Mutagenetix > Incidental Mutation

Incidental Mutation 'R8734:Vcl'

662938

Institutional Source

Beutler Lab

Gene Symbol

Vcl

Ensembl Gene

ENSMUSG00000021823

Gene Name

vinculin

Synonyms

metavinculin

MMRRC Submission

068582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20979466-21083744 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 21060236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022369 (fasta)

Gene Model

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

AlphaFold

Q64727

Predicted Effect

probably null
Transcript: ENSMUST00000022369

SMART Domains

Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823

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

Predicted Effect

probably null
Transcript: ENSMUST00000022369

SMART Domains

Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823

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

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,770,855 (GRCm39)	C5S	probably damaging	Het
Actl6a	G	A	3: 32,774,104 (GRCm39)	D275N	probably benign	Het
Ahctf1	C	A	1: 179,608,430 (GRCm39)	E681*	probably null	Het
Ankub1	G	A	3: 57,599,706 (GRCm39)	S21L	probably benign	Het
Apmap	T	A	2: 150,430,824 (GRCm39)	K178N	probably benign	Het
Arhgap15	T	A	2: 44,133,130 (GRCm39)	N345K	probably damaging	Het
Armc8	A	G	9: 99,402,538 (GRCm39)	V379A	probably benign	Het
Atmin	G	A	8: 117,681,525 (GRCm39)	D175N	possibly damaging	Het
Atp5pd	T	C	11: 115,307,689 (GRCm39)	E94G	possibly damaging	Het
B3gnt3	G	A	8: 72,146,145 (GRCm39)	T128M	probably damaging	Het
Ccdc88c	T	A	12: 100,906,394 (GRCm39)	T1040S	probably damaging	Het
Crot	C	T	5: 9,028,208 (GRCm39)	R247Q	probably benign	Het
Cyp2b9	A	G	7: 25,898,035 (GRCm39)		probably benign	Het
Dcaf8	T	C	1: 172,021,427 (GRCm39)	W540R	probably benign	Het
Galnt11	T	C	5: 25,455,222 (GRCm39)	I186T	possibly damaging	Het
Gne	T	A	4: 44,072,911 (GRCm39)		probably benign	Het
Gpr37	A	T	6: 25,688,201 (GRCm39)	F299I	probably benign	Het
Gpr37l1	C	T	1: 135,095,167 (GRCm39)	A26T	probably benign	Het
Grm4	A	G	17: 27,657,765 (GRCm39)	Y414H	probably damaging	Het
Kcnh1	T	C	1: 192,188,320 (GRCm39)	I954T	possibly damaging	Het
Lias	T	C	5: 65,561,552 (GRCm39)	Y308H	probably damaging	Het
Lrrc27	T	A	7: 138,796,515 (GRCm39)		probably benign	Het
Lrrc8a	C	T	2: 30,146,619 (GRCm39)	H478Y	probably benign	Het
Mdh2	T	A	5: 135,812,983 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,848,340 (GRCm39)	I688K	probably benign	Het
Nrp1	A	G	8: 129,207,420 (GRCm39)	D605G	probably benign	Het
Nt5dc3	A	G	10: 86,669,863 (GRCm39)	Y486C	possibly damaging	Het
Or5m13	T	A	2: 85,748,993 (GRCm39)	C241*	probably null	Het
Or8s16	A	T	15: 98,210,954 (GRCm39)	L159H	probably damaging	Het
Or9s23	T	A	1: 92,501,121 (GRCm39)	V76D	possibly damaging	Het
Pam	A	T	1: 97,762,127 (GRCm39)		probably benign	Het
Pcolce	A	G	5: 137,609,550 (GRCm39)	L14P	probably damaging	Het
Pcsk6	T	C	7: 65,581,481 (GRCm39)	I254T	probably benign	Het
Pdzrn3	A	T	6: 101,128,567 (GRCm39)	C700S	probably damaging	Het
Pglyrp2	A	G	17: 32,634,976 (GRCm39)	F462S	probably damaging	Het
Plaat3	T	A	19: 7,552,347 (GRCm39)	Y21N	possibly damaging	Het
Plekhm1	A	T	11: 103,285,778 (GRCm39)	L219Q	probably damaging	Het
Prkch	T	A	12: 73,632,018 (GRCm39)	S28T	possibly damaging	Het
Prrc2c	A	T	1: 162,507,081 (GRCm39)	S2529R	possibly damaging	Het
Prss3	G	T	6: 41,350,827 (GRCm39)	A221D	probably damaging	Het
Rbm33	T	A	5: 28,557,874 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,968,493 (GRCm39)	L83S	probably damaging	Het
Robo2	C	T	16: 73,764,651 (GRCm39)		probably benign	Het
Slc25a47	T	A	12: 108,820,247 (GRCm39)	F84I	probably benign	Het
Sntb2	A	G	8: 107,728,320 (GRCm39)	I423V	probably benign	Het
Spart	A	T	3: 55,032,300 (GRCm39)	D378V	possibly damaging	Het
Spint2	A	T	7: 28,958,835 (GRCm39)	F127Y	probably damaging	Het
Stag3	A	G	5: 138,310,050 (GRCm39)	T1233A	probably benign	Het
Tenm3	A	G	8: 48,802,391 (GRCm39)	I390T	probably benign	Het
Tigd2	A	G	6: 59,187,184 (GRCm39)	D17G	probably damaging	Het
Tln2	C	A	9: 67,179,936 (GRCm39)	A812S	probably benign	Het
Tmem234	A	G	4: 129,501,317 (GRCm39)	T133A	probably benign	Het
Trnp1	A	G	4: 133,225,380 (GRCm39)	F130S	possibly damaging	Het
Tsr1	A	G	11: 74,794,652 (GRCm39)	S436G	probably benign	Het
Ttn	T	C	2: 76,541,032 (GRCm39)	I33985V	probably benign	Het
Usp34	A	C	11: 23,394,184 (GRCm39)	D2278A		Het
Vav3	T	A	3: 109,565,285 (GRCm39)	F727Y	probably benign	Het
Vps13c	T	A	9: 67,880,685 (GRCm39)	D3507E	probably damaging	Het
Vtn	A	G	11: 78,391,090 (GRCm39)		probably benign	Het
Zfp319	A	G	8: 96,054,938 (GRCm39)	S422P	possibly damaging	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
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
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'- TGGCTTCAGGGCATTGCTATAC -3'
(R):5'- AACCACAGAGGAGCCAATTG -3'

Sequencing Primer
(F):5'- CAGGGCATTGCTATACATTTTCAC -3'
(R):5'- GACGCCAAAAACATTTACTTCTGTCG -3'

Posted On

2021-03-08