Incidental Mutation 'R7634:Tars3'
ID |
589815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tars3
|
Ensembl Gene |
ENSMUSG00000030515 |
Gene Name |
threonyl-tRNA synthetase 3 |
Synonyms |
A530046H20Rik, Tarsl2 |
MMRRC Submission |
045693-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R7634 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
65294646-65341839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65325760 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 445
(Y445N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032728]
|
AlphaFold |
Q8BLY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032728
AA Change: Y445N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032728 Gene: ENSMUSG00000030515 AA Change: Y445N
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
coiled coil region
|
44 |
68 |
N/A |
INTRINSIC |
Pfam:TGS
|
151 |
210 |
8.8e-14 |
PFAM |
tRNA_SAD
|
316 |
365 |
1.26e-16 |
SMART |
Pfam:tRNA-synt_2b
|
464 |
675 |
2.2e-35 |
PFAM |
Pfam:HGTP_anticodon
|
687 |
778 |
1.1e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.7288 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
A |
T |
8: 60,969,102 (GRCm39) |
M116L |
probably benign |
Het |
Adam25 |
A |
G |
8: 41,207,883 (GRCm39) |
D383G |
probably benign |
Het |
Adam26b |
T |
A |
8: 43,974,034 (GRCm39) |
M323L |
probably benign |
Het |
Adgrf3 |
T |
C |
5: 30,407,245 (GRCm39) |
H227R |
probably benign |
Het |
Antxr1 |
G |
A |
6: 87,114,273 (GRCm39) |
T498I |
probably benign |
Het |
Arg1 |
T |
A |
10: 24,791,627 (GRCm39) |
T285S |
possibly damaging |
Het |
Arhgdig |
T |
C |
17: 26,418,365 (GRCm39) |
D206G |
probably damaging |
Het |
Asb10 |
C |
A |
5: 24,745,875 (GRCm39) |
C17F |
possibly damaging |
Het |
Atg2b |
T |
C |
12: 105,618,379 (GRCm39) |
D891G |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,611,083 (GRCm39) |
S572T |
possibly damaging |
Het |
Cenpj |
T |
C |
14: 56,780,257 (GRCm39) |
T985A |
probably benign |
Het |
Cfap65 |
G |
T |
1: 74,941,593 (GRCm39) |
N1780K |
probably damaging |
Het |
Cyp26c1 |
T |
C |
19: 37,681,447 (GRCm39) |
Y417H |
probably damaging |
Het |
Dnajb13 |
G |
T |
7: 100,152,393 (GRCm39) |
Q308K |
probably benign |
Het |
Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
Gm3127 |
A |
G |
14: 15,425,787 (GRCm39) |
N64S |
probably damaging |
Het |
Gm4847 |
A |
C |
1: 166,460,249 (GRCm39) |
N412K |
probably benign |
Het |
Gtf3c3 |
A |
T |
1: 54,458,800 (GRCm39) |
|
probably null |
Het |
Guf1 |
T |
C |
5: 69,721,887 (GRCm39) |
S349P |
probably damaging |
Het |
Hvcn1 |
A |
G |
5: 122,371,586 (GRCm39) |
Y42C |
probably damaging |
Het |
Insm1 |
A |
G |
2: 146,065,027 (GRCm39) |
Y281C |
probably damaging |
Het |
Lrrc71 |
A |
G |
3: 87,650,281 (GRCm39) |
I264T |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,036,462 (GRCm39) |
N897S |
probably damaging |
Het |
Mtmr6 |
T |
A |
14: 60,533,596 (GRCm39) |
F375I |
probably damaging |
Het |
Mtor |
G |
C |
4: 148,536,807 (GRCm39) |
S27T |
possibly damaging |
Het |
Mylk4 |
T |
A |
13: 32,892,891 (GRCm39) |
K387N |
possibly damaging |
Het |
Nadk2 |
T |
G |
15: 9,092,935 (GRCm39) |
D247E |
probably benign |
Het |
Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 70,990,354 (GRCm39) |
V1067A |
probably benign |
Het |
Nrbp2 |
C |
T |
15: 75,959,257 (GRCm39) |
R206Q |
possibly damaging |
Het |
Oas2 |
A |
G |
5: 120,871,293 (GRCm39) |
V722A |
probably benign |
Het |
Odad4 |
G |
A |
11: 100,452,731 (GRCm39) |
