Incidental Mutation 'R5512:Tars2'
ID |
501244 |
Institutional Source |
Beutler Lab
|
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 # |
R5512 (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 T
at 95657728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 238
(C238S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029752]
[ENSMUST00000074339]
[ENSMUST00000098857]
[ENSMUST00000163530]
[ENSMUST00000195929]
[ENSMUST00000196077]
[ENSMUST00000199570]
[ENSMUST00000198289]
[ENSMUST00000196868]
[ENSMUST00000199464]
[ENSMUST00000197501]
[ENSMUST00000197720]
|
AlphaFold |
Q3UQ84 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029752
AA Change: C238S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029752 Gene: ENSMUSG00000028107 AA Change: C238S
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: C238S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073946 Gene: ENSMUSG00000028107 AA Change: C238S
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 damaging
Transcript: ENSMUST00000098857
AA Change: C238S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096456 Gene: ENSMUSG00000028107 AA Change: C238S
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: C157S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130269 Gene: ENSMUSG00000028107 AA Change: C157S
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 damaging
Transcript: ENSMUST00000196077
AA Change: C237S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143722 Gene: ENSMUSG00000028107 AA Change: C237S
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 |
noncoding transcript
Transcript: ENSMUST00000197895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198007
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199570
AA Change: C157S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143038 Gene: ENSMUSG00000028107 AA Change: C157S
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
66 |
126 |
1.5e-13 |
PFAM |
tRNA_SAD
|
152 |
201 |
8.5e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199869
|
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: ENSMUST00000196868
|
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: ENSMUST00000197501
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197389
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197720
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
G |
7: 130,952,389 (GRCm39) |
V364A |
possibly damaging |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Adgre5 |
T |
C |
8: 84,455,715 (GRCm39) |
N198D |
probably benign |
Het |
Adgrf4 |
G |
T |
17: 42,978,176 (GRCm39) |
T389K |
probably benign |
Het |
Apc |
T |
A |
18: 34,443,962 (GRCm39) |
|
probably benign |
Het |
Appl2 |
T |
A |
10: 83,441,682 (GRCm39) |
I524F |
probably damaging |
Het |
Arhgef37 |
G |
A |
18: 61,632,845 (GRCm39) |
Q531* |
probably null |
Het |
Atp7b |
T |
C |
8: 22,502,755 (GRCm39) |
T694A |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,334,968 (GRCm39) |
I780F |
probably damaging |
Het |
Calcoco2 |
T |
C |
11: 95,994,162 (GRCm39) |
K95E |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,870 (GRCm39) |
D388G |
possibly damaging |
Het |
Ccdc150 |
A |
C |
1: 54,393,806 (GRCm39) |
E690A |
probably damaging |
Het |
Cdc73 |
G |
T |
1: 143,578,354 (GRCm39) |
D3E |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,370,165 (GRCm39) |
|
probably null |
Het |
Cep170b |
T |
C |
12: 112,699,919 (GRCm39) |
S143P |
possibly damaging |
Het |
Cherp |
T |
C |
8: 73,217,110 (GRCm39) |
I607V |
possibly damaging |
Het |
CN725425 |
T |
A |
15: 91,124,959 (GRCm39) |
H166Q |
probably benign |
Het |
Dcaf6 |
A |
G |
1: 165,227,404 (GRCm39) |
V241A |
possibly damaging |
Het |
Dot1l |
C |
T |
10: 80,624,825 (GRCm39) |
P881S |
possibly damaging |
Het |
Drgx |
A |
G |
14: 32,322,001 (GRCm39) |
H5R |
probably damaging |
Het |
Dsg1c |
A |
T |
18: 20,405,568 (GRCm39) |
N327I |
probably damaging |
Het |
Fbxw7 |
G |
A |
3: 84,862,216 (GRCm39) |
R182H |
probably damaging |
Het |
Fkbp1b |
A |
