Incidental Mutation 'R8310:Tars2'
ID |
641312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars2
|
Ensembl Gene |
ENSMUSG00000028107 |
Gene Name |
threonyl-tRNA synthetase 2, mitochondrial (putative) |
Synonyms |
Tarsl1, 2610024N01Rik |
MMRRC Submission |
067795-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R8310 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95647286-95663677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 95658271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 185
(I185F)
|
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 benign
Transcript: ENSMUST00000029752
AA Change: I185F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000029752 Gene: ENSMUSG00000028107 AA Change: I185F
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: I185F
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000073946 Gene: ENSMUSG00000028107 AA Change: I185F
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 |
possibly damaging
Transcript: ENSMUST00000098857
AA Change: I185F
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000096456 Gene: ENSMUSG00000028107 AA Change: I185F
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 benign
Transcript: ENSMUST00000196077
AA Change: I184F
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143722 Gene: ENSMUSG00000028107 AA Change: I184F
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: H143L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000143328 Gene: ENSMUSG00000028107 AA Change: H143L
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (50/51) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
G |
13: 48,667,727 (GRCm39) |
W10G |
unknown |
Het |
Abca13 |
A |
T |
11: 9,328,269 (GRCm39) |
K3447N |
possibly damaging |
Het |
Agtr1a |
T |
G |
13: 30,565,745 (GRCm39) |
V270G |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,033 (GRCm39) |
H2505L |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,850,629 (GRCm39) |
V86D |
possibly damaging |
Het |
Cacna1s |
C |
A |
1: 136,015,075 (GRCm39) |
N654K |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,506,469 (GRCm39) |
|
probably benign |
Het |
Ccdc8 |
T |
C |
7: 16,729,326 (GRCm39) |
S272P |
probably damaging |
Het |
Cnksr1 |
T |
C |
4: 133,956,730 (GRCm39) |
E510G |
probably damaging |
Het |
Cnot6l |
A |
T |
5: 96,239,535 (GRCm39) |
D255E |
probably benign |
Het |
Ddx1 |
A |
C |
12: 13,274,280 (GRCm39) |
|
probably benign |
Het |
Dyrk1a |
A |
G |
16: 94,492,650 (GRCm39) |
T628A |
probably benign |
Het |
Elavl1 |
A |
T |
8: 4,351,786 (GRCm39) |
I110N |
probably damaging |
Het |
Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
Erich3 |
C |
T |
3: 154,410,586 (GRCm39) |
T147I |
|
Het |
Galnt1 |
A |
T |
18: 24,404,686 (GRCm39) |
H341L |
probably damaging |
Het |
Gm14325 |
A |
T |
2: 177,473,592 (GRCm39) |
C497S |
probably damaging |
Het |
Gm4922 |
A |
T |
10: 18,659,536 (GRCm39) |
N395K |
probably benign |
Het |
Hsd17b2 |
G |
A |
8: 118,469,155 (GRCm39) |
C189Y |
probably damaging |
Het |
Kcnn1 |
A |
T |
8: 71,305,449 (GRCm39) |
S254T |
possibly damaging |
Het |
Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
Lrpprc |
A |
G |
17: 85,080,524 (GRCm39) |
Y199H |
probably damaging |
Het |
Lrrtm3 |
A |
T |
10: 63,925,487 (GRCm39) |
|
probably null |
Het |
Mon2 |
G |
T |
10: 122,838,688 (GRCm39) |
A1598E |
probably damaging |
Het |
Myh3 |
A |
T |
11: 66,986,833 (GRCm39) |
|
probably null |
Het |
Naa11 |
A |
T |
5: 97,539,737 (GRCm39) |
D140E |
probably damaging |
Het |
Nadk2 |
G |
A |
15: 9,103,420 (GRCm39) |
R350Q |
probably benign |
Het |
Npc1 |
T |
C |
18: 12,326,455 (GRCm39) |
I1162V |
probably damaging |
Het |
Or4e1 |
A |
G |
14: 52,701,280 (GRCm39) |
M62T |
probably damaging |
Het |
Or5v1 |
T |
C |
17: 37,810,148 (GRCm39) |
I202T |
probably benign |
Het |
Otogl |
A |
T |
10: 107,613,461 (GRCm39) |
N2001K |
possibly damaging |
Het |
Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,171,912 (GRCm39) |
|
probably null |
Het |
Ppp2r5c |
A |
T |
12: 110,512,259 (GRCm39) |
T185S |
possibly damaging |
Het |
Psd2 |
A |
T |
18: 36,112,766 (GRCm39) |
S154C |
probably damaging |
Het |
Rnasel |
G |
A |
1: 153,630,734 (GRCm39) |
V417M |
possibly damaging |
Het |
Slc35g2 |
A |
G |
9: 100,434,841 (GRCm39) |
S277P |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,070,158 (GRCm39) |
W140R |
possibly damaging |
Het |
Slc6a12 |
A |
G |
6: 121,340,250 (GRCm39) |
K512E |
probably damaging |
Het |
Sox7 |
C |
T |
14: 64,181,275 (GRCm39) |
S24L |
probably benign |
Het |
Specc1 |
A |
G |
11: 62,023,171 (GRCm39) |
K659E |
probably damaging |
Het |
Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,297,829 (GRCm39) |
M1156T |
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,396,612 (GRCm39) |
I839V |
|
Het |
Vmn1r115 |
T |
C |
7: 20,578,819 (GRCm39) |
N31S |
probably damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,224,024 (GRCm39) |
D183G |
probably damaging |
Het |
Wdr7 |
C |
T |
18: 63,868,756 (GRCm39) |
T275I |
probably damaging |
Het |
Ybx2 |
A |
G |
11: 69,831,194 (GRCm39) |
E263G |
probably damaging |
Het |
Zbtb6 |
G |
T |
2: 37,319,896 (GRCm39) |
Q11K |
probably benign |
Het |
Zfp329 |
A |
T |
7: 12,544,116 (GRCm39) |
C469* |
probably null |
Het |
Zfp868 |
A |
T |
8: 70,066,446 (GRCm39) |
L40H |
probably 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 |
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'- AGGGACCATGAATCCGCTAG -3'
(R):5'- TCTCCTGACCGCTGAAACTC -3'
Sequencing Primer
(F):5'- TCCGCTAGGACGCCCTG -3'
(R):5'- CGATCCTATAGAGTACTTGCCAAGG -3'
|
Posted On |
2020-07-28 |