Mutagenetix > Incidental Mutation

Incidental Mutation 'R1902:Vcl'

212382

Institutional Source

Beutler Lab

Gene Symbol

Vcl

Ensembl Gene

ENSMUSG00000021823

Gene Name

vinculin

Synonyms

metavinculin

MMRRC Submission

039922-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20979466-21083744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21032767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 122 (L122Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022369 (fasta)

Gene Model

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

AlphaFold

Q64727

Predicted Effect

probably damaging
Transcript: ENSMUST00000022369
AA Change: L122Q

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

SMART Domains

Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: L122Q

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.7%

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	T	12: 18,584,004 (GRCm39)	Q355*	probably null	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adra1a	T	C	14: 66,875,684 (GRCm39)	S220P	probably benign	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgap45	C	A	10: 79,861,300 (GRCm39)	Q488K	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Atxn7l3b	A	G	10: 112,764,578 (GRCm39)	I17T	probably benign	Het
Bpifb9a	A	T	2: 154,103,911 (GRCm39)	N118I	probably benign	Het
Btbd9	A	T	17: 30,749,202 (GRCm39)	D37E	probably damaging	Het
C8a	T	C	4: 104,713,798 (GRCm39)		probably null	Het
Capn13	G	A	17: 73,633,356 (GRCm39)	S535F	probably damaging	Het
Carns1	G	T	19: 4,216,337 (GRCm39)	P615Q	probably damaging	Het
Casz1	T	C	4: 149,020,652 (GRCm39)	I479T	possibly damaging	Het
Ccdc88a	G	T	11: 29,411,788 (GRCm39)	M532I	probably benign	Het
Cdc42bpb	T	G	12: 111,292,450 (GRCm39)	S362R	probably damaging	Het
Ceacam11	A	T	7: 17,709,252 (GRCm39)	H150L	probably benign	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Cpeb1	T	C	7: 81,021,867 (GRCm39)	D92G	probably benign	Het
Cped1	T	A	6: 22,120,980 (GRCm39)		probably null	Het
Csf1r	A	G	18: 61,263,213 (GRCm39)	T896A	probably damaging	Het
Csf3r	T	C	4: 125,936,711 (GRCm39)	F658S	probably damaging	Het
Cts6	A	T	13: 61,349,329 (GRCm39)	Y126*	probably null	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Cxcl5	T	C	5: 90,907,644 (GRCm39)	V72A	probably damaging	Het
Cyp4v3	T	A	8: 45,759,989 (GRCm39)	H521L	probably benign	Het
Dct	T	C	14: 118,271,690 (GRCm39)	N380S	probably benign	Het
Dnah1	T	C	14: 31,041,716 (GRCm39)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,574,637 (GRCm39)	D1709G	probably damaging	Het
Dnai1	A	T	4: 41,625,319 (GRCm39)	K428*	probably null	Het
Dsc1	A	T	18: 20,229,045 (GRCm39)	V415D	probably damaging	Het
E2f8	T	C	7: 48,520,920 (GRCm39)	H467R	probably benign	Het
Eddm3b	T	A	14: 51,354,321 (GRCm39)	I103N	probably damaging	Het
Gal3st2c	T	G	1: 93,936,611 (GRCm39)	N185K	probably damaging	Het
Ganc	T	C	2: 120,276,963 (GRCm39)	L675P	probably damaging	Het
Garin3	A	T	11: 46,297,838 (GRCm39)	T381S	probably benign	Het
Gdf9	G	A	11: 53,327,780 (GRCm39)	M245I	probably benign	Het
Gm21886	G	A	18: 80,132,633 (GRCm39)	T175I	probably damaging	Het
Gria2	A	G	3: 80,629,415 (GRCm39)	L269P	probably damaging	Het
Grm8	T	C	6: 27,429,481 (GRCm39)	Y471C	probably damaging	Het
Gucy2g	T	A	19: 55,198,669 (GRCm39)	T825S	probably benign	Het
H2-T13	A	T	17: 36,394,845 (GRCm39)	M16K	probably damaging	Het
Iffo2	T	C	4: 139,335,012 (GRCm39)	S124P	probably damaging	Het
Igf1r	T	C	7: 67,850,997 (GRCm39)	Y931H	possibly damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Itgb4	T	C	11: 115,871,564 (GRCm39)	V179A	probably damaging	Het
Itpr2	T	A	6: 146,131,201 (GRCm39)	H1968L	probably damaging	Het
Kdm4a	A	G	4: 118,017,596 (GRCm39)	V490A	probably benign	Het
Kif13a	A	T	13: 46,941,638 (GRCm39)	D946E	probably benign	Het
Klhl22	T	A	16: 17,589,651 (GRCm39)	I104N	probably damaging	Het
Klk6	A	C	7: 43,475,481 (GRCm39)	M1L	probably benign	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Larp7	A	T	3: 127,334,227 (GRCm39)	N533K	probably damaging	Het
Lrit3	T	C	3: 129,584,895 (GRCm39)	T288A	probably benign	Het
Lrp11	T	A	10: 7,499,544 (GRCm39)	L245Q	probably damaging	Het
Lrp1b	T	C	2: 40,750,673 (GRCm39)	S2964G	probably damaging	Het
