|Institutional Source||Beutler Lab|
|Gene Name||F-box and leucine-rich repeat protein 12|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7017 (G1)|
|Chromosomal Location||20618118-20644767 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 20618320 bp|
|Amino Acid Change||Serine to Proline at position 84 (S84P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000118369 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000155301]|
AA Change: S84P
AA Change: S84P
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, growth retardation, small placenta, absent gastric milk in mice that die and abnormal placental. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxl12||
(F):5'- CACAAGTTATGCTTTCATAGTTGGG -3'
(R):5'- GGGTCACATCCAGGAATTGC -3'
(F):5'- ATGCTTTCATAGTTGGGCTTTGCAG -3'
(R):5'- GTCACATCCAGGAATTGCTAGCTATG -3'