T |
12: 4,888,183 (GRCm39) |
V24E |
probably benign |
Het |
Fut11 |
T |
C |
14: 20,746,069 (GRCm39) |
S304P |
probably damaging |
Het |
Ggt1 |
C |
T |
10: 75,420,718 (GRCm39) |
T361I |
probably damaging |
Het |
Gimap7 |
G |
T |
6: 48,700,530 (GRCm39) |
A39S |
probably benign |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gm17541 |
G |
T |
12: 4,739,452 (GRCm39) |
|
probably benign |
Het |
Gmip |
T |
A |
8: 70,270,540 (GRCm39) |
V750E |
probably benign |
Het |
Gna14 |
A |
G |
19: 16,585,492 (GRCm39) |
E290G |
probably benign |
Het |
Gpnmb |
T |
C |
6: 49,022,398 (GRCm39) |
V176A |
possibly damaging |
Het |
Hhla1 |
T |
C |
15: 65,795,865 (GRCm39) |
K447R |
probably benign |
Het |
Hsd3b1 |
A |
G |
3: 98,760,521 (GRCm39) |
Y157H |
probably benign |
Het |
Iqgap2 |
G |
A |
13: 95,811,884 (GRCm39) |
Q706* |
probably null |
Het |
Krt222 |
A |
C |
11: 99,125,781 (GRCm39) |
S283R |
probably damaging |
Het |
Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,526 (GRCm39) |
I536F |
probably damaging |
Het |
Mptx1 |
A |
G |
1: 174,160,315 (GRCm39) |
D207G |
probably benign |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Napsa |
A |
G |
7: 44,222,040 (GRCm39) |
M1V |
probably null |
Het |
Ncam1 |
A |
T |
9: 49,420,999 (GRCm39) |
|
probably null |
Het |
Nckap5 |
G |
A |
1: 125,955,481 (GRCm39) |
P425L |
possibly damaging |
Het |
Nol8 |
A |
G |
13: 49,830,263 (GRCm39) |
S1116G |
probably benign |
Het |
Nrde2 |
G |
T |
12: 100,108,509 (GRCm39) |
Q361K |
probably benign |
Het |
Nudt13 |
G |
A |
14: 20,357,800 (GRCm39) |
G133D |
probably damaging |
Het |
Ofcc1 |
G |
T |
13: 40,360,286 (GRCm39) |
Q248K |
probably benign |
Het |
Olfm4 |
A |
G |
14: 80,258,787 (GRCm39) |
D345G |
probably benign |
Het |
Or2t6 |
C |
A |
14: 14,175,633 (GRCm38) |
G150C |
probably damaging |
Het |
Or4k41 |
G |
A |
2: 111,280,099 (GRCm39) |
V205I |
probably benign |
Het |
Osbpl3 |
T |
G |
6: 50,286,340 (GRCm39) |
K659N |
probably damaging |
Het |
Pdk2 |
G |
A |
11: 94,930,292 (GRCm39) |
T48M |
probably damaging |
Het |
Phf11a |
A |
T |
14: 59,524,999 (GRCm39) |
D68E |
probably benign |
Het |
Purb |
A |
G |
11: 6,425,702 (GRCm39) |
V62A |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,037,971 (GRCm39) |
T248A |
possibly damaging |
Het |
Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,557,805 (GRCm39) |
E1345K |
unknown |
Het |
Sema3e |
G |
A |
5: 14,280,194 (GRCm39) |
A358T |
probably damaging |
Het |
Slc29a2 |
A |
G |
19: 5,076,426 (GRCm39) |
I105V |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc6a5 |
G |
A |
7: 49,591,573 (GRCm39) |
V513I |
probably damaging |
Het |
Slco4a1 |
T |
A |
2: 180,115,907 (GRCm39) |
F681Y |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,339,445 (GRCm39) |
N775S |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,432,605 (GRCm39) |
V827D |
probably damaging |
Het |
Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
Tasor2 |
A |
T |
13: 3,645,517 (GRCm39) |
Y111N |
probably damaging |
Het |
Tnks1bp1 |
C |
A |
2: 84,893,178 (GRCm39) |
P373Q |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,575,045 (GRCm39) |
L373P |
probably damaging |
Het |
Unc45b |
A |
C |
11: 82,805,898 (GRCm39) |
D135A |
possibly damaging |
Het |
Vmn1r235 |
A |
T |
17: 21,481,677 (GRCm39) |
M1L |
probably benign |
Het |
Vmn2r66 |
T |
C |
7: 84,657,149 (GRCm39) |
I85M |
probably damaging |
Het |
Vmn2r80 |
T |
G |
10: 79,004,066 (GRCm39) |
L93W |
probably benign |
Het |
Vwf |
G |
T |
6: 125,650,850 (GRCm39) |
|
probably benign |
Het |
Ythdf3 |
A |
G |
3: 16,238,086 (GRCm39) |
R9G |
probably damaging |
Het |
Zfp229 |
A |
G |
17: 21,964,017 (GRCm39) |
|
probably null |
Het |
Zfp958 |
A |
C |
8: 4,675,838 (GRCm39) |
|
probably null |
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 |
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'- CATCAGCCATGAGGACAGAG -3'
(R):5'- GCAGATGAACCGTACTGCTC -3'
Sequencing Primer
(F):5'- CAGCCATGAGGACAGAGAAGGG -3'
(R):5'- GATGAACCGTACTGCTCCAGAAAAAG -3'
|
Posted On |
2017-12-01 |