Ern2^m1Btlr

The molecular lesion is a T to A transversion at base pair 122,171,661 (v38) on chromosome 7, or base pair 13,056 in the GenBank genomic region NC_000073. This corresponds to the second nucleotide within the donor splice site of intron 18. The effect of the mutation at the cDNA and protein levels has not been analyzed, but it is predicted to result in skipping of the 148-base pair exon 18 (of 22 total exons), which would cause a frame-shift, coding of 7 aberrant amino acids, and a premature stop codon that would truncate the protein after amino acid 694. (J:216045)