|Institutional Source||Beutler Lab|
|Gene Name||F-box and leucine-rich repeat protein 17|
|Synonyms||6330576B01Rik, Fbxo13, Fbx13, C130023C01Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.295)|
|Stock #||R1597 (G1)|
|Chromosomal Location||63057452-63500017 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 63487818 bp|
|Amino Acid Change||Lysine to Arginine at position 423 (K423R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024761 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024761] [ENSMUST00000112840]|
|Predicted Effect||probably damaging
AA Change: K423R
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: K423R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.29|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
|MGI Phenotype||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 FBXL17, 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]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxl17||
(F):5'- GATCTATCTGCTCATCACCACAGCC -3'
(R):5'- GGATGACCAATGACTCTGACACTCG -3'
(F):5'- CAACAACCTTTCTAAATGTTGCG -3'
(R):5'- cagcagaactttgaacaaagaac -3'