|Institutional Source||Beutler Lab|
|Gene Name||CDC16 cell division cycle 16|
|Is this an essential gene?||Probably essential (E-score: 0.968)|
|Stock #||R5122 (G1)|
|Chromosomal Location||13757676-13781938 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 13764570 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 118 (Y118F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000147399 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043962] [ENSMUST00000130173] [ENSMUST00000134645]|
|Predicted Effect||possibly damaging
AA Change: Y212F
PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: Y212F
|Predicted Effect||noncoding transcript
|Predicted Effect||probably damaging
AA Change: Y118F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdc16||
(F):5'- GTTCTGTCTTCTAAACGTGTATGTGAC -3'
(R):5'- TTAGACAGCACAGACCGAAGTG -3'
(F):5'- GTGACATCCTTGTTACTATGGAAGTC -3'
(R):5'- AGACCGAAGTGCACATTCTG -3'