|Institutional Source||Beutler Lab|
|Gene Name||cyclin O|
|Is this an essential gene?||Probably non essential (E-score: 0.145)|
|Stock #||R8142 (G1)|
|Chromosomal Location||112987802-112990777 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 112988955 bp|
|Amino Acid Change||Leucine to Arginine at position 151 (L151R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040083 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038404] [ENSMUST00000092089]|
|Predicted Effect||probably damaging
AA Change: L151R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L151R
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit pre-weaning lethality after E17, hydrocephaly, growth retardation, enlarged brain ventricles, thin cerebral cortex, nasal cavity congestion and impaired formation of deuterosomes and centrioles. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccno||
(F):5'- CACTGTGCACAATACCAGGC -3'
(R):5'- CTAAGCCATGCACGAGTTGG -3'
(F):5'- AAACGTTCCCAGGCGTTC -3'
(R):5'- CCATGCACGAGTTGGGGAAG -3'