ENU mutagenesis induced a T to A transversion at base pair 164,066,201 (v38) on chromosome 1, or base pair 4,389 in the GenBank genomic region NC_000067. The mutation affects a thymine base 9 nucleotides from exon 4 (out of 9 total exons). The affect of the mutation on expression and localization has not been examined. The mutation is predicted to affect the splice acceptor site of intron 3, resulting in skipping of the 108-base pair exon 4 (encoding amino acids 158-193). Splicing of exon 3 to exon 5 does not generate a frame-shift. (J:217794)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count