Incidental Mutation 'R8756:Tars2'
| ID |
664155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars2
|
| Ensembl Gene |
ENSMUSG00000028107 |
| Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
| Synonyms |
Tarsl1, 2610024N01Rik |
| MMRRC Submission |
068597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R8756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95648672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 662
(V662A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000029753]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000117507]
[ENSMUST00000123143]
[ENSMUST00000128885]
[ENSMUST00000131376]
[ENSMUST00000137912]
[ENSMUST00000147217]
[ENSMUST00000153026]
[ENSMUST00000163530]
[ENSMUST00000196077]
[ENSMUST00000199464]
|
| AlphaFold |
Q3UQ84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029752
AA Change: V662A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: V662A
| 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
AA Change: V636A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: V636A
| 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: 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: 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: 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: ENSMUST00000147217
|
| SMART Domains |
Protein: ENSMUSP00000115524
Gene: ENSMUSG00000028108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECM1
|
1 |
80 |
5.2e-40 |
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: ENSMUST00000163530
AA Change: V581A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107
AA Change: V581A
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| Antxr1 |
A |
T |
6: 87,165,235 (GRCm39) |
S401T |
probably damaging |
Het |
| Armh1 |
T |
A |
4: 117,094,861 (GRCm39) |
I60L |
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,342,439 (GRCm39) |
V370A |
probably damaging |
Het |
| Atraid |
T |
A |
5: 31,211,385 (GRCm39) |
Y184N |
probably damaging |
Het |
| Cp |
G |
C |
3: 20,059,736 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
G |
16: 3,903,767 (GRCm39) |
I1824T |
probably benign |
Het |
| Cyp2c65 |
A |
T |
19: 39,049,552 (GRCm39) |
R27* |
probably null |
Het |
| Dtl |
T |
C |
1: 191,271,371 (GRCm39) |
H725R |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,583,261 (GRCm39) |
A453S |
probably benign |
Het |
| Fat3 |
T |
A |
9: 16,287,885 (GRCm39) |
D546V |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,576,224 (GRCm39) |
T595A |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,226,090 (GRCm39) |
P179S |
possibly damaging |
Het |
| Hoga1 |
A |
G |
19: 42,048,716 (GRCm39) |
I145V |
probably benign |
Het |
| Igfn1 |
G |
T |
1: 135,895,698 (GRCm39) |
Q1623K |
probably benign |
Het |
| Jsrp1 |
T |
A |
10: 80,647,940 (GRCm39) |
|
probably null |
Het |
| Krt90 |
A |
C |
15: 101,470,779 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
T |
A |
16: 32,808,810 (GRCm39) |
S514T |
probably benign |
Het |
| Mad2l1 |
T |
C |
6: 66,512,569 (GRCm39) |
V20A |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 15,757,706 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
C |
15: 34,423,876 (GRCm39) |
E578A |
possibly damaging |
Het |
| Myof |
A |
T |
19: 37,928,400 (GRCm39) |
W1050R |
probably benign |
Het |
| Nemp1 |
T |
A |
10: 127,528,845 (GRCm39) |
I183N |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,683,386 (GRCm39) |
T1155A |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,461,506 (GRCm39) |
S2681P |
probably benign |
Het |
| Onecut3 |
C |
A |
10: 80,349,750 (GRCm39) |
R415S |
probably damaging |
Het |
| Or2d2 |
T |
C |
7: 106,728,019 (GRCm39) |
T194A |
probably benign |
Het |
| Or4s2 |
T |
A |
2: 88,473,183 (GRCm39) |
V24E |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,764,398 (GRCm39) |
S1005R |
|
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,073 (GRCm39) |
V357M |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,996,359 (GRCm39) |
Y242H |
probably damaging |
Het |
| Slit2 |
G |
T |
5: 48,459,829 (GRCm39) |
E1370* |
probably null |
Het |
| Sos2 |
C |
A |
12: 69,695,310 (GRCm39) |
L142F |
probably damaging |
Het |
| Spag4 |
T |
C |
2: 155,908,493 (GRCm39) |
L141P |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,222,444 (GRCm39) |
L570P |
probably damaging |
Het |
| Tmem245 |
C |
A |
4: 56,899,025 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
T |
A |
1: 43,999,295 (GRCm39) |
Y356* |
probably null |
Het |
| Trafd1 |
T |
C |
5: 121,513,878 (GRCm39) |
E303G |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,605 (GRCm39) |
E559G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,644,141 (GRCm39) |
V4501E |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,342,465 (GRCm39) |
T118A |
probably damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,294,094 (GRCm39) |
H727L |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,920,551 (GRCm39) |
V270E |
probably damaging |
Het |
| Zfp112 |
T |
C |
7: 23,824,997 (GRCm39) |
S326P |
probably benign |
Het |
| Zfp37 |
T |
C |
4: 62,110,371 (GRCm39) |
D272G |
possibly 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 |
|
IGL02709:Tars2
|
APN |
3 |
95,649,383 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTAGTCAGGCTCCTACCC -3'
(R):5'- AGGAGGCCTCAGTATCTCAGAG -3'
Sequencing Primer
(F):5'- CAGCCCAGGTAATGAGTCC -3'
(R):5'- AGTTAGCCAGCTCCTGAGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation