Mutagenetix > Incidental Mutation

Incidental Mutation 'R8942:Tars'

681072

Institutional Source

Beutler Lab

Gene Symbol

Tars

Ensembl Gene

ENSMUSG00000022241

Gene Name

threonyl-tRNA synthetase

Synonyms

D15Wsu59e, ThrRS

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8942 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11382301-11399665 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11384097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 695 (H695N)

Ref Sequence

ENSEMBL: ENSMUSP00000022849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022849] [ENSMUST00000228814]

AlphaFold

Q9D0R2

Predicted Effect

probably benign
Transcript: ENSMUST00000022849
AA Change: H695N

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: H695N

Domain	Start	End	E-Value	Type
low complexity region	21	45	N/A	INTRINSIC
Pfam:TGS	82	142	7.5e-18	PFAM
tRNA_SAD	248	297	1.91e-16	SMART
Pfam:tRNA-synt_2b	396	607	5e-38	PFAM
Pfam:HGTP_anticodon	619	710	6.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228814

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,553,320	D833E	probably damaging	Het
Adgrl3	A	T	5: 81,648,721	I626L	probably benign	Het
AI182371	A	C	2: 35,100,610	L25R	probably damaging	Het
Atp2b2	G	T	6: 113,814,030	Q138K	probably benign	Het
Atp8b5	T	C	4: 43,353,658	F491L	probably damaging	Het
Bcap29	T	A	12: 31,634,354	M1L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,241	D294G	probably benign	Het
Ccdc170	C	T	10: 4,534,044	A290V	probably benign	Het
Cfhr2	A	T	1: 139,813,554	L228I	probably benign	Het
Clip4	T	A	17: 71,863,773	V645D	probably benign	Het
Cyp4a31	C	T	4: 115,569,721	R173W	possibly damaging	Het
D430042O09Rik	T	G	7: 125,850,803	L1013R	probably damaging	Het
Dis3l	T	C	9: 64,307,593	K898R	probably benign	Het
Efr3b	G	T	12: 3,982,091	H172Q	possibly damaging	Het
Eipr1	A	T	12: 28,867,054	N374Y	probably damaging	Het
Exoc3l4	A	T	12: 111,425,568	E414D	possibly damaging	Het
Exoc3l4	G	T	12: 111,425,569	V415L	probably benign	Het
Faap100	G	T	11: 120,377,030	H306N	possibly damaging	Het
Gapvd1	T	C	2: 34,729,122	T80A	probably benign	Het
Gen1	A	G	12: 11,242,286	S501P	probably benign	Het
Gm10643	A	G	8: 84,064,170		probably benign	Het
Gm13084	T	C	4: 143,810,291	N490S	probably benign	Het
Hecw1	A	T	13: 14,306,810	V445D	probably benign	Het
Hells	CT	C	19: 38,953,601		probably null	Het
Hnrnpr	T	G	4: 136,332,480	D197E	possibly damaging	Het
Hspb1	G	A	5: 135,888,074	V6M	probably damaging	Het
Iglon5	A	G	7: 43,476,891	V196A	probably benign	Het
Ints2	T	C	11: 86,212,894	T1142A	probably benign	Het
Kcnq2	T	A	2: 181,082,451	D587V	probably damaging	Het
Lmln	C	T	16: 33,080,960	P242L	probably damaging	Het
Mapt	G	A	11: 104,282,481		probably null	Het
Mrgpre	T	C	7: 143,781,265	Y167C		Het
Mtx2	A	T	2: 74,869,352	I156F	probably benign	Het
Nipbl	A	T	15: 8,351,620	S563T	probably benign	Het
Nmbr	C	T	10: 14,770,453	S357L	probably benign	Het
Olfr1192-ps1	C	T	2: 88,652,964	L271F	possibly damaging	Het
Olfr1306	T	A	2: 111,912,862	I23F	probably benign	Het
Olfr1313	T	C	2: 112,072,457	N42S	probably damaging	Het
Olfr1338	A	T	4: 118,754,397	I49N	possibly damaging	Het
Olfr1508	A	C	14: 52,463,235	I258S	probably damaging	Het
Olfr725	A	C	14: 50,035,145	L86R	probably damaging	Het
Pctp	A	G	11: 89,984,728	M203T	possibly damaging	Het
Pip4k2c	A	G	10: 127,200,215	V261A	probably benign	Het
Pm20d1	G	T	1: 131,812,047	V378F	possibly damaging	Het
Ppcdc	C	T	9: 57,434,982	R19H	probably benign	Het
Sdk1	A	G	5: 142,096,843	E1332G	probably damaging	Het
Sgce	G	T	6: 4,730,027	L66M	probably benign	Het
Sycp2l	G	T	13: 41,124,046		probably null	Het
Tdo2	A	G	3: 81,969,544	V107A	probably benign	Het
Tmem131l	A	T	3: 83,898,486	M1550K	possibly damaging	Het
Ttf2	A	C	3: 100,961,726	S431R	probably benign	Het
Unc80	A	G	1: 66,473,309	D126G	possibly damaging	Het
Usp17lb	C	T	7: 104,841,376	V115I	possibly damaging	Het
Vezf1	A	G	11: 88,081,727	T305A	probably benign	Het
Vmn1r45	A	T	6: 89,933,894	N31K	probably benign	Het
Wdr59	T	C	8: 111,485,176	K380E	probably benign	Het
Xylt1	T	A	7: 117,634,744	Y499*	probably null	Het
Zfp777	T	C	6: 48,029,191	E467G	probably benign	Het
Zkscan4	C	A	13: 21,484,510	P406Q	probably benign	Het