|
probably null |
Het |
Or4c108 |
G |
T |
2: 88,804,001 (GRCm39) |
P78Q |
probably damaging |
Het |
Pcdhb2 |
G |
T |
18: 37,428,000 (GRCm39) |
|
probably benign |
Het |
Pdpr |
T |
A |
8: 111,852,317 (GRCm39) |
H561Q |
probably damaging |
Het |
Plcz1 |
A |
G |
6: 139,961,853 (GRCm39) |
F233L |
probably damaging |
Het |
Ppp1r3d |
A |
G |
2: 178,055,165 (GRCm39) |
I279T |
probably damaging |
Het |
Psg17 |
A |
G |
7: 18,548,416 (GRCm39) |
Y452H |
probably damaging |
Het |
Reg4 |
T |
C |
3: 98,140,428 (GRCm39) |
|
probably null |
Het |
Rint1 |
A |
G |
5: 24,010,477 (GRCm39) |
T229A |
probably benign |
Het |
Robo1 |
T |
G |
16: 72,839,866 (GRCm39) |
|
probably null |
Het |
Slc22a26 |
A |
C |
19: 7,779,952 (GRCm39) |
|
probably null |
Het |
Slc22a7 |
C |
T |
17: 46,749,156 (GRCm39) |
A54T |
probably benign |
Het |
Slc52a3 |
C |
A |
2: 151,846,534 (GRCm39) |
T165N |
possibly damaging |
Het |
Slc7a11 |
C |
T |
3: 50,378,486 (GRCm39) |
|
probably null |
Het |
Smap2 |
T |
C |
4: 120,873,996 (GRCm39) |
N18S |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,595,278 (GRCm39) |
E369G |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tmprss7 |
C |
T |
16: 45,483,637 (GRCm39) |
G579D |
probably benign |
Het |
Tpi1 |
T |
A |
6: 124,789,817 (GRCm39) |
K109* |
probably null |
Het |
Ttn |
T |
C |
2: 76,628,856 (GRCm39) |
E14466G |
possibly damaging |
Het |
Usp40 |
A |
T |
1: 87,890,152 (GRCm39) |
C903* |
probably null |
Het |
Vinac1 |
T |
A |
2: 128,880,192 (GRCm39) |
D578V |
|
Het |
Vmn2r104 |
T |
A |
17: 20,261,971 (GRCm39) |
L386F |
possibly damaging |
Het |
Vmn2r54 |
G |
A |
7: 12,349,630 (GRCm39) |
P651S |
probably damaging |
Het |
Wnk4 |
C |
A |
11: 101,153,721 (GRCm39) |
T261K |
probably damaging |
Het |
Wnt2b |
T |
C |
3: 104,854,432 (GRCm39) |
Y342C |
probably damaging |
Het |
Zbtb8b |
A |
G |
4: 129,326,755 (GRCm39) |
Y137H |
probably damaging |
Het |
|
Other mutations in Tars3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Tars3
|
APN |
7 |
65,302,007 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL00470:Tars3
|
APN |
7 |
65,338,656 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00594:Tars3
|
APN |
7 |
65,325,880 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01352:Tars3
|
APN |
7 |
65,308,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01519:Tars3
|
APN |
7 |
65,313,634 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01726:Tars3
|
APN |
7 |
65,332,566 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02370:Tars3
|
APN |
7 |
65,310,913 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02729:Tars3
|
APN |
7 |
65,332,567 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03234:Tars3
|
APN |
7 |
65,302,026 (GRCm39) |
missense |
probably benign |
0.06 |
gary
|
UTSW |
7 |
65,338,700 (GRCm39) |
critical splice donor site |
probably null |
|
R8254_tarsl2_650
|
UTSW |
7 |
65,325,809 (GRCm39) |
missense |
probably benign |
|
smart_money
|
UTSW |
7 |
65,327,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Tars3
|
UTSW |
7 |
65,314,717 (GRCm39) |
missense |
probably benign |
0.19 |
R0153:Tars3
|
UTSW |
7 |
65,333,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R0605:Tars3
|
UTSW |
7 |
65,327,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R1070:Tars3
|
UTSW |
7 |
65,305,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R1450:Tars3
|
UTSW |
7 |
65,297,244 (GRCm39) |
missense |
probably benign |
0.01 |
R1467:Tars3
|
