|Institutional Source||Beutler Lab|
|Gene Name||fascin actin-bundling protein 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.474)|
|Stock #||R8121 (G1)|
|Chromosomal Location||142960343-142973185 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 142960861 bp|
|Amino Acid Change||Methionine to Threonine at position 138 (M138T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031565 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031565] [ENSMUST00000198017]|
|Predicted Effect||probably damaging
AA Change: M138T
PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: M138T
AA Change: M6T
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired migration of mature dendritic cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fscn1||
(F):5'- TGAACGCATCCGCTAGTAGC -3'
(R):5'- AGAGCTCATCTTTGCCCACC -3'
(F):5'- CGCATCCGCTAGTAGCTTGAAAAAG -3'
(R):5'- TCGCGAAAGGCCACCTTG -3'