Incidental Mutation 'IGL02709:Tars2'
ID |
304511 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tars2
|
Ensembl Gene |
ENSMUSG00000028107 |
Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
Synonyms |
Tarsl1, 2610024N01Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
IGL02709
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 95649383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000029753]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000117507]
[ENSMUST00000123143]
[ENSMUST00000163530]
[ENSMUST00000196077]
[ENSMUST00000199464]
[ENSMUST00000128885]
[ENSMUST00000137912]
[ENSMUST00000153026]
[ENSMUST00000131376]
[ENSMUST00000147217]
|
AlphaFold |
Q3UQ84 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029752
|
SMART Domains |
Protein: ENSMUSP00000029752 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
5.6e-14 |
PFAM |
tRNA_SAD
|
233 |
282 |
1.15e-10 |
SMART |
Pfam:tRNA-synt_2b
|
400 |
608 |
2.4e-32 |
PFAM |
Pfam:HGTP_anticodon
|
620 |
711 |
1.5e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029753
|
SMART Domains |
Protein: ENSMUSP00000029753 Gene: ENSMUSG00000028108
Domain | Start | End | E-Value | Type |
Pfam:ECM1
|
1 |
558 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074339
|
SMART Domains |
Protein: ENSMUSP00000073946 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
1.3e-15 |
PFAM |
tRNA_SAD
|
233 |
282 |
1.15e-10 |
SMART |
Pfam:tRNA-synt_2b
|
336 |
519 |
2.8e-39 |
PFAM |
Pfam:HGTP_anticodon
|
594 |
685 |
5.4e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098857
|
SMART Domains |
Protein: ENSMUSP00000096456 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
6.7e-16 |
PFAM |
tRNA_SAD
|
233 |
282 |
1.15e-10 |
SMART |
SCOP:d1atia2
|
332 |
417 |
2e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117507
|
SMART Domains |
Protein: ENSMUSP00000112665 Gene: ENSMUSG00000028108
Domain | Start | End | E-Value | Type |
Pfam:ECM1
|
1 |
559 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123143
|
SMART Domains |
Protein: ENSMUSP00000120300 Gene: ENSMUSG00000028108
Domain | Start | End | E-Value | Type |
Pfam:ECM1
|
1 |
266 |
4.4e-132 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163530
|
SMART Domains |
Protein: ENSMUSP00000130269 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
2.6e-15 |
PFAM |
tRNA_SAD
|
152 |
201 |
1.15e-10 |
SMART |
Pfam:tRNA-synt_2b
|
255 |
438 |
8.6e-40 |
PFAM |
Pfam:HGTP_anticodon
|
539 |
630 |
1.6e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200376
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196077
|
SMART Domains |
Protein: ENSMUSP00000143722 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
65 |
125 |
5e-13 |
PFAM |
tRNA_SAD
|
232 |
264 |
7.5e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199464
|
SMART Domains |
Protein: ENSMUSP00000143328 Gene: ENSMUSG00000028107
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
1.1e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155815
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197389
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128885
|
SMART Domains |
Protein: ENSMUSP00000120820 Gene: ENSMUSG00000028108
Domain | Start | End | E-Value | Type |
Pfam:ECM1
|
1 |
251 |
1.5e-135 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137912
|
SMART Domains |
Protein: ENSMUSP00000122243 Gene: ENSMUSG00000028108
Domain | Start | End | E-Value | Type |
Pfam:ECM1
|
1 |
140 |
