Unc13d^Jinx

A G to T transversion at position 4538 downstream from the distal end of exon 26 creats a new donor spice site which is used to the complete exclusion of the normal donor site. As a result, 53 additional intronic nucleotides are incorporated into the resulting mRNA. This results in 20 aberrant amino acids followed by premature termination due to an in-frame TGA codon after amino acid 859. This eliminates the second C2 domain and part of the second MHD. (J:88776, J:119974)