The mutation comprises a T to A transversion at nucleotide 2015 of the mRNA sequence (Genbank record XM_975612; base pair 148939344 on Chromosome 7, NCBI m37 mouse assembly (Build 37.1)). It results in replacement of isoleucine by asparagine at amino acid 672, in exon 44 of the gene's 47 coding exons (XM_975612).