Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Vars1'

573219

Institutional Source

Beutler Lab

Gene Symbol

Vars1

Ensembl Gene

ENSMUSG00000007029

Gene Name

valyl-tRNA synthetase 1

Synonyms

Bat6, Vars2, G7a, Bat-6, D17H6S56E, Vars

MMRRC Submission

045469-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35219963-35235298 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 35223768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 228 (Q228*)

Ref Sequence

ENSEMBL: ENSMUSP00000133994 (fasta)

Gene Model

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

AlphaFold

Q9Z1Q9

Predicted Effect

probably null
Transcript: ENSMUST00000087315
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029
AA Change: Q228*

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
AA Change: Q106*

SMART Domains

Protein: ENSMUSP00000134245
Gene: ENSMUSG00000007029
AA Change: Q106*

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

probably null
Transcript: ENSMUST00000173584
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029
AA Change: Q228*

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
AA Change: Q228*

SMART Domains

Protein: ENSMUSP00000134313
Gene: ENSMUSG00000007029
AA Change: Q228*

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,774 (GRCm39)	Y182H	probably damaging	Het
Abca6	A	G	11: 110,093,246 (GRCm39)	V1009A	probably benign	Het
Abcg2	A	T	6: 58,666,609 (GRCm39)	I573F	possibly damaging	Het
Adck1	A	G	12: 88,427,822 (GRCm39)	T480A	probably benign	Het
Adcy5	T	C	16: 35,092,460 (GRCm39)	I607T	probably damaging	Het
Add2	A	G	6: 86,062,997 (GRCm39)	K52E	probably damaging	Het
Arid4a	T	A	12: 71,134,270 (GRCm39)	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,305,198 (GRCm39)	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,589,034 (GRCm39)	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,520,741 (GRCm39)	L224P	possibly damaging	Het
BC035947	A	G	1: 78,475,098 (GRCm39)	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,634,375 (GRCm39)	V17A	unknown	Het
Cad	T	C	5: 31,219,284 (GRCm39)	Y669H	probably damaging	Het
Ccdc110	A	T	8: 46,395,233 (GRCm39)	M375L	probably benign	Het
Cdc6	C	T	11: 98,799,042 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,874,111 (GRCm39)	Y72*	probably null	Het
Cenpe	T	G	3: 134,952,798 (GRCm39)	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,899,016 (GRCm39)	C28W	possibly damaging	Het
Cma2	A	G	14: 56,210,505 (GRCm39)	N120S	probably benign	Het
Cped1	A	T	6: 22,059,933 (GRCm39)	I200L	probably benign	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,189,595 (GRCm39)	Q18*	probably null	Het
Dpp10	T	C	1: 123,268,869 (GRCm39)	E720G	probably benign	Het
Dus2	G	A	8: 106,772,619 (GRCm39)	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932 (GRCm39)	N769S	possibly damaging	Het
Ece1	T	A	4: 137,666,095 (GRCm39)	I313N	possibly damaging	Het
Ern1	A	T	11: 106,312,778 (GRCm39)	V201E	probably damaging	Het
Exoc3l	A	G	8: 106,021,605 (GRCm39)	L141P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fez1	T	C	9: 36,779,108 (GRCm39)	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,357,101 (GRCm39)	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,533,207 (GRCm39)	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,878,488 (GRCm39)	P28S	probably benign	Het
