Incidental Mutation 'R9461:Tars3'
ID |
714866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars3
|
Ensembl Gene |
ENSMUSG00000030515 |
Gene Name |
threonyl-tRNA synthetase 3 |
Synonyms |
A530046H20Rik, Tarsl2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R9461 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
65294646-65341839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65339719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 705
(S705P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032726]
[ENSMUST00000032728]
[ENSMUST00000065574]
[ENSMUST00000107495]
[ENSMUST00000129166]
[ENSMUST00000143508]
[ENSMUST00000206517]
[ENSMUST00000206628]
[ENSMUST00000206934]
|
AlphaFold |
Q8BLY2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032726
|
SMART Domains |
Protein: ENSMUSP00000032726 Gene: ENSMUSG00000078681
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
Pfam:TM2
|
165 |
214 |
5.1e-17 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032728
AA Change: S705P
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000032728 Gene: ENSMUSG00000030515 AA Change: S705P
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 |
probably benign
Transcript: ENSMUST00000065574
|
SMART Domains |
Protein: ENSMUSP00000064967 Gene: ENSMUSG00000078681
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
Pfam:TM2
|
196 |
245 |
6.3e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107495
|
SMART Domains |
Protein: ENSMUSP00000103119 Gene: ENSMUSG00000078681
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
Pfam:TM2
|
196 |
245 |
5e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129166
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143508
|
SMART Domains |
Protein: ENSMUSP00000116848 Gene: ENSMUSG00000078681
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206361
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206517
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206628
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206837
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206934
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Abhd18 |
A |
T |
3: 40,859,319 (GRCm39) |
|
probably null |
Het |
Aox1 |
G |
A |
1: 58,116,736 (GRCm39) |
|
probably null |
Het |
Arpp21 |
C |
A |
9: 111,965,704 (GRCm39) |
R422L |
probably damaging |
Het |
Ccdc190 |
G |
A |
1: 169,761,489 (GRCm39) |
G197D |
probably benign |
Het |
Cdc42bpa |
G |
T |
1: 179,969,861 (GRCm39) |
L1243F |
probably damaging |
Het |
Ces2b |
T |
A |
8: 105,564,011 (GRCm39) |
F462I |
probably benign |
Het |
Cfap45 |
A |
G |
1: 172,362,894 (GRCm39) |
E295G |
possibly damaging |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,186,879 (GRCm39) |
E1227* |
probably null |
Het |
Col5a1 |
A |
T |
2: 27,922,616 (GRCm39) |
D1717V |
unknown |
Het |
Dab2 |
T |
C |
15: 6,460,435 (GRCm39) |
S448P |
possibly damaging |
Het |
Dnajb1 |
T |
C |
8: 84,335,173 (GRCm39) |
|
probably null |
Het |
Dock9 |
C |
T |
14: 121,842,601 (GRCm39) |
G1223D |
probably benign |
Het |
Elp2 |
A |
G |
18: 24,765,869 (GRCm39) |
R670G |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,994,668 (GRCm39) |
