|Institutional Source||Beutler Lab|
|Gene Name||Von Willebrand factor|
|Is this an essential gene?||Probably non essential (E-score: 0.205)|
|Stock #||R6877 (G1)|
|Chromosomal Location||125546774-125686679 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 125657201 bp|
|Amino Acid Change||Valine to Aspartic acid at position 2153 (V2153D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000107873 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112254]|
|Predicted Effect||possibly damaging
AA Change: V2153D
PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: V2153D
|Meta Mutation Damage Score||0.3016|
|Coding Region Coverage||
|Validation Efficiency||94% (47/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vwf||
(F):5'- TTCACGTTGCGAGATGGCAC -3'
(R):5'- TAGGCAGATGAGACTCTGTAGACC -3'
(F):5'- AGATGGCACGGTCACCACAG -3'
(R):5'- TGAGCGGGCCAATACTTG -3'