Lrrc66	C	T	5: 73,764,965 (GRCm39)	V693M	probably damaging	Het
Macf1	T	A	4: 123,364,958 (GRCm39)	M3268L	probably benign	Het
Mad1l1	A	G	5: 140,289,443 (GRCm39)	S161P	possibly damaging	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Morc3	A	G	16: 93,667,385 (GRCm39)	T588A	probably damaging	Het
Mospd3	A	G	5: 137,598,677 (GRCm39)	S21P	probably damaging	Het
Mrpl57	T	A	14: 58,064,186 (GRCm39)	F71L	probably damaging	Het
Mtbp	T	C	15: 55,470,111 (GRCm39)	L594S	probably damaging	Het
Mthfd2	T	C	6: 83,283,713 (GRCm39)	N323S	probably damaging	Het
Muc5b	G	T	7: 141,417,842 (GRCm39)	S3596I	possibly damaging	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncoa1	A	T	12: 4,389,049 (GRCm39)	D75E	possibly damaging	Het
Ncor1	A	C	11: 62,228,984 (GRCm39)	I958S	probably damaging	Het
Nefm	T	C	14: 68,361,563 (GRCm39)	S234G	probably benign	Het
Nlrp4c	T	C	7: 6,068,818 (GRCm39)	S240P	probably damaging	Het
Nox3	C	T	17: 3,720,292 (GRCm39)	V298M	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Nudt13	C	G	14: 20,360,709 (GRCm39)	T174R	probably damaging	Het
Odr4	T	A	1: 150,264,360 (GRCm39)		probably null	Het
Opn1sw	T	A	6: 29,379,803 (GRCm39)	N144Y	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10g3	T	G	14: 52,610,174 (GRCm39)	Q112P	possibly damaging	Het
Or1l8	T	C	2: 36,817,197 (GRCm39)	I310V	probably benign	Het
Or2a52	T	A	6: 43,144,657 (GRCm39)		probably null	Het
Or4a72	A	T	2: 89,405,947 (GRCm39)	L41Q	possibly damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Or5g25	T	C	2: 85,478,201 (GRCm39)	S155G	possibly damaging	Het
Or6c216	G	T	10: 129,678,375 (GRCm39)	P179T	probably benign	Het
Or6n2	T	C	1: 173,897,692 (GRCm39)	V276A	probably damaging	Het
Or8g4	T	C	9: 39,662,102 (GRCm39)	V140A	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Parp14	C	T	16: 35,673,888 (GRCm39)		probably null	Het
Pde3a	C	A	6: 141,444,496 (GRCm39)	N1101K	probably benign	Het
Plcb1	G	A	2: 134,655,533 (GRCm39)	V38I	possibly damaging	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Ppfibp2	C	T	7: 107,345,585 (GRCm39)	P869L	probably damaging	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Pramel5	G	A	4: 144,000,433 (GRCm39)	Q48*	probably null	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Psg22	T	A	7: 18,458,363 (GRCm39)	Y312*	probably null	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
Rasa4	A	G	5: 136,120,092 (GRCm39)	D56G	probably benign	Het
Rif1	T	A	2: 52,006,685 (GRCm39)	N2206K	possibly damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Samd4	T	C	14: 47,311,585 (GRCm39)	F81S	probably damaging	Het
Sh3pxd2b	T	C	11: 32,373,559 (GRCm39)	*909Q	probably null	Het
Slc25a45	A	G	19: 5,934,550 (GRCm39)	R173G	probably damaging	Het
Smarca1	G	A	X: 46,938,840 (GRCm39)	Q723*	probably null	Het
Smoc1	T	C	12: 81,151,445 (GRCm39)	I54T	probably benign	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Steap3	T	G	1: 120,169,464 (GRCm39)	I240L	probably benign	Het
Stmn4	C	T	14: 66,593,058 (GRCm39)	L13F	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Syt3	T	C	7: 44,039,940 (GRCm39)	S58P	possibly damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tbc1d19	T	A	5: 53,986,695 (GRCm39)	C35S	probably benign	Het
Tcaf3	T	C	6: 42,570,486 (GRCm39)	E422G	possibly damaging	Het
Tekt4	T	A	17: 25,690,832 (GRCm39)	F46Y	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,937 (GRCm39)	K148E	probably benign	Het
Trrap	T	G	5: 144,752,863 (GRCm39)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,978,361 (GRCm39)	E137G	probably benign	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Tyro3	T	C	2: 119,632,176 (GRCm39)	I81T	possibly damaging	Het
Upp2	T	G	2: 58,661,464 (GRCm39)	M71R	probably damaging	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vmn1r213	A	C	13: 23,196,476 (GRCm39)	N353T	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp869	T	C	8: 70,160,088 (GRCm39)	K162E	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
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
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'- GGTCTTCTATTTGCTTTCACTAAGGAG -3'
(R):5'- CATCCAGTATTGGTTTGCATGATC -3'

Sequencing Primer
(F):5'- TGCTTTCACTAAGGAGTTAACCC -3'
(R):5'- CACCTCCTGAGTACTGGGATTAAAG -3'

Posted On

2014-06-30