I738V |
probably benign |
Het |
Gas2l2 |
T |
A |
11: 83,313,031 (GRCm39) |
R760S |
probably damaging |
Het |
H1f7 |
C |
T |
15: 98,155,138 (GRCm39) |
A4T |
probably damaging |
Het |
Kif17 |
G |
A |
4: 138,005,253 (GRCm39) |
V273I |
probably damaging |
Het |
Klhdc4 |
T |
C |
8: 122,526,224 (GRCm39) |
D336G |
probably damaging |
Het |
Lmod2 |
A |
G |
6: 24,603,568 (GRCm39) |
N181S |
probably benign |
Het |
Lrp8 |
G |
A |
4: 107,700,515 (GRCm39) |
G151D |
possibly damaging |
Het |
Mb21d2 |
C |
T |
16: 28,647,261 (GRCm39) |
V238M |
probably damaging |
Het |
Mfsd4b3-ps |
T |
G |
10: 39,823,247 (GRCm39) |
I338L |
probably benign |
Het |
Nkain2 |
C |
T |
10: 32,766,125 (GRCm39) |
A112T |
unknown |
Het |
Or14c41 |
T |
A |
7: 86,235,247 (GRCm39) |
Y255N |
possibly damaging |
Het |
Or52n2b |
T |
A |
7: 104,565,583 (GRCm39) |
I307F |
probably benign |
Het |
Or5b12b |
T |
A |
19: 12,861,875 (GRCm39) |
V210E |
possibly damaging |
Het |
Or5i1 |
A |
G |
2: 87,612,883 (GRCm39) |
I2V |
probably benign |
Het |
Pacs2 |
A |
G |
12: 113,010,727 (GRCm39) |
I126V |
probably benign |
Het |
Phyhipl |
T |
C |
10: 70,395,243 (GRCm39) |
Y321C |
possibly damaging |
Het |
Ppm1k |
T |
C |
6: 57,487,720 (GRCm39) |
S368G |
probably damaging |
Het |
Ranbp6 |
T |
C |
19: 29,787,163 (GRCm39) |
D1063G |
possibly damaging |
Het |
Sars2 |
T |
C |
7: 28,449,438 (GRCm39) |
M322T |
probably benign |
Het |
Serbp1 |
G |
A |
6: 67,244,313 (GRCm39) |
R78H |
probably benign |
Het |
Sfxn2 |
T |
A |
19: 46,574,192 (GRCm39) |
N127K |
probably damaging |
Het |
Sgsm1 |
A |
T |
5: 113,423,898 (GRCm39) |
|
probably null |
Het |
Slc22a22 |
T |
C |
15: 57,108,342 (GRCm39) |
Y491C |
probably damaging |
Het |
Slc22a22 |
T |
A |
15: 57,127,052 (GRCm39) |
I6F |
probably damaging |
Het |
Smpd1 |
C |
T |
7: 105,204,789 (GRCm39) |
L223F |
probably damaging |
Het |
Spem1 |
T |
C |
11: 69,711,741 (GRCm39) |
K308E |
probably benign |
Het |
Spsb1 |
A |
T |
4: 149,990,907 (GRCm39) |
C220* |
probably null |
Het |
Syngap1 |
T |
A |
17: 27,173,962 (GRCm39) |
S190R |
possibly damaging |
Het |
Tbc1d16 |
G |
T |
11: 119,044,781 (GRCm39) |
F553L |
probably damaging |
Het |
Thbs2 |
A |
G |
17: 14,910,435 (GRCm39) |
Y55H |
probably damaging |
Het |
Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
Tut7 |
G |
A |
13: 59,963,512 (GRCm39) |
T282I |
probably damaging |
Het |
Txnl1 |
T |
C |
18: 63,810,050 (GRCm39) |
N131S |
probably benign |
Het |
Vat1 |
T |
C |
11: 101,353,846 (GRCm39) |
T175A |
possibly damaging |
Het |
Veph1 |
T |
A |
3: 66,029,066 (GRCm39) |
D651V |
probably benign |
Het |
Zfp281 |
T |
A |
1: 136,554,500 (GRCm39) |
S493T |
probably benign |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
R9162:Tars3
|
UTSW |
7 |
65,332,518 (GRCm39) |
missense |
probably benign |
0.01 |
R9200:Tars3
|
UTSW |
7 |
65,302,013 (GRCm39) |
missense |
probably benign |
|
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'- ACTGTGTGGTTGCTTCTCAC -3'
(R):5'- TGGCCTTTGTGTAAACCCC -3'
Sequencing Primer
(F):5'- ATGCCCTCCAGAGCAAGG -3'
(R):5'- GCCTTTGTGTAAACCCCCAAGC -3'
|
Posted On |
2022-06-15 |