Incidental Mutation 'R5208:Tars2'
ID |
402140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars2
|
Ensembl Gene |
ENSMUSG00000028107 |
Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
Synonyms |
Tarsl1, 2610024N01Rik |
MMRRC Submission |
042783-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R5208 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95654905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 128
(W128R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143271
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000163530]
[ENSMUST00000195929]
[ENSMUST00000196077]
[ENSMUST00000198289]
[ENSMUST00000199570]
[ENSMUST00000199464]
[ENSMUST00000196868]
[ENSMUST00000197720]
|
AlphaFold |
Q3UQ84 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029752
AA Change: W367R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029752 Gene: ENSMUSG00000028107 AA Change: W367R
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 damaging
Transcript: ENSMUST00000074339
AA Change: W367R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073946 Gene: ENSMUSG00000028107 AA Change: W367R
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 damaging
Transcript: ENSMUST00000163530
AA Change: W286R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130269 Gene: ENSMUSG00000028107 AA Change: W286R
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 damaging
Transcript: ENSMUST00000195929
AA Change: W79R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143757 Gene: ENSMUSG00000028107 AA Change: W79R
Domain | Start | End | E-Value | Type |
Pfam:tRNA_SAD
|
1 |
28 |
3.2e-9 |
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 |
noncoding transcript
Transcript: ENSMUST00000196475
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198289
AA Change: W128R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143271 Gene: ENSMUSG00000028107 AA Change: W128R
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 |
noncoding transcript
Transcript: ENSMUST00000197389
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199869
|
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 |
|
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 |
probably benign
Transcript: ENSMUST00000196868
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197720
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,344,398 (GRCm39) |
N58I |
probably benign |
Het |
Adgra3 |
T |
C |
5: 50,168,857 (GRCm39) |
D163G |
probably damaging |
Het |
Alcam |
C |
A |
16: 52,115,411 (GRCm39) |
E236* |
probably null |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Aplf |
G |
T |
6: 87,619,008 (GRCm39) |
|
probably null |
Het |
Arl4a |
A |
T |
12: 40,086,744 (GRCm39) |
M1K |
probably null |
Het |
Asic4 |
A |
G |
1: 75,427,870 (GRCm39) |
D132G |
probably damaging |
Het |
Bbs12 |
T |
C |
3: 37,374,422 (GRCm39) |
I290T |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,008,865 (GRCm39) |
S290P |
probably benign |
Het |
Bmp6 |
G |
A |
13: 38,653,673 (GRCm39) |
A247T |
probably benign |
Het |
Cadps |
A |
G |
14: 12,457,711 (GRCm38) |
S1057P |
possibly damaging |
Het |
Caprin1 |
A |
C |
2: 103,599,778 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
G |
A |
19: 6,371,750 (GRCm39) |
R1343K |
probably benign |
Het |
Cdk18 |
A |
T |
1: 132,045,218 (GRCm39) |
|
probably null |
Het |
Cenpf |
A |
T |
1: 189,403,243 (GRCm39) |
|
probably null |
Het |
Cfhr1 |
A |
T |
1: 139,484,068 (GRCm39) |
|
probably null |
Het |
Chn2 |
A |
T |
