Mutagenetix > Incidental Mutation

Incidental Mutation 'R7050:Vinac1'

568675

Institutional Source

Beutler Lab

Gene Symbol

Vinac1

Ensembl Gene

ENSMUSG00000079051

Gene Name

vinculin/alpha-catenin family member 1

Synonyms

Gm14025

MMRRC Submission

045241-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7050 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

128866993-128890092 bp(-) (GRCm39)

Type of Mutation

splice site (98 bp from exon)

DNA Base Change (assembly)

T to C at 128869891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000145798]

AlphaFold

A2AP89

Predicted Effect

probably null
Transcript: ENSMUST00000145798

SMART Domains

Protein: ENSMUSP00000123404
Gene: ENSMUSG00000079051

Domain	Start	End	E-Value	Type
Pfam:Vinculin	14	248	5.8e-18	PFAM
Pfam:Vinculin	281	619	2.1e-20	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,864,544 (GRCm39)	A346V	possibly damaging	Het
Adcy5	A	T	16: 35,124,070 (GRCm39)	M1250L	possibly damaging	Het
Arhgef38	T	C	3: 132,839,388 (GRCm39)		probably benign	Het
Ascc3	T	A	10: 50,716,446 (GRCm39)	I1944N	probably benign	Het
Cabin1	G	T	10: 75,549,376 (GRCm39)	P1343Q	probably damaging	Het
Cbr3	A	T	16: 93,487,282 (GRCm39)	Q155L	possibly damaging	Het
Cd44	A	G	2: 102,644,482 (GRCm39)	V577A	probably damaging	Het
Coil	C	T	11: 88,872,014 (GRCm39)	T125I	possibly damaging	Het
Fmo3	T	C	1: 162,791,473 (GRCm39)	N268S	probably damaging	Het
Fnip2	T	C	3: 79,413,577 (GRCm39)	T248A	probably damaging	Het
Ggt7	G	A	2: 155,348,295 (GRCm39)	T43I	probably benign	Het
Gm3250	C	A	10: 77,617,814 (GRCm39)	C188F	possibly damaging	Het
Iqce	G	A	5: 140,651,846 (GRCm39)	S375F	possibly damaging	Het
Iqgap3	A	G	3: 88,006,220 (GRCm39)	T544A	probably damaging	Het
Islr	A	G	9: 58,065,000 (GRCm39)	L169P	probably damaging	Het
Kdr	G	T	5: 76,110,780 (GRCm39)	T904N	probably damaging	Het
Mink1	A	G	11: 70,503,158 (GRCm39)	T974A	possibly damaging	Het
Mms19	A	G	19: 41,939,185 (GRCm39)		probably null	Het
Mycl	T	C	4: 122,890,813 (GRCm39)		probably null	Het
Nab1	A	T	1: 52,529,894 (GRCm39)	M1K	probably null	Het
Naip6	C	T	13: 100,452,007 (GRCm39)	G202R	probably damaging	Het
Nbeal2	G	A	9: 110,457,788 (GRCm39)	S2159L	probably damaging	Het
Neb	A	T	2: 52,112,888 (GRCm39)	M4302K	possibly damaging	Het
Npy1r	A	G	8: 67,157,192 (GRCm39)	D204G	probably benign	Het
Or2q1	T	A	6: 42,794,504 (GRCm39)	V33D	possibly damaging	Het
Pkdcc	T	A	17: 83,523,073 (GRCm39)	I60N	possibly damaging	Het
Plcxd3	T	C	15: 4,546,200 (GRCm39)	V68A	probably damaging	Het
Prss36	G	T	7: 127,543,937 (GRCm39)	R145S	possibly damaging	Het
Pygl	C	A	12: 70,266,396 (GRCm39)	G40C	probably damaging	Het
Rev1	A	G	1: 38,093,352 (GRCm39)	L1064P	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3k	T	C	12: 104,307,403 (GRCm39)	F212L	possibly damaging	Het
Slc16a4	A	T	3: 107,208,148 (GRCm39)	E219D	probably benign	Het
Slc6a20b	A	T	9: 123,427,608 (GRCm39)	W434R	probably damaging	Het
Slco1c1	T	A	6: 141,493,652 (GRCm39)	F278Y	probably damaging	Het
Tbx21	T	G	11: 97,005,596 (GRCm39)	D123A	probably benign	Het
Trp73	A	G	4: 154,165,899 (GRCm39)	F35L	probably damaging	Het
Tspan17	T	C	13: 54,943,876 (GRCm39)	V135A	probably benign	Het
Uba2	G	A	7: 33,845,687 (GRCm39)	Q479*	probably null	Het
Ubr2	A	G	17: 47,272,528 (GRCm39)	V889A	probably benign	Het
Unc80	A	G	1: 66,590,067 (GRCm39)		probably null	Het
Vmn1r45	A	T	6: 89,910,703 (GRCm39)	I89N	probably damaging	Het
Vmn2r11	A	G	5: 109,202,657 (GRCm39)	I140T	probably benign	Het
Yipf2	A	T	9: 21,503,474 (GRCm39)	D24E	probably benign	Het
Zfp251	T	G	15: 76,738,496 (GRCm39)	Q199P	possibly damaging	Het
Zfp37	A	T	4: 62,109,908 (GRCm39)	N385K	possibly damaging	Het
Zfp655	G	A	5: 145,181,545 (GRCm39)	E468K	probably benign	Het

