Incidental Mutation 'R8681:Tars2'
| ID |
661730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tars2
|
| Ensembl Gene |
ENSMUSG00000028107 |
| Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
| Synonyms |
Tarsl1, 2610024N01Rik |
| MMRRC Submission |
068536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 95658199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 209
(Q209*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000163530]
[ENSMUST00000195929]
[ENSMUST00000196077]
[ENSMUST00000196868]
[ENSMUST00000197501]
[ENSMUST00000197720]
[ENSMUST00000198289]
[ENSMUST00000199464]
[ENSMUST00000199570]
|
| AlphaFold |
Q3UQ84 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029752
AA Change: Q209*
|
| SMART Domains |
Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107
AA Change: Q209*
| 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 null
Transcript: ENSMUST00000074339
AA Change: Q209*
|
| SMART Domains |
Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107
AA Change: Q209*
| 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 null
Transcript: ENSMUST00000098857
AA Change: Q209*
|
| SMART Domains |
Protein: ENSMUSP00000096456
Gene: ENSMUSG00000028107
AA Change: Q209*
| 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: 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 |
probably benign
Transcript: ENSMUST00000195929
|
| SMART Domains |
Protein: ENSMUSP00000143757
Gene: ENSMUSG00000028107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_SAD
|
1 |
28 |
3.2e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196077
AA Change: Q208*
|
| SMART Domains |
Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107
AA Change: Q208*
| 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: ENSMUST00000196868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197720
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198289
|
| SMART Domains |
Protein: ENSMUSP00000143271
Gene: ENSMUSG00000028107
| Domain | Start | End | E-Value | Type |
|---|
|
tRNA_SAD
|
2 |
43 |
2.6e-8 |
SMART |
|
Pfam:tRNA-synt_2b
|
97 |
142 |
6.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199464
AA Change: S167L
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107
AA Change: S167L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
66 |
126 |
1.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199570
|
| SMART Domains |
Protein: ENSMUSP00000143038
Gene: ENSMUSG00000028107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGS
|
66 |
126 |
1.5e-13 |
PFAM |
|
tRNA_SAD
|
152 |
201 |
8.5e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,231,908 (GRCm39) |
V1347A |
possibly damaging |
Het |
| Adam32 |
G |
A |
8: 25,327,811 (GRCm39) |
T750I |
unknown |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,817,899 (GRCm39) |
D438G |
probably null |
Het |
| Anks1b |
T |
A |
10: 89,885,868 (GRCm39) |
M188K |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,338,373 (GRCm39) |
F583S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,439,074 (GRCm39) |
Y477C |
unknown |
Het |
| Cep112 |
T |
C |
11: 108,316,478 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,406 (GRCm39) |
V422A |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,038,600 (GRCm39) |
L1050P |
probably damaging |
Het |
| Col23a1 |
A |
T |
11: 51,458,756 (GRCm39) |
T298S |
possibly damaging |
Het |
| Cyp26c1 |
A |
T |
19: 37,675,065 (GRCm39) |
T129S |
probably damaging |
Het |
| Cyp2c38 |
A |
C |
19: 39,390,135 (GRCm39) |
V355G |
possibly damaging |
Het |
| Cyp4a30b |
G |
A |
4: 115,314,942 (GRCm39) |
V175M |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,886,913 (GRCm39) |
Y67* |
probably null |
Het |
| Dll3 |
T |
C |
7: 27,994,270 (GRCm39) |
D389G |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,265,830 (GRCm39) |
F146L |
probably benign |
Het |
| Gm10118 |
C |
T |
10: 63,762,756 (GRCm39) |
V61M |
unknown |
Het |
| Gm9611 |
T |
C |
14: 42,118,026 (GRCm39) |
D102G |
|
Het |
| Grik5 |
G |
A |
7: 24,709,897 (GRCm39) |
A946V |
probably benign |
Het |
| Il17c |
A |
G |
8: 123,150,207 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ino80e |
A |
G |
7: 126,460,893 (GRCm39) |
L22P |
probably damaging |
Het |
| Kcnh2 |
G |
T |
5: 24,536,981 (GRCm39) |
T201K |
probably benign |
Het |
| Klrb1 |
A |
C |
6: 128,687,012 (GRCm39) |
N173K |
possibly damaging |
Het |
| Kmt2d |
T |
A |
15: 98,743,948 (GRCm39) |
Q3737H |
unknown |
Het |
| Lemd3 |
T |
C |
10: 120,767,728 (GRCm39) |
D682G |
possibly damaging |
Het |
| Lilra5 |
T |
C |
7: 4,241,216 (GRCm39) |
V51A |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,070,314 (GRCm39) |
V32I |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,754,360 (GRCm39) |
M403L |
probably benign |
Het |
| Mms19 |
G |
A |
19: 41,937,915 (GRCm39) |
L765F |
probably damaging |
Het |
| Msx3 |
T |
A |
7: 139,628,900 (GRCm39) |
T5S |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,242,960 (GRCm39) |
I958L |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 113,021,429 (GRCm39) |
|
probably null |
Het |
| Myo9a |
G |
A |
9: 59,775,394 (GRCm39) |
V1002I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,127,048 (GRCm39) |
K379R |
probably damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,473,208 (GRCm39) |
S216G |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,263 (GRCm39) |
E246G |
probably damaging |
Het |
| Or11h7 |
A |
T |
14: 50,890,801 (GRCm39) |
M36L |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pkp2 |
A |
T |
16: 16,048,545 (GRCm39) |
M317L |
probably benign |
Het |
| Pogz |
T |
A |
3: 94,768,234 (GRCm39) |
H137Q |
probably damaging |
Het |
| Prrx2 |
G |
T |
2: 30,735,519 (GRCm39) |
D25Y |
unknown |
Het |
| Ptprf |
T |
C |
4: 118,088,844 (GRCm39) |
D653G |
probably benign |
Het |
| Rps6kl1 |
T |
A |
12: 85,194,629 (GRCm39) |
E94V |
probably damaging |
Het |
| Slc44a1 |
A |
T |
4: 53,481,510 (GRCm39) |
D27V |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,147,253 (GRCm39) |
I549V |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,361,914 (GRCm39) |
T302A |
probably benign |
Het |
| Spic |
T |
A |
10: 88,511,847 (GRCm39) |
K136N |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,392 (GRCm39) |
L473P |
probably damaging |
Het |
| Syce1 |
G |
A |
7: 140,361,987 (GRCm39) |
T32I |
possibly damaging |
Het |
| Tmem9b |
A |
G |
7: 109,344,527 (GRCm39) |
V100A |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,128 (GRCm39) |
I131V |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,001,877 (GRCm39) |
T54I |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,747 (GRCm39) |
E1016G |
probably damaging |
Het |
| Zfp773 |
T |
C |
7: 7,139,482 (GRCm39) |
T56A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTTCTTCCCTCTTGACAAGG -3'
(R):5'- CAGATTTGTCAAAGGTCAGGAC -3'
Sequencing Primer
(F):5'- AGGCTCACCCATACACTGTTG -3'
(R):5'- GTCAAAGGTCAGGACTTTACTCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation