Incidental Mutation 'R7042:Tars2'
ID |
547100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars2
|
Ensembl Gene |
ENSMUSG00000028107 |
Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
Synonyms |
Tarsl1, 2610024N01Rik |
MMRRC Submission |
045141-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R7042 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95658057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 222
(H222Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096456
(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 benign
Transcript: ENSMUST00000029752
AA Change: H222Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029752 Gene: ENSMUSG00000028107 AA Change: H222Q
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: ENSMUST00000074339
AA Change: H222Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000073946 Gene: ENSMUSG00000028107 AA Change: H222Q
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
AA Change: H222Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000096456 Gene: ENSMUSG00000028107 AA Change: H222Q
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
AA Change: H141Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000130269 Gene: ENSMUSG00000028107 AA Change: H141Q
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 benign
Transcript: ENSMUST00000196077
AA Change: H221Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143722 Gene: ENSMUSG00000028107 AA Change: H221Q
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
|
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: ENSMUST00000199570
AA Change: H141Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000143038 Gene: ENSMUSG00000028107 AA Change: H141Q
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
1.5e-13 |
PFAM |
tRNA_SAD
|
152 |
201 |
8.5e-15 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (54/54) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,192,098 (GRCm39) |
S554G |
possibly damaging |
Het |
Adcy7 |
G |
T |
8: 89,042,378 (GRCm39) |
R415L |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,141,759 (GRCm39) |
I1182F |
probably damaging |
Het |
Ccdc7b |
T |
A |
8: 129,811,730 (GRCm39) |
Y147N |
probably benign |
Het |
Clcnka |
A |
G |
4: 141,118,691 (GRCm39) |
I398T |
probably damaging |
Het |
Cst8 |
T |
A |
2: 148,641,796 (GRCm39) |
|
probably null |
Het |
Dcxr |
T |
C |
11: 120,617,841 (GRCm39) |
D45G |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,283,617 (GRCm39) |
M510K |
possibly damaging |
Het |
Dync2i1 |
T |
C |
12: 116,218,061 (GRCm39) |
I182M |
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,882,338 (GRCm39) |
H431Q |
probably damaging |
Het |
Eml4 |
T |
C |
17: 83,768,999 (GRCm39) |
I681T |
probably damaging |
Het |
Etf1 |
T |
C |
18: 35,043,219 (GRCm39) |
N164S |
probably benign |
Het |
Fmo2 |
A |
G |
1: 162,708,226 (GRCm39) |
V303A |
probably damaging |
Het |
Foxl2 |
T |
A |
9: 98,837,715 (GRCm39) |
M1K |
probably null |
Het |
Gm3404 |
A |
T |
5: 146,462,969 (GRCm39) |
E50D |
probably benign |
Het |
Gpr61 |
G |
A |
3: 108,058,647 (GRCm39) |
P5S |
possibly damaging |
Het |
Hcrtr1 |
A |
G |
4: 130,024,653 (GRCm39) |
|
probably benign |
Het |
Ier3ip1 |
T |
A |
18: 77,017,828 (GRCm39) |
F3I |
possibly damaging |
Het |
Ifi206 |
G |
A |
1: 173,308,808 (GRCm39) |
P396L |
|
Het |
Ifi209 |
G |
A |
1: 173,470,236 (GRCm39) |
V275I |
probably benign |
Het |
Ighv1-69 |
T |
C |
12: 115,586,909 (GRCm39) |
S75G |
probably benign |
Het |
Kcnj3 |
A |
T |
2: 55,484,877 (GRCm39) |
H325L |
possibly damaging |
Het |
Klrk1 |
A |
T |
6: 129,593,734 (GRCm39) |
S50T |
possibly damaging |
Het |
Mfsd4b4 |
T |
A |
10: 39,768,514 (GRCm39) |
Y193F |
probably damaging |
Het |
Nlrp5 |
A |
G |
7: 23,116,905 (GRCm39) |
I210V |
possibly damaging |
Het |
Or4p20 |
T |
A |
2: 88,253,746 (GRCm39) |
I208F |
possibly damaging |
Het |
Or5w12 |
A |
T |
2: 87,501,935 (GRCm39) |
Y259N |
possibly damaging |
Het |
Or8b3 |
G |
T |
9: 38,314,196 (GRCm39) |
G6C |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,622 (GRCm39) |
S52G |
possibly damaging |
Het |
Pax6 |
A |
T |
2: 105,526,718 (GRCm39) |
H208L |
probably benign |
Het |
Pgc |
C |
A |
17: 48,044,745 (GRCm39) |
Q331K |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,605,721 (GRCm39) |
S370P |
probably damaging |
Het |
Pi4k2a |
T |
C |
19: 42,093,337 (GRCm39) |
I226T |
probably benign |
Het |
Pick1 |
T |
C |
15: 79,132,965 (GRCm39) |
S342P |
probably damaging |
Het |
Plscr1 |
A |
G |
9: 92,153,588 (GRCm39) |
M312V |
probably damaging |
Het |
Ppp3cc |
T |
G |
14: 70,462,468 (GRCm39) |
K399Q |
probably benign |
Het |
Qpctl |
T |
C |
7: 18,880,943 (GRCm39) |
H163R |
probably benign |
Het |
Rab11fip5 |
A |
G |
6: 85,351,110 (GRCm39) |
V134A |
possibly damaging |
Het |
Rasal1 |
T |
A |
5: 120,802,025 (GRCm39) |
|
probably null |
Het |
Rem2 |
T |
A |
14: 54,715,548 (GRCm39) |
I171N |
probably damaging |
Het |
Sec22a |
T |
A |
16: 35,149,885 (GRCm39) |
I214L |
probably benign |
Het |
Setbp1 |
T |
C |
18: 79,130,070 (GRCm39) |
D54G |
probably damaging |
Het |
Slc27a2 |
C |
T |
2: 126,409,700 (GRCm39) |
A294V |
probably damaging |
Het |
Slfn14 |
T |
A |
11: 83,167,430 (GRCm39) |
D695V |
probably damaging |
Het |
Smc6 |
T |
A |
12: 11,359,301 (GRCm39) |
I975K |
probably damaging |
Het |
Spice1 |
T |
C |
16: 44,206,043 (GRCm39) |
F835L |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,206,477 (GRCm39) |
F273I |
probably damaging |
Het |
Ttc39d |
C |
A |
17: 80,523,891 (GRCm39) |
D183E |
probably benign |
Het |
Vasp |
A |
G |
7: 18,995,946 (GRCm39) |
S128P |
probably benign |
Het |
Vcpip1 |
A |
G |
1: 9,818,378 (GRCm39) |
S2P |
unknown |
Het |
Vmn2r98 |
T |
C |
17: 19,301,184 (GRCm39) |
Y729H |
probably benign |
Het |
Wdr18 |
A |
T |
10: 79,801,944 (GRCm39) |
D243V |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,343,633 (GRCm39) |
V1958A |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,816,474 (GRCm39) |
M492K |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
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 |
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 |
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'- CTGACAGAGCAATGGCAAAC -3'
(R):5'- TAGAGCGGATTTGCCAGGAG -3'
Sequencing Primer
(F):5'- TGACAGAGCAATGGCAAACAAAAAC -3'
(R):5'- ATTTGCCAGGAGCTCATAGC -3'
|
Posted On |
2019-05-13 |