Homework07akey - d Deletion of four base pairs in the...

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6. (12 pts) Predict the molecular consequences of the following mutations on an essential mouse ribosomal protein gene and the probable phenotype of the homozygous mouse for that particular mutation. Please give the reasoning for you answers. a. A +1 frameshift mutation in the untranslated leader sequence. A +1 frameshift in the untranslated leader sequence is most likely without functional consequence because it does not affect the open reading frame. A homozygous mutant is predicted to have no phenotype . b. A –1 frameshift mutation at the fourth nucleotide from the initiating AUG. A –1 frameshift in the fourth nucleotide will cause a frameshift early in the coding sequence and will most likely encode for a nonfunctional protein. A homozygous mutant is predicted to be inviable. c. A nonsense mutation in exon 2. A nonsense mutation results in a truncated gene product, which is most probably non- functional. A homozygous mutant is predicted to be inviable.
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Unformatted text preview: d. Deletion of four base pairs in the middle of intron 12. 1) A deletion in the middle of the intron should have no functional consequence (normal splicing, normal gene product, normal mouse). 2) It is possible that the deletion affects the branch point sequence. In this case splicing would be abolished, resulting in a non-functional gene product. A homozygous mutant is predicted to be inviable. (Either possibility for full points) e. Mutation of the dinucleotide sequence at the 5’ end of an intron from GT to AT. Mutation of splice site results in failure to remove intron and will produce nonfunctional gene product. A homozygous mutant is predicted to be inviable. f. Deletion of the TATA sequence in the promoter. Mutation of the essential promoter element will abolish transcription of that gene. The homozygous mutant is predicted to be inviable....
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