Inka1	C	T	9: 107,861,626 (GRCm39)	R230H	probably damaging	Het
Iqgap1	C	T	7: 80,370,738 (GRCm39)	V1544I	probably benign	Het
Itga10	A	T	3: 96,560,094 (GRCm39)	Q536L	probably benign	Het
Itih2	C	T	2: 10,135,319 (GRCm39)	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,689,781 (GRCm39)	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,777 (GRCm39)	S160R	probably benign	Het
Kif11	T	A	19: 37,398,204 (GRCm39)	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,301,828 (GRCm39)	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,306,959 (GRCm39)	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,346,025 (GRCm39)	T426A	probably damaging	Het
Mcidas	T	C	13: 113,130,622 (GRCm39)	F40L	probably benign	Het
Med27	T	A	2: 29,303,419 (GRCm39)	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,023,364 (GRCm39)	V249A	probably benign	Het
Mllt6	C	A	11: 97,565,426 (GRCm39)	A592D	probably benign	Het
Mrps5	C	T	2: 127,442,804 (GRCm39)	T291I	probably damaging	Het
Muc16	T	A	9: 18,553,016 (GRCm39)	T4426S	probably benign	Het
Myh1	A	T	11: 67,099,715 (GRCm39)	M542L	probably benign	Het
Nlrp12	G	T	7: 3,289,831 (GRCm39)	A227D	probably damaging	Het
Nlrp14	T	C	7: 106,782,314 (GRCm39)	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,086,442 (GRCm39)	S8G	probably benign	Het
Ntrk2	A	G	13: 59,133,793 (GRCm39)	K524R	probably damaging	Het
Nup210	C	T	6: 90,998,378 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	T	A	2: 88,356,744 (GRCm39)	Y272*	probably null	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5h27	A	T	16: 59,006,699 (GRCm39)	I49N	probably damaging	Het
Patl1	A	G	19: 11,911,094 (GRCm39)	I525M	probably benign	Het
Pcnx3	A	G	19: 5,723,364 (GRCm39)	L1277P	probably benign	Het
Pelp1	G	A	11: 70,287,425 (GRCm39)	T461I	probably damaging	Het
Phf20	T	C	2: 156,136,160 (GRCm39)	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,851,203 (GRCm39)	Y1193F		Het
Pknox2	G	T	9: 36,868,364 (GRCm39)		probably benign	Het
Pml	T	C	9: 58,137,177 (GRCm39)	T541A	probably benign	Het
Prss35	C	T	9: 86,637,974 (GRCm39)	T248I	probably damaging	Het
Rccd1	T	A	7: 79,970,350 (GRCm39)	N89I	probably benign	Het
Rcor3	T	C	1: 191,821,824 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,131,040 (GRCm39)	E16G	unknown	Het
Scgb2b12	T	A	7: 32,026,060 (GRCm39)	H44L	probably benign	Het
Sec23ip	C	T	7: 128,346,727 (GRCm39)		probably benign	Het
Sgsm1	A	C	5: 113,411,566 (GRCm39)	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841 (GRCm39)	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,941,293 (GRCm39)	V253A	probably damaging	Het
Spopl	A	T	2: 23,427,521 (GRCm39)	F204I	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stil	T	G	4: 114,881,233 (GRCm39)	H592Q	probably benign	Het
Strip1	T	A	3: 107,533,046 (GRCm39)	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,530,275 (GRCm39)	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,447,180 (GRCm39)		probably null	Het
Tmem184c	A	T	8: 78,324,559 (GRCm39)	Y310*	probably null	Het
Tmem30c	T	C	16: 57,090,386 (GRCm39)	N274D	probably benign	Het
Trim30c	T	A	7: 104,039,397 (GRCm39)	I133F	probably damaging	Het
Zdbf2	G	A	1: 63,343,198 (GRCm39)	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,262,065 (GRCm39)		probably null	Het

