Mutagenetix > Incidental Mutation

Incidental Mutation 'R5706:Vars'

451995

Institutional Source

Beutler Lab

Gene Symbol

Vars

Ensembl Gene

ENSMUSG00000007029

Gene Name

valyl-tRNA synthetase

Synonyms

Bat-6, Bat6, G7a, D17H6S56E, Vars2

MMRRC Submission

043331-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35000987-35016322 bp(+) (GRCm38)

Type of Mutation

splice site (679 bp from exon)

DNA Base Change (assembly)

A to G at 35005481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087315] [ENSMUST00000172570] [ENSMUST00000173584] [ENSMUST00000174260]

AlphaFold

Q9Z1Q9

Predicted Effect

probably benign
Transcript: ENSMUST00000087315
AA Change: S326G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: S326G

Domain	Start	End	E-Value	Type
Pfam:GST_N	2	81	5.7e-16	PFAM
Pfam:GST_C	107	198	7.3e-13	PFAM
low complexity region	234	256	N/A	INTRINSIC
low complexity region	261	271	N/A	INTRINSIC
Pfam:tRNA-synt_1	307	938	2e-197	PFAM
Pfam:tRNA-synt_1g	336	496	6e-6	PFAM
Pfam:tRNA-synt_1_2	555	623	1.9e-11	PFAM
Pfam:Anticodon_1	983	1138	2.6e-34	PFAM
low complexity region	1153	1174	N/A	INTRINSIC
low complexity region	1207	1225	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172570

SMART Domains

Protein: ENSMUSP00000134245
Gene: ENSMUSG00000007029

Domain	Start	End	E-Value	Type
Pfam:GST_C	2	76	1.2e-13	PFAM
low complexity region	112	124	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172741

Predicted Effect

probably benign
Transcript: ENSMUST00000173584
AA Change: S326G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: S326G

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	78	89	N/A	INTRINSIC
Pfam:GST_C	96	198	7.8e-14	PFAM
low complexity region	234	256	N/A	INTRINSIC
low complexity region	261	271	N/A	INTRINSIC
Pfam:tRNA-synt_1	307	938	1.9e-200	PFAM
Pfam:tRNA-synt_1g	336	493	2.1e-7	PFAM
Pfam:tRNA-synt_1_2	555	623	1.1e-12	PFAM
Pfam:Anticodon_1	983	1138	7.2e-36	PFAM
low complexity region	1153	1174	N/A	INTRINSIC
coiled coil region	1197	1225	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000174260

SMART Domains

Protein: ENSMUSP00000134313
Gene: ENSMUSG00000007029

Domain	Start	End	E-Value	Type
Pfam:GST_N	2	81	2.2e-16	PFAM
Pfam:GST_C	96	198	2.1e-13	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,054,261	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395		probably null	Het
Dnah11	T	G	12: 118,023,935	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652	H322Q	possibly damaging	Het
Heatr5b	C	T	17: 78,766,875		probably null	Het
Iqgap3	A	G	3: 88,115,908	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638		probably null	Het
Mc3r	C	A	2: 172,249,690	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091		probably null	Het
Pde3b	G	A	7: 114,521,692	G684D	probably damaging	Het
Prkaa1	C	T	15: 5,174,342	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669	K106R	possibly damaging	Het
Tenm1	A	G	X: 43,074,695	V107A	possibly damaging	Het
Topaz1	A	T	9: 122,799,485	I1546F	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225	E78*	probably null	Het
Vmn2r109	A	T	17: 20,554,305	W263R	probably benign	Het

