Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02502:Vcl'

296117

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vcl

Ensembl Gene

ENSMUSG00000021823

Gene Name

vinculin

Synonyms

metavinculin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02502

Quality Score

Status

Chromosome

Chromosomal Location

20979466-21083744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21069453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 710 (T710S)

Ref Sequence

ENSEMBL: ENSMUSP00000022369 (fasta)

Gene Model

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

AlphaFold

Q64727

Predicted Effect

probably damaging
Transcript: ENSMUST00000022369
AA Change: T710S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: T710S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224380

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,917,804 (GRCm39)	N216S	probably damaging	Het
Akap12	A	G	10: 4,303,163 (GRCm39)	D96G	probably damaging	Het
Akna	A	G	4: 63,286,440 (GRCm39)	V1353A	probably benign	Het
Ambra1	A	G	2: 91,730,877 (GRCm39)	D914G	probably damaging	Het
Ap1s3	A	G	1: 79,601,439 (GRCm39)	V84A	possibly damaging	Het
Arhgef6	T	C	X: 56,325,623 (GRCm39)	E282G	probably damaging	Het
C2cd2	G	T	16: 97,677,590 (GRCm39)	S378Y	possibly damaging	Het
Cd101	C	A	3: 100,919,141 (GRCm39)	A654S	probably damaging	Het
Cep295	A	C	9: 15,262,209 (GRCm39)		probably benign	Het
Csn1s1	A	G	5: 87,828,784 (GRCm39)	I283V	probably benign	Het
Cst3	A	G	2: 148,717,065 (GRCm39)		probably benign	Het
Cyp2b9	T	C	7: 25,887,239 (GRCm39)		probably null	Het
Dffb	A	G	4: 154,050,073 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,898,351 (GRCm39)	Y3711C	probably damaging	Het
Eif4g2	T	C	7: 110,680,748 (GRCm39)	S3G	probably damaging	Het
Erbb3	C	T	10: 128,406,153 (GRCm39)	R1088H	probably benign	Het
Evpl	T	C	11: 116,113,544 (GRCm39)	D1382G	probably damaging	Het
Fam168a	A	G	7: 100,473,417 (GRCm39)	D102G	probably damaging	Het
Fbxo7	A	G	10: 85,869,161 (GRCm39)	Y284C	probably damaging	Het
G6pd2	T	C	5: 61,966,971 (GRCm39)	Y249H	probably damaging	Het
Gm1123	A	T	9: 98,891,443 (GRCm39)	Y335*	probably null	Het
Gm5624	C	T	14: 44,797,296 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,844,635 (GRCm39)	M536K	possibly damaging	Het
Ikbkg	T	A	X: 73,487,433 (GRCm39)	V334E	probably benign	Het
Ipo7	T	C	7: 109,650,257 (GRCm39)	L769P	probably damaging	Het
Jmjd1c	A	T	10: 67,061,640 (GRCm39)	K1331I	probably benign	Het
Krt32	T	C	11: 99,978,749 (GRCm39)	K102E	probably damaging	Het
Lrrc34	A	T	3: 30,699,394 (GRCm39)	N20K	probably benign	Het
Lrrc47	A	G	4: 154,100,471 (GRCm39)	E349G	probably benign	Het
Mdn1	A	G	4: 32,670,579 (GRCm39)	I415V	possibly damaging	Het
Myh10	A	G	11: 68,705,198 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,462,836 (GRCm39)	S1376P	probably damaging	Het
Nfx1	T	C	4: 40,976,345 (GRCm39)		probably benign	Het
Nherf4	G	A	9: 44,160,948 (GRCm39)	A206V	probably benign	Het
Notch3	A	T	17: 32,377,252 (GRCm39)	C246*	probably null	Het
Nr3c2	A	G	8: 77,969,143 (GRCm39)	Y976C	probably damaging	Het
Or51b17	A	G	7: 103,542,696 (GRCm39)	V82A	probably damaging	Het
Or52n4b	T	A	7: 108,143,846 (GRCm39)	M36K	probably damaging	Het
Or5b122	A	G	19: 13,563,112 (GRCm39)	Y105C	probably damaging	Het
P2rx7	C	T	5: 122,819,050 (GRCm39)	R491C	possibly damaging	Het
Phex	T	A	X: 155,966,823 (GRCm39)	Y625F	possibly damaging	Het
Pkhd1	T	C	1: 20,462,389 (GRCm39)	D2055G	probably damaging	Het
Pmm2	T	C	16: 8,463,227 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,640,539 (GRCm39)	D16G	probably damaging	Het
Prune2	T	A	19: 17,101,245 (GRCm39)	C2250S	probably benign	Het
Rasgef1a	T	A	6: 118,057,443 (GRCm39)	F48Y	probably benign	Het
Rhoq	T	C	17: 87,271,077 (GRCm39)	V15A	probably damaging	Het
Rnf216	G	A	5: 143,054,622 (GRCm39)	A585V	probably damaging	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Shprh	T	A	10: 11,070,101 (GRCm39)	D1492E	possibly damaging	Het
Slc22a26	A	T	19: 7,768,125 (GRCm39)		probably null	Het
Tek	T	G	4: 94,741,818 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,741,051 (GRCm39)	E782G	probably damaging	Het
Trmt5	A	G	12: 73,328,001 (GRCm39)	C401R	probably benign	Het
Tspear	T	G	10: 77,688,792 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 38,030,933 (GRCm39)	T414I	probably benign	Het
Vmn2r25	A	T	6: 123,816,392 (GRCm39)	D396E	probably damaging	Het
Wtip	A	G	7: 33,818,094 (GRCm39)		probably null	Het
Zap70	A	G	1: 36,817,887 (GRCm39)		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
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
R0137:Vcl	UTSW	14	21,037,083 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16