1.8e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153026
|
SMART Domains |
Protein: ENSMUSP00000114747 Gene: ENSMUSG00000028108
Domain | Start | End | E-Value | Type |
Pfam:ECM1
|
1 |
230 |
1.3e-100 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131376
|
SMART Domains |
Protein: ENSMUSP00000114659 Gene: ENSMUSG00000028108
Domain | Start | End | E-Value | Type |
Pfam:ECM1
|
1 |
295 |
4.2e-146 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147217
|
SMART Domains |
Protein: ENSMUSP00000115524 Gene: ENSMUSG00000028108
Domain | Start | End | E-Value | Type |
Pfam:ECM1
|
1 |
80 |
5.2e-40 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
G |
3: 59,654,619 (GRCm39) |
Y151C |
probably damaging |
Het |
Aco1 |
G |
A |
4: 40,180,199 (GRCm39) |
V367M |
possibly damaging |
Het |
Acsm5 |
G |
A |
7: 119,134,041 (GRCm39) |
W274* |
probably null |
Het |
Ago1 |
G |
A |
4: 126,347,433 (GRCm39) |
Q135* |
probably null |
Het |
Bmpr1b |
A |
T |
3: 141,562,314 (GRCm39) |
L291Q |
probably damaging |
Het |
Cdcp1 |
A |
G |
9: 123,002,879 (GRCm39) |
Y731H |
probably damaging |
Het |
Clrn2 |
A |
G |
5: 45,617,495 (GRCm39) |
N122S |
probably damaging |
Het |
Col4a3 |
G |
T |
1: 82,656,833 (GRCm39) |
G751W |
unknown |
Het |
Ctsc |
C |
T |
7: 87,957,347 (GRCm39) |
A294V |
probably damaging |
Het |
Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
Dennd6b |
A |
T |
15: 89,075,125 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,850,809 (GRCm39) |
Y1659* |
probably null |
Het |
Dspp |
A |
C |
5: 104,325,116 (GRCm39) |
D493A |
unknown |
Het |
Dyrk1a |
C |
T |
16: 94,486,102 (GRCm39) |
A445V |
probably benign |
Het |
E030025P04Rik |
C |
A |
11: 109,030,324 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
G |
4: 58,872,699 (GRCm39) |
S201P |
possibly damaging |
Het |
Foxd4 |
T |
C |
19: 24,876,973 (GRCm39) |
H409R |
probably damaging |
Het |
Fubp3 |
A |
G |
2: 31,485,343 (GRCm39) |
|
probably benign |
Het |
Herc1 |
A |
G |
9: 66,404,962 (GRCm39) |
K4511E |
probably damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Map1lc3b |
T |
A |
8: 122,322,768 (GRCm39) |
L82Q |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,578,877 (GRCm39) |
S844T |
possibly damaging |
Het |
Mccc1 |
A |
T |
3: 36,044,888 (GRCm39) |
*85K |
probably null |
Het |
Memo1 |
G |
A |
17: 74,552,027 (GRCm39) |
L90F |
probably damaging |
Het |
Mfrp |
A |
G |
9: 44,014,561 (GRCm39) |
H236R |
probably benign |
Het |
Mmrn1 |
G |
A |
6: 60,950,030 (GRCm39) |
D327N |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,392,697 (GRCm39) |
E3178G |
probably damaging |
Het |
Pcsk9 |
A |
G |
4: 106,304,886 (GRCm39) |
|
probably benign |
Het |
Pros1 |
T |
C |
16: 62,719,308 (GRCm39) |
L110P |
probably damaging |
Het |
Reck |
A |
G |
4: 43,913,791 (GRCm39) |
Y215C |
probably damaging |
Het |
Ripk4 |
T |
C |
16: 97,544,766 (GRCm39) |
D627G |
probably damaging |
Het |
Rnf144a |
G |
T |
12: 26,371,009 (GRCm39) |
H151N |
probably damaging |
Het |
Slc39a9 |
T |
A |
12: 80,713,421 (GRCm39) |
H106Q |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,682,029 (GRCm39) |
|
probably benign |
Het |
Sympk |
T |
G |
7: 18,781,463 (GRCm39) |
H806Q |
probably benign |
Het |
Thap3 |
T |
A |
4: 152,070,169 (GRCm39) |
H75L |
probably damaging |
Het |
Trappc8 |
T |
C |
18: 20,970,235 (GRCm39) |
I918M |
possibly damaging |
Het |
Ube2j2 |
T |
C |
4: 156,041,788 (GRCm39) |
V249A |
probably damaging |
Het |
Ubqln3 |
T |
G |
