Mutagenetix > Incidental Mutation

Incidental Mutation 'R4008:Tars3'

311567

Institutional Source

Beutler Lab

Gene Symbol

Tars3

Ensembl Gene

ENSMUSG00000030515

Gene Name

threonyl-tRNA synthetase 3

Synonyms

A530046H20Rik, Tarsl2

MMRRC Submission

040946-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R4008 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65294646-65341839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65327876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 528 (D528E)

Ref Sequence

ENSEMBL: ENSMUSP00000032728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032728]

AlphaFold

Q8BLY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032728
AA Change: D528E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032728
Gene: ENSMUSG00000030515
AA Change: D528E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127354

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
Batf2	G	A	19: 6,221,378 (GRCm39)	E63K	probably damaging	Het
Chd1l	A	T	3: 97,477,718 (GRCm39)	M679K	probably benign	Het
Clvs2	G	A	10: 33,419,458 (GRCm39)	H199Y	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
H2-K2	G	A	17: 34,218,525 (GRCm39)		probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Larp7	T	C	3: 127,334,519 (GRCm39)	D490G	probably benign	Het
Map9	T	C	3: 82,266,390 (GRCm39)	Y12H	probably damaging	Het
Mn1	G	T	5: 111,568,035 (GRCm39)	E668D	probably benign	Het
Mrps18c	T	C	5: 100,950,982 (GRCm39)		probably benign	Het
Npdc1	T	A	2: 25,298,992 (GRCm39)	Y237*	probably null	Het
Oprm1	A	G	10: 6,782,520 (GRCm39)	M388V	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or4n5	A	G	14: 50,132,464 (GRCm39)	L265P	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Pwp1	A	G	10: 85,717,898 (GRCm39)	T279A	possibly damaging	Het
Rabep2	C	A	7: 126,044,546 (GRCm39)	D547E	probably damaging	Het
Rbm34	T	C	8: 127,676,037 (GRCm39)	K426R	probably benign	Het
Rgs14	T	G	13: 55,517,726 (GRCm39)	L8V	probably damaging	Het
Ripor2	A	G	13: 24,880,521 (GRCm39)	H407R	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc39a12	T	C	2: 14,456,928 (GRCm39)	F603L	probably damaging	Het
Smg5	T	C	3: 88,256,465 (GRCm39)	S244P	probably benign	Het
St3gal3	T	C	4: 117,797,637 (GRCm39)	I252V	probably benign	Het
Try10	A	G	6: 41,333,608 (GRCm39)	T118A	probably benign	Het
Tshr	C	T	12: 91,504,268 (GRCm39)	S402L	probably benign	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
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
R7634:Tars3	UTSW	7	65,325,760 (GRCm39)	missense	probably damaging	0.99
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'- TTGCCCTAAGACCCACATCTTG -3'
(R):5'- GACTGACCTCTGATCTCTAAACCAG -3'

Sequencing Primer
(F):5'- AGATGATCCGTTTTCTGTCCATCGG -3'
(R):5'- GAAAATCAGCAAAGGTTTCTCTCAGC -3'

Posted On

2015-04-29