Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:Vcl'

22060

Institutional Source

Beutler Lab

Gene Symbol

Vcl

Ensembl Gene

ENSMUSG00000021823

Gene Name

vinculin

Synonyms

metavinculin

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0137 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

20979466-21083744 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21037083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 227 (L227*)

Ref Sequence

ENSEMBL: ENSMUSP00000022369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022369]

AlphaFold

Q64727

Predicted Effect

probably null
Transcript: ENSMUST00000022369
AA Change: L227*

SMART Domains

Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: L227*

Domain	Start	End	E-Value	Type
Pfam:Vinculin	3	485	9e-203	PFAM
Pfam:Vinculin	475	1066	1.7e-301	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226113

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die by embryonic day 10 with failed midline fusion of the rostral neural tube, bilobular cranial development and compromised cranial and spinal nerve development. Abnormal myocardial and endocardial structures are seen in the heart. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	T	8: 120,878,115 (GRCm39)	H190L	possibly damaging	Het
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,432,259 (GRCm39)	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,582,388 (GRCm39)		probably null	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,058,324 (GRCm39)	S209A	probably benign	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,390,391 (GRCm39)	I721F	probably benign	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Npr1	C	T	3: 90,363,244 (GRCm39)	V879M	probably damaging	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rccd1	A	G	7: 79,970,326 (GRCm39)	V97A	possibly damaging	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,127,719 (GRCm39)	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	probably benign	Het

Other mutations in Vcl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Vcl	APN	14	21,037,071 (GRCm39)	missense	probably benign	0.00
IGL01755:Vcl	APN	14	21,046,038 (GRCm39)	missense	probably damaging	0.99
IGL01994:Vcl	APN	14	21,053,311 (GRCm39)	missense	probably damaging	1.00
IGL02128:Vcl	APN	14	21,070,645 (GRCm39)	missense	probably benign
IGL02168:Vcl	APN	14	21,057,355 (GRCm39)	missense	probably benign	0.21
IGL02502:Vcl	APN	14	21,069,453 (GRCm39)	missense	probably damaging	1.00
IGL02574:Vcl	APN	14	20,979,643 (GRCm39)	nonsense	probably null
IGL03103:Vcl	APN	14	21,074,348 (GRCm39)	missense	probably damaging	1.00
IGL03046:Vcl	UTSW	14	21,072,085 (GRCm39)	missense	possibly damaging	0.52
R0320:Vcl	UTSW	14	21,035,692 (GRCm39)	splice site	probably benign
R1442:Vcl	UTSW	14	21,033,446 (GRCm39)	missense	probably damaging	1.00
R1546:Vcl	UTSW	14	21,059,018 (GRCm39)	missense	probably damaging	1.00
R1692:Vcl	UTSW	14	21,074,250 (GRCm39)	missense	probably damaging	0.99
R1709:Vcl	UTSW	14	21,069,441 (GRCm39)	missense	probably benign	0.03
R1737:Vcl	UTSW	14	21,070,604 (GRCm39)	missense	probably damaging	1.00
R1848:Vcl	UTSW	14	21,059,063 (GRCm39)	missense	probably benign	0.03
R1902:Vcl	UTSW	14	21,032,767 (GRCm39)	missense	probably damaging	1.00
R4623:Vcl	UTSW	14	21,065,007 (GRCm39)	missense	probably benign	0.33
R4654:Vcl	UTSW	14	21,035,820 (GRCm39)	splice site	probably null
R5084:Vcl	UTSW	14	21,059,027 (GRCm39)	missense	possibly damaging	0.54
R5168:Vcl	UTSW	14	21,060,170 (GRCm39)	missense	probably damaging	1.00
R5275:Vcl	UTSW	14	21,060,146 (GRCm39)	missense	probably damaging	1.00
R6637:Vcl	UTSW	14	21,053,200 (GRCm39)	missense	probably damaging	1.00
R6859:Vcl	UTSW	14	21,037,143 (GRCm39)	missense	probably damaging	1.00
R7348:Vcl	UTSW	14	21,059,020 (GRCm39)	nonsense	probably null
R7348:Vcl	UTSW	14	21,053,218 (GRCm39)	missense	probably benign
R7532:Vcl	UTSW	14	21,079,392 (GRCm39)	missense	probably damaging	1.00
R7630:Vcl	UTSW	14	21,033,470 (GRCm39)	nonsense	probably null
R7650:Vcl	UTSW	14	21,045,114 (GRCm39)	missense	probably damaging	1.00
R7812:Vcl	UTSW	14	21,045,158 (GRCm39)	missense	probably benign	0.02
R8143:Vcl	UTSW	14	21,037,112 (GRCm39)	missense	possibly damaging	0.91
R8543:Vcl	UTSW	14	21,045,127 (GRCm39)	missense	probably benign	0.03
R8734:Vcl	UTSW	14	21,060,236 (GRCm39)	critical splice donor site	probably null
R8856:Vcl	UTSW	14	21,045,160 (GRCm39)	missense	probably benign	0.10
R9136:Vcl	UTSW	14	21,057,344 (GRCm39)	missense	probably benign	0.11
R9216:Vcl	UTSW	14	21,033,515 (GRCm39)	missense	probably damaging	1.00
R9239:Vcl	UTSW	14	21,072,092 (GRCm39)	missense	probably damaging	0.99
R9481:Vcl	UTSW	14	21,070,726 (GRCm39)	missense	probably benign	0.03
X0028:Vcl	UTSW	14	21,035,730 (GRCm39)	nonsense	probably null
X0060:Vcl	UTSW	14	21,070,844 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CCAATGATGTGTGGTGCTCCCTTTG -3'
(R):5'- TGGCTTTCTTAAGTTCCCTGGCAAC -3'

Sequencing Primer
(F):5'- GATTCAATGTATCAGAGACTGCC -3'
(R):5'- TTCTGTCCACCTTGGAACAAAG -3'

Posted On

2013-04-12