Nucleotide numbering relative to ATG.
Nucleotide substitution: G880A.
Eliminates the predicted 5' intron splice site, predicted to result in a frameshift after the first exon and generating a truncated protein consisting of only the WD beta-propeller structure.
G13388993A
G880A
G to A mutation in the splice donor site.
Homozygous Poc1k245 adults display morphological defects in sperm centrioles (shorter giant centriole compared to controls) but their locomotor behavior appears unaffected (suggesting sensory cilia function is not perturbed).
Heterozygotes, homozygotes and hemizygotes (with Df(3L)Ly) have shorter centrioles in spermatocytes compared to controls. Homozygotes have impaired formation of the proximal centriole-like structure.