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Figure 4 | BMC Research Notes

Figure 4

From: The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g

Figure 4

The predicted amino acid sequence encoded by wild type and mutant alleles of Fam83g . The wild type amino acid sequence is based on our DNA sequence analysis of the C57BL/6J, A/J, and NOD/ShiLtJ inbred strains of mice. The five coding sequence differences we found among these three strains and the NOD/ShiLtJ-wly strain are highlighted in green (for three silent, third-position changes) or in yellow (for two nonsynonymous substitutions). All of these polymorphisms are described in detail in Additional file 5. Vertical bars indicate boundaries between odd numbered exons (shown in black) and even-numbered exons (shown in blue). The codon specifying Serine 272 (shown in red) spans Exons 2 and 3. In mutant Fam83g mRNA, Exon 3 is skipped (see Figures 3b & Additional file 6c), predicting that Exon 4 sequences will be translated out-of-frame, yielding 24 novel amino acids (shown in green) before an out-of-frame stop codon (*) is encountered, yielding a severely truncated product of only 524 amino acids (vs. the normal 812 amino acids). Conserved domains that have been predicted for the wild type Fam83g protein are indicated by horizontal lines on the diagram: red is the domain of unknown function DUF1669, accession number PF07894 [20, 21]; black is the phospholipase D/nuclease superfamily domain, accession number SSF56024 [22, 23]; green is the N-terminal phospholipase D-like domain, accession number cd09187 [24, 25]; purple is the proline rich function unknown, accession number PS50099 [28, 29]; and are discussed in the text. Horizontal lines drawn in orange indicate regions that display low complexity [3].

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