|Institutional Source||Beutler Lab|
|Gene Name||villin 1|
|Is this an essential gene?||Probably non essential (E-score: 0.247)|
|Stock #||R7791 (G1)|
|Chromosomal Location||74409376-74435559 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74428136 bp|
|Amino Acid Change||Tyrosine to Histidine at position 681 (Y681H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027366 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027366]|
|Predicted Effect||probably damaging
AA Change: Y681H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y681H
|Meta Mutation Damage Score||0.9418|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
|MGI Phenotype||Strain: 1859841
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants do not exhibit gross abnormalities or apparent defects of microvilli morphogenesis, however in one line, an increased sensitivity to colitis induced by dextran sulfate was observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vil1||
(F):5'- AGGTCTTTCTAGCTGGGCATC -3'
(R):5'- AAGGCTAGTGGCATCTGGAC -3'
(F):5'- CTAGCTGGGCATCGGGGATG -3'
(R):5'- GGATTGTGCCATGAAGCTACC -3'