6: 54,272,786 (GRCm39) |
I201F |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,673,129 (GRCm39) |
D175G |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dnah3 |
C |
G |
7: 119,631,861 (GRCm39) |
D1365H |
probably damaging |
Het |
Efcab8 |
T |
A |
2: 153,644,343 (GRCm39) |
Y372* |
probably null |
Het |
Eftud2 |
G |
A |
11: 102,732,011 (GRCm39) |
P768S |
probably damaging |
Het |
Ehmt1 |
A |
C |
2: 24,691,545 (GRCm39) |
S1170A |
probably benign |
Het |
Gdpd4 |
A |
C |
7: 97,664,118 (GRCm39) |
K572Q |
probably benign |
Het |
Gm7356 |
T |
C |
17: 14,221,456 (GRCm39) |
E191G |
probably damaging |
Het |
Gm8674 |
A |
T |
13: 50,055,957 (GRCm39) |
|
noncoding transcript |
Het |
Gulp1 |
T |
G |
1: 44,820,199 (GRCm39) |
H235Q |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,485,418 (GRCm39) |
V202A |
possibly damaging |
Het |
Inpp5b |
G |
A |
4: 124,645,110 (GRCm39) |
D179N |
possibly damaging |
Het |
Kcnk4 |
T |
A |
19: 6,905,069 (GRCm39) |
Y194F |
possibly damaging |
Het |
Lars1 |
A |
C |
18: 42,350,622 (GRCm39) |
S896A |
probably benign |
Het |
Lonp1 |
A |
G |
17: 56,924,793 (GRCm39) |
V538A |
probably damaging |
Het |
Map3k14 |
A |
T |
11: 103,129,972 (GRCm39) |
L315Q |
probably damaging |
Het |
Met |
T |
A |
6: 17,526,422 (GRCm39) |
Y500* |
probably null |
Het |
Mga |
T |
G |
2: 119,778,462 (GRCm39) |
I2093M |
possibly damaging |
Het |
Mpl |
T |
G |
4: 118,313,078 (GRCm39) |
I152L |
probably benign |
Het |
Mthfsd |
G |
A |
8: 121,835,058 (GRCm39) |
|
probably benign |
Het |
Mup4 |
A |
G |
4: 59,958,119 (GRCm39) |
F150L |
probably damaging |
Het |
Mybph |
T |
A |
1: 134,121,273 (GRCm39) |
V11D |
probably benign |
Het |
Or4f54 |
A |
T |
2: 111,122,946 (GRCm39) |
E111V |
probably damaging |
Het |
Or52n2c |
A |
G |
7: 104,574,933 (GRCm39) |
F13L |
probably benign |
Het |
Or5ak20 |
T |
A |
2: 85,184,142 (GRCm39) |
I43F |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,114,854 (GRCm39) |
|
probably null |
Het |
Pex2 |
C |
T |
3: 5,626,428 (GRCm39) |
R127H |
probably benign |
Het |
Pgap3 |
A |
G |
11: 98,288,874 (GRCm39) |
W94R |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,202,467 (GRCm39) |
V14A |
probably benign |
Het |
Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,822,548 (GRCm39) |
Y209C |
probably damaging |
Het |
Scart2 |
C |
A |
7: 139,877,949 (GRCm39) |
A977D |
probably benign |
Het |
Sema4c |
T |
A |
1: 36,589,407 (GRCm39) |
D573V |
probably damaging |
Het |
Setx |
A |
T |
2: 29,056,379 (GRCm39) |
I2192F |
possibly damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Sp4 |
A |
G |
12: 118,263,281 (GRCm39) |
L255P |
probably damaging |
Het |
Spaca7 |
A |
G |
8: 12,636,456 (GRCm39) |
Y94C |
probably damaging |
Het |
Stt3a |
T |
G |
9: 36,657,891 (GRCm39) |
I390L |
possibly damaging |
Het |
Tll1 |
G |
A |
8: 64,504,527 (GRCm39) |
T623M |
probably damaging |
Het |
Tmem129 |
A |
T |
5: 33,812,850 (GRCm39) |
V166E |
probably damaging |
Het |
Tmem200a |
T |
A |
10: 25,870,051 (GRCm39) |
I73F |
probably benign |
Het |
Tnks1bp1 |
T |
C |
2: 84,900,976 (GRCm39) |
M1561T |
probably damaging |
Het |
Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
Zfp142 |
A |
T |
1: 74,610,027 (GRCm39) |
V1153E |
probably benign |
Het |
Zwilch |
T |
C |
9: 64,060,205 (GRCm39) |
I354V |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTTACATTTGGTGACCGTATCC -3'
(R):5'- CTAGGGAGTTGGTCAGCATG -3'
Sequencing Primer
(F):5'- ATTTGGTGACCGTATCCCAGCC -3'
(R):5'- GTTGGTCAGCATGGTATTTAAAAGC -3'
|
Posted On |
2016-07-22 |