|Institutional Source||Beutler Lab|
|Gene Name||flightless I actin binding protein|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R3876 (G1)|
|Chromosomal Location||60714123-60727263 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 60719872 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 533 (T533A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002889 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002889]|
AA Change: T533A
PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: T533A
|Meta Mutation Damage Score||0.5323|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: This gene encodes a protein with gelsolin-like repeats and an N-terminal leucine-rich repeat domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. This protein may act as an actin-remodelling protein as well as a transcriptional coactivator. Homozygous knockout mice show embryonic lethality. This protein may act to regulate wound repair. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Embryos homozygous for a knock-out allele are able to initiate uterine implantation but degenerate rapidly thereafter. Heterozygous mutant mice display enhanced wound healing with increased epithelial migration and improved wound contraction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Flii||
(F):5'- TGTACATGTGGCCCGAGTTC -3'
(R):5'- CCATGGCAAGTTCTACGAGG -3'
(F):5'- TGCACCTGCAGGAACTCCTC -3'
(R):5'- AAGTTCTACGAGGCTGACTGCTAC -3'