|Institutional Source||Beutler Lab|
|Gene Name||F-box and leucine-rich repeat protein 17|
|Synonyms||6330576B01Rik, Fbxo13, Fbx13, C130023C01Rik|
|Is this an essential gene?||Probably essential (E-score: 0.753)|
|Stock #||R3909 (G1)|
|Chromosomal Location||63057452-63500017 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 63499807 bp|
|Amino Acid Change||Proline to Serine at position 71 (P71S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024761 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024761]|
|Predicted Effect||possibly damaging
AA Change: P71S
PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: P71S
|Meta Mutation Damage Score||0.0595|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
|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'- CGCTTGCAAACCATCTCGAG -3'
(R):5'- ATATGGGCCACCTTCTCTCGAAG -3'
(F):5'- AAACCATCTCGAGGGCCGTG -3'
(R):5'- TCTCGAAGGAGCCGCGTAAC -3'