|Institutional Source||Beutler Lab|
|Gene Name||cofilin 1, non-muscle|
|Synonyms||Cof, n-cofilin, cofilin|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R1657 (G1)|
|Chromosomal Location||5490455-5495201 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 5493555 bp (GRCm38)|
|Amino Acid Change||Arginine to Tryptophan at position 187 (R187W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112259 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070172] [ENSMUST00000116560] [ENSMUST00000209469]|
AA Change: R187W
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: R187W
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice display embryonic lethality with impaired neural crest cell migration, an open neural tube, and abnormal somite and eye development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cfl1||
(F):5'- TCCAAGGATGCCATCAAGAAGAAGC -3'
(R):5'- TGCGTCAACCCAAGAGGAATCAG -3'
(F):5'- CCTTCTGCAAAAGTCATGGG -3'
(R):5'- TCAGAAGATCAAAAGCAGTTTGGG -3'