|Institutional Source||Beutler Lab|
|Gene Name||F-box protein 5|
|Synonyms||2510044I10Rik, Emi1, Fbxo31|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7161 (G1)|
|Chromosomal Location||5799160-5805600 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5802043 bp|
|Amino Acid Change||Valine to Alanine at position 190 (V190A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019907 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019907]|
|Predicted Effect||possibly damaging
AA Change: V190A
PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: V190A
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of 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. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation, impaired embryogenesis, and mitotic abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxo5||
(F):5'- TTACTAAGTCCATGCCGCTG -3'
(R):5'- GCTAGAGGCCAGTAGACTGTATG -3'
(F):5'- TGCCGCTGAGCTTAGTCAAAATG -3'
(R):5'- TATGAGGACAGTGGCTACTCATC -3'