Other mutations in Vars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Vars	APN	17	35013873	missense	probably benign	0.00
IGL02160:Vars	APN	17	35001502	missense	probably damaging	1.00
IGL02303:Vars	APN	17	35015484	splice site	probably benign
IGL03027:Vars	APN	17	35013687	missense	probably damaging	1.00
Maladroit	UTSW	17	35005475	missense	probably benign	0.30
Whoops	UTSW	17	35013644	missense	probably damaging	1.00
FR4304:Vars	UTSW	17	35015989	small insertion	probably benign
FR4548:Vars	UTSW	17	35015989	small insertion	probably benign
FR4548:Vars	UTSW	17	35015991	small insertion	probably benign
FR4589:Vars	UTSW	17	35015988	small insertion	probably benign
R0045:Vars	UTSW	17	35010619	missense	probably damaging	1.00
R0045:Vars	UTSW	17	34998066	missense	probably benign	0.13
R0045:Vars	UTSW	17	35010619	missense	probably damaging	1.00
R0266:Vars	UTSW	17	35013869	missense	probably benign	0.00
R0267:Vars	UTSW	17	35011596	splice site	probably benign
R0391:Vars	UTSW	17	35011486	missense	possibly damaging	0.79
R0445:Vars	UTSW	17	35011809	missense	probably benign	0.31
R0449:Vars	UTSW	17	35012727	splice site	probably null
R0557:Vars	UTSW	17	35004984	missense	possibly damaging	0.90
R0559:Vars	UTSW	17	35014058	nonsense	probably null
R0730:Vars	UTSW	17	35014300	missense	probably damaging	1.00
R0748:Vars	UTSW	17	34998012	missense	probably damaging	1.00
R1692:Vars	UTSW	17	35013725	missense	probably damaging	1.00
R1693:Vars	UTSW	17	34998196	missense	probably benign	0.31
R1697:Vars	UTSW	17	34998222	missense	probably benign	0.43
R1699:Vars	UTSW	17	35014758	missense	possibly damaging	0.93
R1712:Vars	UTSW	17	35014752	missense	probably damaging	1.00
R1989:Vars	UTSW	17	35011838	missense	possibly damaging	0.94
R2349:Vars	UTSW	17	35015752	missense	probably benign
R2365:Vars	UTSW	17	35015452	missense	probably benign	0.01
R3790:Vars	UTSW	17	34999334	missense	probably benign	0.34
R4615:Vars	UTSW	17	35013881	missense	probably damaging	0.97
R4844:Vars	UTSW	17	35011612	missense	probably damaging	1.00
R4856:Vars	UTSW	17	35015726	missense	probably benign	0.37
R4886:Vars	UTSW	17	35015726	missense	probably benign	0.37
R5570:Vars	UTSW	17	35016238	missense	probably benign	0.04
R5858:Vars	UTSW	17	35005475	missense	probably benign	0.30
R5907:Vars	UTSW	17	35012376	missense	probably damaging	1.00
R5917:Vars	UTSW	17	35012515	missense	probably damaging	0.99
R5944:Vars	UTSW	17	35013644	missense	probably damaging	1.00
R6023:Vars	UTSW	17	35001609	missense	probably damaging	1.00
R6073:Vars	UTSW	17	35001529	missense	probably benign
R6273:Vars	UTSW	17	35013743	missense	probably damaging	1.00
R6390:Vars	UTSW	17	35015639	missense	probably benign	0.00
R6658:Vars	UTSW	17	35015741	missense	probably benign	0.03
R7067:Vars	UTSW	17	35011479	missense	probably damaging	0.98
R7387:Vars	UTSW	17	35004792	nonsense	probably null
R7954:Vars	UTSW	17	35015984	missense	probably benign	0.01
R8139:Vars	UTSW	17	35011504	missense	probably benign	0.16
R8347:Vars	UTSW	17	35015977	missense	possibly damaging	0.92
R8387:Vars	UTSW	17	35010514	missense	probably damaging	0.99
R8855:Vars	UTSW	17	35015644	missense	probably benign	0.00
R8866:Vars	UTSW	17	35015644	missense	probably benign	0.00
R9131:Vars	UTSW	17	35004797	missense	possibly damaging	0.77
R9620:Vars	UTSW	17	35016025	missense	unknown
R9695:Vars	UTSW	17	35012588	missense	possibly damaging	0.82
Z1177:Vars	UTSW	17	35011477	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCCCTCAGTATGTGGAG -3'
(R):5'- GCCTCGCTGACAGATTACTTG -3'

Sequencing Primer
(F):5'- AGGCTGCCTGGTATCCATG -3'
(R):5'- CTCGCTGACAGATTACTTGAACAGG -3'

Posted On

2017-01-03