Other mutations in Tars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Tars	APN	15	11388221	splice site	probably null
IGL00642:Tars	APN	15	11394372	missense	probably damaging	1.00
IGL01315:Tars	APN	15	11389734	nonsense	probably null
IGL01459:Tars	APN	15	11391854	missense	possibly damaging	0.76
IGL02141:Tars	APN	15	11391194	missense	probably damaging	0.96
IGL03292:Tars	APN	15	11384021	missense	probably benign	0.22
R0383:Tars	UTSW	15	11390325	missense	probably benign
R0517:Tars	UTSW	15	11394366	nonsense	probably null
R0685:Tars	UTSW	15	11385173	missense	probably benign
R1589:Tars	UTSW	15	11388175	missense	probably benign	0.32
R1753:Tars	UTSW	15	11394243	nonsense	probably null
R2051:Tars	UTSW	15	11393194	nonsense	probably null
R2060:Tars	UTSW	15	11394373	missense	probably benign	0.03
R2216:Tars	UTSW	15	11389708	missense	probably benign	0.00
R3610:Tars	UTSW	15	11392904	missense	probably damaging	0.99
R4656:Tars	UTSW	15	11394264	missense	probably damaging	1.00
R4844:Tars	UTSW	15	11385195	missense	possibly damaging	0.85
R4974:Tars	UTSW	15	11390391	missense	probably damaging	1.00
R5551:Tars	UTSW	15	11391982	missense	probably damaging	0.97
R5992:Tars	UTSW	15	11397196	missense	probably damaging	1.00
R6742:Tars	UTSW	15	11394341	missense	probably damaging	0.98
R6778:Tars	UTSW	15	11389699	missense	probably benign	0.06
R6850:Tars	UTSW	15	11392799	missense	probably benign
R7270:Tars	UTSW	15	11392019	missense	probably benign	0.00
R7401:Tars	UTSW	15	11392009	nonsense	probably null
R7743:Tars	UTSW	15	11399372	splice site	probably null
R8062:Tars	UTSW	15	11388314	missense	possibly damaging	0.78
R8852:Tars	UTSW	15	11393262	missense	probably benign	0.02
R9205:Tars	UTSW	15	11397179	critical splice donor site	probably null
R9362:Tars	UTSW	15	11387530	missense	probably damaging	1.00
R9668:Tars	UTSW	15	11394360	nonsense	probably null
Z1088:Tars	UTSW	15	11391884	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- CAAAGGCCGATTCATGCAG -3'
(R):5'- TGGCCATTTGTCCACCTCAG -3'

Sequencing Primer
(F):5'- GCCGATTCATGCAGACTGC -3'
(R):5'- CCTCAGTGTATCTTAAGTTACAGGG -3'

Posted On

2021-08-31