Other mutations in Vars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Vars1	APN	17	35,232,849 (GRCm39)	missense	probably benign	0.00
IGL02160:Vars1	APN	17	35,220,478 (GRCm39)	missense	probably damaging	1.00
IGL02303:Vars1	APN	17	35,234,460 (GRCm39)	splice site	probably benign
IGL03027:Vars1	APN	17	35,232,663 (GRCm39)	missense	probably damaging	1.00
Maladroit	UTSW	17	35,224,451 (GRCm39)	missense	probably benign	0.30
Whoops	UTSW	17	35,232,620 (GRCm39)	missense	probably damaging	1.00
FR4304:Vars1	UTSW	17	35,234,965 (GRCm39)	small insertion	probably benign
FR4548:Vars1	UTSW	17	35,234,967 (GRCm39)	small insertion	probably benign
FR4548:Vars1	UTSW	17	35,234,965 (GRCm39)	small insertion	probably benign
FR4589:Vars1	UTSW	17	35,234,964 (GRCm39)	small insertion	probably benign
R0045:Vars1	UTSW	17	35,229,595 (GRCm39)	missense	probably damaging	1.00
R0045:Vars1	UTSW	17	35,229,595 (GRCm39)	missense	probably damaging	1.00
R0045:Vars1	UTSW	17	35,217,042 (GRCm39)	missense	probably benign	0.13
R0266:Vars1	UTSW	17	35,232,845 (GRCm39)	missense	probably benign	0.00
R0267:Vars1	UTSW	17	35,230,572 (GRCm39)	splice site	probably benign
R0391:Vars1	UTSW	17	35,230,462 (GRCm39)	missense	possibly damaging	0.79
R0445:Vars1	UTSW	17	35,230,785 (GRCm39)	missense	probably benign	0.31
R0449:Vars1	UTSW	17	35,231,703 (GRCm39)	splice site	probably null
R0557:Vars1	UTSW	17	35,223,960 (GRCm39)	missense	possibly damaging	0.90
R0559:Vars1	UTSW	17	35,233,034 (GRCm39)	nonsense	probably null
R0730:Vars1	UTSW	17	35,233,276 (GRCm39)	missense	probably damaging	1.00
R0748:Vars1	UTSW	17	35,216,988 (GRCm39)	missense	probably damaging	1.00
R1692:Vars1	UTSW	17	35,232,701 (GRCm39)	missense	probably damaging	1.00
R1693:Vars1	UTSW	17	35,217,172 (GRCm39)	missense	probably benign	0.31
R1697:Vars1	UTSW	17	35,217,198 (GRCm39)	missense	probably benign	0.43
R1699:Vars1	UTSW	17	35,233,734 (GRCm39)	missense	possibly damaging	0.93
R1712:Vars1	UTSW	17	35,233,728 (GRCm39)	missense	probably damaging	1.00
R1989:Vars1	UTSW	17	35,230,814 (GRCm39)	missense	possibly damaging	0.94
R2349:Vars1	UTSW	17	35,234,728 (GRCm39)	missense	probably benign
R2365:Vars1	UTSW	17	35,234,428 (GRCm39)	missense	probably benign	0.01
R3790:Vars1	UTSW	17	35,218,310 (GRCm39)	missense	probably benign	0.34
R4615:Vars1	UTSW	17	35,232,857 (GRCm39)	missense	probably damaging	0.97
R4844:Vars1	UTSW	17	35,230,588 (GRCm39)	missense	probably damaging	1.00
R4856:Vars1	UTSW	17	35,234,702 (GRCm39)	missense	probably benign	0.37
R4886:Vars1	UTSW	17	35,234,702 (GRCm39)	missense	probably benign	0.37
R5570:Vars1	UTSW	17	35,235,214 (GRCm39)	missense	probably benign	0.04
R5706:Vars1	UTSW	17	35,224,457 (GRCm39)	splice site	probably null
R5858:Vars1	UTSW	17	35,224,451 (GRCm39)	missense	probably benign	0.30
R5907:Vars1	UTSW	17	35,231,352 (GRCm39)	missense	probably damaging	1.00
R5917:Vars1	UTSW	17	35,231,491 (GRCm39)	missense	probably damaging	0.99
R5944:Vars1	UTSW	17	35,232,620 (GRCm39)	missense	probably damaging	1.00
R6023:Vars1	UTSW	17	35,220,585 (GRCm39)	missense	probably damaging	1.00
R6073:Vars1	UTSW	17	35,220,505 (GRCm39)	missense	probably benign
R6273:Vars1	UTSW	17	35,232,719 (GRCm39)	missense	probably damaging	1.00
R6390:Vars1	UTSW	17	35,234,615 (GRCm39)	missense	probably benign	0.00
R6658:Vars1	UTSW	17	35,234,717 (GRCm39)	missense	probably benign	0.03
R7067:Vars1	UTSW	17	35,230,455 (GRCm39)	missense	probably damaging	0.98
R7954:Vars1	UTSW	17	35,234,960 (GRCm39)	missense	probably benign	0.01
R8139:Vars1	UTSW	17	35,230,480 (GRCm39)	missense	probably benign	0.16
R8347:Vars1	UTSW	17	35,234,953 (GRCm39)	missense	possibly damaging	0.92
R8387:Vars1	UTSW	17	35,229,490 (GRCm39)	missense	probably damaging	0.99
R8855:Vars1	UTSW	17	35,234,620 (GRCm39)	missense	probably benign	0.00
R8866:Vars1	UTSW	17	35,234,620 (GRCm39)	missense	probably benign	0.00
R9131:Vars1	UTSW	17	35,223,773 (GRCm39)	missense	possibly damaging	0.77
R9620:Vars1	UTSW	17	35,235,001 (GRCm39)	missense	unknown
R9695:Vars1	UTSW	17	35,231,564 (GRCm39)	missense	possibly damaging	0.82
Z1177:Vars1	UTSW	17	35,230,453 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCACTCAACAGCCAGGTG -3'
(R):5'- TCTGTTCAGAAGAAGACACAGAC -3'

Sequencing Primer
(F):5'- GGCACAAGGGCCCCTTTTATC -3'
(R):5'- GAAGAAGACACAGACCCAAACATGAG -3'

Posted On

2019-09-13