Trp53bp1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Trp53bp1^m1Btlr
• Name: transformation related protein 53 binding protein 1; mutation 1, Bruce Beutler
• MGI ID: MGI:5583840
• Synonyms: lentil
• Gene: Trp53bp1 Location: Chr2:121023762-121101888 bp, - strand Genetic Position: Chr2, 60.37 cM
• Alliance: Trp53bp1^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: 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)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Trp53bp1 Mutation: 98 strains or lines available

References

• Original: J:213192 Wang K-W, et al., Mutagenetix entry for lentil. MGI Direct Data Submission. 2014
• All: 2 reference(s)