |
T |
G |
15: 9,602,017 (GRCm39) |
N1415T |
unknown |
Het |
Stat6 |
A |
G |
10: 127,487,089 (GRCm39) |
K199E |
probably damaging |
Het |
Syndig1l |
A |
G |
12: 84,727,291 (GRCm39) |
F91S |
probably damaging |
Het |
Tank |
C |
A |
2: 61,480,432 (GRCm39) |
Q324K |
possibly damaging |
Het |
Tial1 |
A |
G |
7: 128,050,415 (GRCm39) |
V70A |
possibly damaging |
Het |
Tmem87b |
C |
T |
2: 128,681,150 (GRCm39) |
T358I |
probably benign |
Het |
Ttyh3 |
G |
A |
5: 140,621,820 (GRCm39) |
A42V |
possibly damaging |
Het |
Xrn1 |
T |
C |
9: 95,915,660 (GRCm39) |
I1261T |
probably benign |
Het |
Zfp229 |
T |
C |
17: 21,964,495 (GRCm39) |
S242P |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,163,361 (GRCm39) |
C638S |
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 |
R8254:Tars3
|
UTSW |
7 |
65,325,809 (GRCm39) |
missense |
probably benign |
|
R8793:Tars3
|
UTSW |
7 |
65,294,673 (GRCm39) |
start gained |
probably benign |
|
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'- TTAAACCCCAAGACGTGCGG -3'
Sequencing Primer
(F):5'- AAGAGCACTGCTGTTCTTGCAAG -3'
(R):5'- CCAAGACGTGCGGTTTCGTG -3'
|
Posted On |
2022-02-07 |