UTSW |
7 |
65,305,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Tars3
|
UTSW |
7 |
65,305,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R2142:Tars3
|
UTSW |
7 |
65,308,645 (GRCm39) |
missense |
probably benign |
|
R2143:Tars3
|
UTSW |
7 |
65,305,539 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2144:Tars3
|
UTSW |
7 |
65,305,539 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2145:Tars3
|
UTSW |
7 |
65,305,539 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2208:Tars3
|
UTSW |
7 |
65,332,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R3713:Tars3
|
UTSW |
7 |
65,338,700 (GRCm39) |
critical splice donor site |
probably null |
|
R3715:Tars3
|
UTSW |
7 |
65,338,700 (GRCm39) |
critical splice donor site |
probably null |
|
R3914:Tars3
|
UTSW |
7 |
65,333,556 (GRCm39) |
missense |
probably benign |
0.05 |
R3929:Tars3
|
UTSW |
7 |
65,333,791 (GRCm39) |
splice site |
probably null |
|
R4008:Tars3
|
UTSW |
7 |
65,327,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R4064:Tars3
|
UTSW |
7 |
65,302,018 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4367:Tars3
|
UTSW |
7 |
65,332,567 (GRCm39) |
missense |
probably damaging |
0.97 |
R4652:Tars3
|
UTSW |
7 |
65,339,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Tars3
|
UTSW |
7 |
65,297,302 (GRCm39) |
missense |
probably benign |
0.38 |
R4901:Tars3
|
UTSW |
7 |
65,341,042 (GRCm39) |
missense |
probably benign |
0.05 |
R4999:Tars3
|
UTSW |
7 |
65,308,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R5423:Tars3
|
UTSW |
7 |
65,333,567 (GRCm39) |
missense |
probably benign |
0.00 |
R5756:Tars3
|
UTSW |
7 |
65,325,724 (GRCm39) |
missense |
probably benign |
0.22 |
R5772:Tars3
|
UTSW |
7 |
65,333,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R6160:Tars3
|
UTSW |
7 |
65,332,527 (GRCm39) |
missense |
probably benign |
0.32 |
R6230:Tars3
|
UTSW |
7 |
65,336,184 (GRCm39) |
splice site |
probably null |
|
R6424:Tars3
|
UTSW |
7 |
65,305,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R6615:Tars3
|
UTSW |
7 |
65,327,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R6792:Tars3
|
UTSW |
7 |
65,312,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R7350:Tars3
|
UTSW |
7 |
65,308,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R7549:Tars3
|
UTSW |
7 |
65,297,341 (GRCm39) |
missense |
probably damaging |
0.96 |
R7592:Tars3
|
UTSW |
7 |
65,308,619 (GRCm39) |
missense |
probably benign |
0.01 |
R7710:Tars3
|
UTSW |
7 |
65,314,717 (GRCm39) |
missense |
probably benign |
0.19 |
R7808:Tars3
|
UTSW |
7 |
65,302,009 (GRCm39) |
missense |
probably benign |
0.01 |
R7875:Tars3
|
UTSW |
7 |
65,327,899 (GRCm39) |
missense |
probably benign |
0.05 |
R8254:Tars3
|
UTSW |
7 |
65,325,809 (GRCm39) |
missense |
probably benign |
|
R8793:Tars3
|
UTSW |
7 |
65,294,673 (GRCm39) |
start gained |
probably benign |
|
R9162:Tars3
|
UTSW |
7 |
65,332,518 (GRCm39) |
missense |
probably benign |
0.01 |
R9200:Tars3
|
UTSW |
7 |
65,302,013 (GRCm39) |
missense |
probably benign |
|
R9461:Tars3
|
UTSW |
7 |
65,339,719 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9533:Tars3
|
UTSW |
7 |
65,333,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Tars3
|
UTSW |
7 |
65,302,012 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGTCACCTGAGGAACCATG -3'
(R):5'- ACTCTTCCCATTCCAGAGAATC -3'
Sequencing Primer
(F):5'- CACCTGAGGAACCATGAATTAATAG -3'
(R):5'- ACGTGAACAGCTGATTCTGATGC -3'
|
Posted On |
2019-10-24 |