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Note whether the following mutations are likely (based on their nature and locat

ID: 258676 • Letter: N

Question

Note whether the following mutations are likely (based on their nature and location) to result in either a significant to complete loss of protein function (SC); or a partial to negligible loss of protein function (PN). Fill in each blank with either “SC” or “PN”.

A) Deletion of 2 base pairs just downstream of the start codon.

B) Nonsense mutation in the second of fifteen exons.

C) Transposon insertion in the 3’ UTR.

D) Missense mutation in a region of the gene that is required for proper folding/function of the protein.

E) Silent mutation in a region of a gene that contains a conserved domain.

F) Deletion of 3 base pairs just upstream of the stop codon.

G) Transversion in the first intron.

H) Frameshift mutation in the middle of a gene.

I) Temperature-sensitive mutation.

J) Deletion of the promoter

Explanation / Answer

A) SC: Deletion of 2 base pairs just downstream of the start codon.

B) SC: Nonsense mutation in the second of fifteen exons.

C) PN: Transposon insertion in the 3’ UTR.

D) SC: Missense mutation in a region of the gene that is required for proper folding/function of the protein.

E) PN: Silent mutation in a region of a gene that contains a conserved domain.

F) PN: Deletion of 3 base pairs just upstream of the stop codon.

G) PN: Transversion in the first intron.

H) SC: A frameshift mutation in the middle of a gene.

I) PN: Temperature-sensitive mutation.

J) SC: Deletion of the promoter

The transposon insertion in the 3’ UTR rarely affects a protein function as it is not part of the coding sequence. However, it may effect the translation process.

Silent mutations do not cause any effect on protein function.

Deletion of 3 base pairs just upstream of the stop codon may not cause any defect on protein function.

Transversion in the first intron may not cause any defect on protein function.