7: 103,790,543 (GRCm39) |
T516P |
probably benign |
Het |
Unc13c |
A |
G |
9: 73,466,238 (GRCm39) |
S1810P |
probably benign |
Het |
Vmn1r4 |
T |
A |
6: 56,933,524 (GRCm39) |
Y9* |
probably null |
Het |
Vmn1r89 |
T |
A |
7: 12,954,131 (GRCm39) |
M221K |
probably damaging |
Het |
Vmn2r1 |
G |
T |
3: 64,012,355 (GRCm39) |
V739F |
probably benign |
Het |
Vmn2r25 |
C |
T |
6: 123,816,723 (GRCm39) |
R286Q |
possibly damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,325,711 (GRCm39) |
Y110N |
possibly damaging |
Het |
Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
Het |
|
Other mutations in Tars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01604:Tars2
|
APN |
3 |
95,647,590 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02523:Tars2
|
APN |
3 |
95,648,705 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03286:Tars2
|
APN |
3 |
95,662,067 (GRCm39) |
splice site |
probably benign |
|
IGL03348:Tars2
|
APN |
3 |
95,647,580 (GRCm39) |
splice site |
probably null |
|
B6584:Tars2
|
UTSW |
3 |
95,649,462 (GRCm39) |
splice site |
probably null |
|
R0548:Tars2
|
UTSW |
3 |
95,649,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R0657:Tars2
|
UTSW |
3 |
95,655,869 (GRCm39) |
missense |
probably benign |
0.00 |
R1955:Tars2
|
UTSW |
3 |
95,654,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Tars2
|
UTSW |
3 |
95,654,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R2071:Tars2
|
UTSW |
3 |
95,654,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R3025:Tars2
|
UTSW |
3 |
95,654,952 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3962:Tars2
|
UTSW |
3 |
95,662,068 (GRCm39) |
critical splice donor site |
probably null |
|
R4676:Tars2
|
UTSW |
3 |
95,660,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Tars2
|
UTSW |
3 |
95,653,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Tars2
|
UTSW |
3 |
95,654,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R5512:Tars2
|
UTSW |
3 |
95,657,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R5894:Tars2
|
UTSW |
3 |
95,654,964 (GRCm39) |
splice site |
probably null |
|
R5965:Tars2
|
UTSW |
3 |
95,655,464 (GRCm39) |
splice site |
probably null |
|
R6381:Tars2
|
UTSW |
3 |
95,661,799 (GRCm39) |
nonsense |
probably null |
|
R6953:Tars2
|
UTSW |
3 |
95,660,426 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7042:Tars2
|
UTSW |
3 |
95,658,057 (GRCm39) |
missense |
probably benign |
0.00 |
R7648:Tars2
|
UTSW |
3 |
95,658,294 (GRCm39) |
missense |
probably benign |
0.26 |
R7877:Tars2
|
UTSW |
3 |
95,653,401 (GRCm39) |
missense |
probably damaging |
0.99 |
R7946:Tars2
|
UTSW |
3 |
95,657,693 (GRCm39) |
missense |
probably damaging |
0.99 |
R8021:Tars2
|
UTSW |
3 |
95,654,826 (GRCm39) |
missense |
probably benign |
|
R8260:Tars2
|
UTSW |
3 |
95,662,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R8310:Tars2
|
UTSW |
3 |
95,658,271 (GRCm39) |
missense |
probably benign |
0.02 |
R8681:Tars2
|
UTSW |
3 |
95,658,199 (GRCm39) |
nonsense |
probably null |
|
R8697:Tars2
|
UTSW |
3 |
95,653,374 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8756:Tars2
|
UTSW |
3 |
95,648,672 (GRCm39) |
missense |
probably benign |
0.32 |
R9498:Tars2
|
UTSW |
3 |
95,647,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R9653:Tars2
|
UTSW |
3 |
95,655,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Tars2
|
UTSW |
3 |
95,662,077 (GRCm39) |
missense |
probably benign |
0.34 |
|
Posted On |
2015-04-16 |