|Institutional Source||Beutler Lab|
|Gene Name||cyclin F|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5845 (G1)|
|Chromosomal Location||24223232-24251409 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 24240793 bp|
|Amino Acid Change||Aspartic acid to Tyrosine at position 229 (D229Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111048 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115390]|
|Predicted Effect||possibly damaging
AA Change: D229Y
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: D229Y
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0818|
|Coding Region Coverage||
|Validation Efficiency||97% (59/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E9.5 and E10.5 due to defects in yolk sac and chorioallantoic placenta maturation. Embryos show incomplete turning, underdeveloped posterior structures, neural tube closure and braindefects. MEFs have cell cycle defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccnf||
(F):5'- CACATGAAACTGTGCCTGAGG -3'
(R):5'- TTTCTGCCGTGATCAGTCAGC -3'
(F):5'- CATGAAACTGTGCCTGAGGTCTATC -3'
(R):5'- AGTCAGCACTGTGTACGACTG -3'