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|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6859 (G1)|
|Chromosomal Location||20929398-21033676 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 20987075 bp|
|Amino Acid Change||Valine to Alanine at position 247 (V247A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022369 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022369]|
|Predicted Effect||probably damaging
AA Change: V247A
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V247A
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
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||
|Other mutations in Vcl||
(F):5'- GGCCCACTCAAATGGTCAAAG -3'
(R):5'- AGGCTACACACTTCAGCTTTC -3'
(F):5'- TCAAATGGTCAAAGAGAAATAACCC -3'
(R):5'- ACACACTTCAGCTTTCTACCAG -3'