Other mutations in Vinac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Vinac1	APN	2	128,880,622 (GRCm39)	missense	probably benign	0.01
IGL02423:Vinac1	APN	2	128,889,968 (GRCm39)	missense	probably benign	0.03
IGL02730:Vinac1	APN	2	128,880,646 (GRCm39)	missense	possibly damaging	0.57
PIT4677001:Vinac1	UTSW	2	128,880,636 (GRCm39)	missense
R0019:Vinac1	UTSW	2	128,880,946 (GRCm39)	missense	probably benign	0.26
R3946:Vinac1	UTSW	2	128,881,521 (GRCm39)	missense	probably damaging	1.00
R4666:Vinac1	UTSW	2	128,880,150 (GRCm39)	missense	probably benign	0.02
R4819:Vinac1	UTSW	2	128,882,721 (GRCm39)	missense	probably damaging	0.96
R5634:Vinac1	UTSW	2	128,881,406 (GRCm39)	missense	probably benign
R6019:Vinac1	UTSW	2	128,879,610 (GRCm39)	missense	probably benign
R6241:Vinac1	UTSW	2	128,879,301 (GRCm39)	missense	possibly damaging	0.87
R6285:Vinac1	UTSW	2	128,879,719 (GRCm39)	missense	possibly damaging	0.82
R6377:Vinac1	UTSW	2	128,878,731 (GRCm39)	missense	unknown
R6464:Vinac1	UTSW	2	128,881,465 (GRCm39)	missense	possibly damaging	0.85
R6724:Vinac1	UTSW	2	128,879,976 (GRCm39)	missense	probably benign	0.23
R7130:Vinac1	UTSW	2	128,881,101 (GRCm39)	missense
R7199:Vinac1	UTSW	2	128,880,238 (GRCm39)	missense
R7324:Vinac1	UTSW	2	128,879,772 (GRCm39)	missense	unknown
R7355:Vinac1	UTSW	2	128,879,149 (GRCm39)	missense	unknown
R7407:Vinac1	UTSW	2	128,880,729 (GRCm39)	missense
R7634:Vinac1	UTSW	2	128,880,192 (GRCm39)	missense
R7688:Vinac1	UTSW	2	128,880,964 (GRCm39)	nonsense	probably null
R7889:Vinac1	UTSW	2	128,878,914 (GRCm39)	missense	unknown
R7894:Vinac1	UTSW	2	128,879,049 (GRCm39)	missense	unknown
R8242:Vinac1	UTSW	2	128,881,313 (GRCm39)	nonsense	probably null
R8373:Vinac1	UTSW	2	128,880,091 (GRCm39)	missense
R8927:Vinac1	UTSW	2	128,882,789 (GRCm39)	missense
R8928:Vinac1	UTSW	2	128,882,789 (GRCm39)	missense
R9231:Vinac1	UTSW	2	128,879,340 (GRCm39)	missense	unknown
R9504:Vinac1	UTSW	2	128,881,189 (GRCm39)	missense
R9505:Vinac1	UTSW	2	128,878,838 (GRCm39)	missense	unknown
R9608:Vinac1	UTSW	2	128,878,550 (GRCm39)	nonsense	probably null
R9682:Vinac1	UTSW	2	128,875,529 (GRCm39)	missense	unknown
R9760:Vinac1	UTSW	2	128,880,499 (GRCm39)	missense
RF002:Vinac1	UTSW	2	128,880,714 (GRCm39)	missense
X0066:Vinac1	UTSW	2	128,880,987 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CTGAGCCATGTTATCAGAAAAGAAG -3'
(R):5'- GTTGACAATGCACAGAGGCTC -3'

Sequencing Primer
(F):5'- CATACATACATGGGTCCAGGCTTG -3'
(R):5'- ATGCACAGAGGCTCCTCCAG -3'

Posted On

2019-09-11