Incidental Mutation 'IGL02370:Tars3'
| ID |
290905 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tars3
|
| Ensembl Gene |
ENSMUSG00000030515 |
| Gene Name |
threonyl-tRNA synthetase 3 |
| Synonyms |
A530046H20Rik, Tarsl2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
IGL02370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
65294646-65341839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 65310913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 314
(P314Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032728]
|
| AlphaFold |
Q8BLY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032728
AA Change: P314Q
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515
AA Change: P314Q
| 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: ENSMUST00000206323
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732471J01Rik |
T |
C |
7: 25,084,313 (GRCm39) |
|
probably benign |
Het |
| Abra |
T |
C |
15: 41,732,640 (GRCm39) |
D142G |
probably damaging |
Het |
| Aldh9a1 |
A |
G |
1: 167,184,101 (GRCm39) |
N199D |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,753,933 (GRCm39) |
I1130N |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,013,085 (GRCm39) |
I312V |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,541 (GRCm39) |
M367V |
possibly damaging |
Het |
| Clec12a |
C |
T |
6: 129,331,539 (GRCm39) |
A160V |
possibly damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,460,389 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,899,565 (GRCm39) |
M976K |
probably benign |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,543 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,757,852 (GRCm39) |
L226Q |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,674,556 (GRCm39) |
V407A |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,624,937 (GRCm39) |
S201P |
probably damaging |
Het |
| Exoc3 |
A |
T |
13: 74,340,880 (GRCm39) |
V308D |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,856,871 (GRCm39) |
|
probably benign |
Het |
| Hnf1b |
A |
C |
11: 83,773,559 (GRCm39) |
T253P |
possibly damaging |
Het |
| Inhca |
A |
G |
9: 103,140,273 (GRCm39) |
V482A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,191,786 (GRCm39) |
Y107F |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,159 (GRCm39) |
N677S |
probably benign |
Het |
| Knstrn |
T |
A |
2: 118,654,269 (GRCm39) |
|
probably null |
Het |
| Lin9 |
G |
T |
1: 180,515,583 (GRCm39) |
C451F |
probably damaging |
Het |
| Mast1 |
A |
C |
8: 85,638,883 (GRCm39) |
V1482G |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,497,390 (GRCm39) |
F144L |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,191,504 (GRCm39) |
N945D |
probably benign |
Het |
| Nfrkb |
G |
A |
9: 31,300,308 (GRCm39) |
G33D |
probably benign |
Het |
| Or5m9b |
C |
A |
2: 85,905,132 (GRCm39) |
T16K |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,116,886 (GRCm39) |
I297M |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,645 (GRCm39) |
|
probably null |
Het |
| Pitpnm3 |
A |
G |
11: 71,942,684 (GRCm39) |
Y868H |
probably benign |
Het |
| Pou2f3 |
G |
A |
9: 43,048,643 (GRCm39) |
R266W |
probably damaging |
Het |
| Rcn3 |
T |
C |
7: 44,732,757 (GRCm39) |
S304G |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,494,397 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
C |
15: 32,682,445 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,207,008 (GRCm39) |
L565P |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,734,826 (GRCm39) |
I656T |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,920,752 (GRCm39) |
K2404R |
probably damaging |
Het |
| Tbc1d14 |
C |
T |
5: 36,652,562 (GRCm39) |
V627I |
possibly damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,354 (GRCm39) |
D124G |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,410,185 (GRCm39) |
V394D |
probably damaging |
Het |
| Trerf1 |
C |
T |
17: 47,625,387 (GRCm39) |
|
noncoding transcript |
Het |
| Ucp2 |
A |
G |
7: 100,147,591 (GRCm39) |
N190S |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,284,453 (GRCm39) |
Q498R |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,969,221 (GRCm39) |
I4N |
probably damaging |
Het |
| Zfp574 |
T |
G |
7: 24,779,014 (GRCm39) |
I12S |
possibly damaging |
Het |
| Zscan29 |
T |
A |
2: 120,994,314 (GRCm39) |
E522V |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation