Mutagenetix > Incidental Mutation

Incidental Mutation 'R1546:Vcl'

172209

Institutional Source

Beutler Lab

Gene Symbol

Vcl

Ensembl Gene

ENSMUSG00000021823

Gene Name

vinculin

Synonyms

metavinculin

MMRRC Submission

039585-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1546 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

20979466-21083744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21059018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 545 (C545S)

Ref Sequence

ENSEMBL: ENSMUSP00000022369 (fasta)

Gene Model

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

AlphaFold

Q64727

Predicted Effect

probably damaging
Transcript: ENSMUST00000022369
AA Change: C545S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: C545S

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,026,232 (GRCm39)	S251P	probably damaging	Het
Aaas	C	A	15: 102,255,153 (GRCm39)	R79L	probably benign	Het
Acap2	C	A	16: 30,923,754 (GRCm39)	E657*	probably null	Het
Adgrg5	A	T	8: 95,668,258 (GRCm39)	E441V	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
AY358078	C	T	14: 52,057,876 (GRCm39)		probably null	Het
Bco2	A	G	9: 50,461,929 (GRCm39)	V25A	possibly damaging	Het
Bltp1	T	C	3: 36,924,205 (GRCm39)	V10A	possibly damaging	Het
Carf	T	A	1: 60,165,195 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,401,741 (GRCm39)	I134L	probably benign	Het
Cgnl1	A	G	9: 71,633,097 (GRCm39)	S85P	probably benign	Het
Ctsl	A	G	13: 64,515,693 (GRCm39)	V126A	probably damaging	Het
Cwc27	A	C	13: 104,938,693 (GRCm39)	S206A	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,590 (GRCm39)	I1004T	probably damaging	Het
Dgki	A	G	6: 37,027,138 (GRCm39)	V401A	probably damaging	Het
Dpp8	C	T	9: 64,970,775 (GRCm39)	H545Y	possibly damaging	Het
Dpy19l1	A	T	9: 24,386,680 (GRCm39)	C205S	probably damaging	Het
Enpp2	C	T	15: 54,709,225 (GRCm39)	E797K	probably benign	Het
Ephb2	C	T	4: 136,498,320 (GRCm39)	R253H	probably damaging	Het
Esrra	T	C	19: 6,897,665 (GRCm39)	T31A	probably benign	Het
Ewsr1	C	A	11: 5,028,574 (GRCm39)		probably benign	Het
Flt4	G	T	11: 49,522,808 (GRCm39)	R475L	probably benign	Het
Gm13547	A	G	2: 29,653,921 (GRCm39)	E138G	possibly damaging	Het
Gm572	A	T	4: 148,751,276 (GRCm39)	R216S	possibly damaging	Het
H2ac8	A	G	13: 23,755,119 (GRCm39)	V55A	probably damaging	Het
Hapln2	T	A	3: 87,931,404 (GRCm39)	Y37F	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,302 (GRCm39)		probably benign	Het
Hhla1	C	T	15: 65,805,176 (GRCm39)	A369T	probably benign	Het
Hmg20a	T	A	9: 56,374,685 (GRCm39)	F14I	possibly damaging	Het
Iqca1l	A	T	5: 24,760,426 (GRCm39)		probably null	Het
Itga2	A	T	13: 114,985,956 (GRCm39)	S940T	possibly damaging	Het
Kcnt2	A	G	1: 140,359,116 (GRCm39)	N377S	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lhx6	A	G	2: 35,981,049 (GRCm39)	S298P	probably benign	Het
Lrp2	C	T	2: 69,332,954 (GRCm39)	G1521D	probably damaging	Het
Mogat2	A	G	7: 98,881,766 (GRCm39)	W57R	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myo1a	A	G	10: 127,548,493 (GRCm39)	D380G	probably damaging	Het
Nufip2	T	A	11: 77,582,432 (GRCm39)	D115E	probably damaging	Het
Ogn	A	T	13: 49,762,809 (GRCm39)	K50N	probably benign	Het
Or5ac20	T	C	16: 59,104,366 (GRCm39)	R165G	probably damaging	Het
Or8c10	A	T	9: 38,278,844 (GRCm39)	M1L	probably benign	Het
Pde8b	G	A	13: 95,182,951 (GRCm39)	T269I	probably damaging	Het
Ppargc1b	A	T	18: 61,443,677 (GRCm39)	D495E	probably damaging	Het
Prdm16	C	A	4: 154,613,117 (GRCm39)	K103N	possibly damaging	Het
Proc	C	T	18: 32,260,463 (GRCm39)	G221S	probably damaging	Het
Pxk	A	G	14: 8,164,091 (GRCm38)	N561S	probably damaging	Het
Rapgef5	A	G	12: 117,610,721 (GRCm39)	N323S	probably benign	Het
Slc6a13	T	G	6: 121,309,333 (GRCm39)	D281E	possibly damaging	Het
Slc8a1	T	C	17: 81,955,676 (GRCm39)	Y454C	probably damaging	Het
Sntg2	C	A	12: 30,338,295 (GRCm39)	L115F	probably damaging	Het
Spata13	A	G	14: 60,993,857 (GRCm39)	D1103G	probably damaging	Het
Supv3l1	G	A	10: 62,268,225 (GRCm39)	A540V	probably benign	Het
Tet1	A	T	10: 62,648,689 (GRCm39)	D1914E	probably damaging	Het
Tmem30a	A	G	9: 79,678,570 (GRCm39)	*329Q	probably null	Het
Tspan5	A	T	3: 138,604,102 (GRCm39)	L162F	probably damaging	Het
Ttn	T	A	2: 76,549,396 (GRCm39)	K31760N	probably damaging	Het
Tyr	A	T	7: 87,087,200 (GRCm39)	D437E	probably benign	Het
Ubr4	T	A	4: 139,144,238 (GRCm39)	L1427*	probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vcan	A	G	13: 89,841,075 (GRCm39)	S1490P	probably damaging	Het
Vmn2r4	C	T	3: 64,314,309 (GRCm39)	G224D	probably damaging	Het
Vmn2r97	T	A	17: 19,168,110 (GRCm39)	V788E	probably damaging	Het
Vrtn	G	A	12: 84,695,282 (GRCm39)	V11M	probably damaging	Het
Zbtb21	A	T	16: 97,753,227 (GRCm39)	V380D	probably damaging	Het
Zcchc14	G	A	8: 122,331,002 (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
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
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
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'- CTGCTCATTGGGAAGAATGGGAGTC -3'
(R):5'- AAATCTCAAGCCTCAGGCCAAGATG -3'

Sequencing Primer
(F):5'- CCCCAAAAGTTAGTGCATAGTG -3'
(R):5'- tcccagaacaatgagatgcc -3'

Posted On

2014-04-13