Rc3h1^m1Btlr

ENU-induced A to G transition at base pair 160,959,399 (v38) on chromosome 1, or base pair 52,989 in the GenBank genomic region NC_000067. The mutation is located within the acceptor splice site of intron 13, two nucleotides from exon 14. The effect of the mutation at the mRNA and protein level is unknown. One possibility, is that a cryptic site in intron 13 may be used, resulting in a 28-base pair insertion of intron 13. The insertion would cause a frame-shift (affecting the protein after amino acid 788) and subsequent premature termination after the inclusion of 12 aberrant amino acids. (J:234246)