The mutation comprises an A to G transition at position 828 of the mRNA sequence (NM_194055 from NCBI Build 37.1), in the fourth of the gene's 16 exons. It results in replacement of methionine by valine at amino acid position 161 of the protein. (J:201716) Additional incidental mutations were detected in sequencing for the causative mutation, Esrp1m1Btlr, and may be present in stocks carrying this mutation.