Trp53bp1^m1Btlr

ENU mutagenesis induced a G-to-T transversion at base pair 121,251,868 (GRCm38) on chromosome 2, or base pair 23,096 in the GenBank genomic region NC_000068. The mutation corresponds to residue 1,078 in the mRNA sequence NM_013735 within exon 8 of 28 total exons, changing exon 8 splice donor site G-GT to T-GT. Sequence analysis determined that the cDNA amplified from blood contained a 106-bp deletion within the 167-bp exon 8 (ENSMUST00000110648), indicating that this mutation abolishes the function of the intron 8 donor splice site and activates a cryptic G-GT splice donor site upstream in exon 8, which results in a frameshift that creates a premature stop codon in exon 11 (aberrant amino acids after position 285, truncation after position 362). (J:213192)