This mutation was identified in a blood screen of G3 progeny of an ENU mutagenized male mouse. The mutation comprises a C to A transversion at nucleotide position 2783 of the gene. It converts the codon encoding tyrosine at amino acid position 886, in the C-terminal region of the core protein sequence, to a translation termination codon (Y886Ter). This is predicted to truncate the core by 123 and the full length protein by 155 amino acids. (J:150635)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count