Incidental Mutation 'R3713:Tars3'
| ID |
259742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars3
|
| Ensembl Gene |
ENSMUSG00000030515 |
| Gene Name |
threonyl-tRNA synthetase 3 |
| Synonyms |
A530046H20Rik, Tarsl2 |
| MMRRC Submission |
040706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R3713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
65294646-65341839 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 65338700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032726]
[ENSMUST00000032728]
[ENSMUST00000065574]
[ENSMUST00000107495]
[ENSMUST00000129166]
[ENSMUST00000143508]
[ENSMUST00000206517]
[ENSMUST00000206934]
[ENSMUST00000206628]
|
| 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 |
probably null
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 |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000127354
|
| 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: ENSMUST00000206934
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206628
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
| Aak1 |
T |
A |
6: 86,932,172 (GRCm39) |
I381N |
probably benign |
Het |
| Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
| Adgrf2 |
A |
G |
17: 43,023,979 (GRCm39) |
V164A |
probably damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,793,297 (GRCm39) |
A1513T |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,235,929 (GRCm39) |
M168T |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,095,374 (GRCm39) |
T196I |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,495,102 (GRCm39) |
E1042G |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,876,508 (GRCm39) |
D8G |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,498,118 (GRCm39) |
T302A |
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,651,183 (GRCm39) |
I110N |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,493,263 (GRCm39) |
S762N |
possibly damaging |
Het |
| Cecr2 |
T |
C |
6: 120,735,221 (GRCm39) |
L819P |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,121,538 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
G |
T |
9: 108,793,508 (GRCm39) |
G1357* |
probably null |
Het |
| Cux1 |
A |
G |
5: 136,594,397 (GRCm39) |
|
probably benign |
Het |
| Cwh43 |
A |
T |
5: 73,595,835 (GRCm39) |
I535F |
probably damaging |
Het |
| Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,534,747 (GRCm39) |
V2081A |
probably benign |
Het |
| Efcab5 |
A |
T |
11: 77,007,008 (GRCm39) |
L872Q |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,344 (GRCm39) |
Y163C |
probably damaging |
Het |
| Fam221a |
T |
C |
6: 49,349,548 (GRCm39) |
Y38H |
probably damaging |
Het |
| Foxred1 |
A |
G |
9: 35,122,186 (GRCm39) |
M1T |
probably null |
Het |
| Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
| Galp |
A |
T |
7: 6,216,836 (GRCm39) |
D72V |
probably damaging |
Het |
| Gm9843 |
A |
G |
16: 76,200,419 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,732,076 (GRCm39) |
Y98H |
probably damaging |
Het |
| Lrrc63 |
T |
G |
14: 75,344,776 (GRCm39) |
Y437S |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,410,576 (GRCm39) |
E448G |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,504,194 (GRCm39) |
H404R |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,973,131 (GRCm39) |
I1045V |
probably benign |
Het |
| Mroh3 |
T |
C |
1: 136,113,714 (GRCm39) |
T692A |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,298,410 (GRCm39) |
F542S |
probably damaging |
Het |
| Napsa |
A |
G |
7: 44,230,852 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
| Neil1 |
A |
T |
9: 57,054,254 (GRCm39) |
V22E |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 23,172,994 (GRCm39) |
I36V |
probably damaging |
Het |
| Nprl3 |
G |
A |
11: 32,205,464 (GRCm39) |
T111I |
probably damaging |
Het |
| Or12k8 |
A |
G |
2: 36,975,517 (GRCm39) |
M81T |
possibly damaging |
Het |
| Or1e26 |
A |
T |
11: 73,479,731 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
| Pald1 |
G |
A |
10: 61,178,144 (GRCm39) |
T624I |
possibly damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,576,786 (GRCm39) |
P388L |
probably damaging |
Het |
| Pcdhga6 |
T |
C |
18: 37,840,976 (GRCm39) |
V232A |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,570,928 (GRCm39) |
I388V |
probably damaging |
Het |
| Phactr2 |
C |
A |
10: 13,264,476 (GRCm39) |
|
probably benign |
Het |
| Prdx5 |
T |
C |
19: 6,885,477 (GRCm39) |
D56G |
probably damaging |
Het |
| Ptprh |
A |
T |
7: 4,574,969 (GRCm39) |
I350N |
probably damaging |
Het |
| Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
| Reln |
A |
G |
5: 22,109,732 (GRCm39) |
V3126A |
probably damaging |
Het |
| Rpl21 |
G |
A |
5: 146,771,847 (GRCm39) |
G59S |
possibly damaging |
Het |
| Rsph6a |
G |
A |
7: 18,791,475 (GRCm39) |
V215M |
probably damaging |
Het |
| Smcp |
T |
C |
3: 92,491,431 (GRCm39) |
K139E |
unknown |
Het |
| Stag1 |
A |
G |
9: 100,771,671 (GRCm39) |
T699A |
probably benign |
Het |
| Tle1 |
G |
T |
4: 72,044,659 (GRCm39) |
H459Q |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,081 (GRCm39) |
N63Y |
probably damaging |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,139 (GRCm39) |
N40S |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,077,648 (GRCm39) |
D1107G |
possibly damaging |
Het |
| Zfp101 |
A |
G |
17: 33,600,880 (GRCm39) |
M292T |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,961,270 (GRCm39) |
C620* |
probably null |
Het |
| Zscan4b |
T |
C |
7: 10,635,818 (GRCm39) |
T170A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTACCACTGTCTCATGACTG -3'
(R):5'- GTGAGATGCTTGAAAACACCC -3'
Sequencing Primer
(F):5'- TGTCACCCTGAGAAAGCTCTG -3'
(R):5'- TTAAGGACACGGTTCTAACACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation