| Primary Identifier | MGI:5775041 | Allele Type | Chemically induced (ENU) |
| Gene | Egfr | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false | Project Collection | Beutler Mutagenetix |
| molecularNote | ENU-induced T to C transition at base pair 16,871,881 (v38) on chromosome 11, or base pair 119,679 in the GenBank genomic region NC_000077. The mutation is located within the donor splice site of intron 10, six nucleotides from the previous exon. Two Egfr protein-coding transcripts are displayed on Ensembl; the transcripts encode proteins with distinct C-termini. The mutation in the set mice occurs within intron 10 of both transcripts. The effect of the mutation at the cDNA and protein level is unknown. One possibility, shown below, is that the mutation may disrupt the splice donor site, but it is judged unlikely to do so by splicing prediction programs. In the instance that the mutation affects splicing, the most likely aberrant splicing result is that a cryptic site in intron 10 could be used, resulting in a 12 nucleotide insertion in intron 10. As a result, an in-frame insertion of four aberrant amino acids after amino acid 403 of the protein may occur. |
