Bap1^em2Test
Endonuclease-mediated Allele Detail

Summary

• Symbol: Bap1^em2Test
• Name: Brca1 associated protein 1; endonuclease-mediated mutation 2, Joseph R Testa
• MGI ID: MGI:5817986
• Synonyms: Bap1^W
• Gene: Bap1 Location: Chr14:30973407-30981901 bp, + strand Genetic Position: Chr14, 19.09 cM
• Alliance: Bap1^em2Test page

Mutation origin

• Strain of Origin: FVB

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Zinc finger nuclease mediated targeted mutation generated an intron 6 splice site mutation changing exon 7 splice acceptor CAG to CGG (GRCm39:chr14:30976122A>G). This leads to the activation of a cryptic CAG splice site in the 5' end of exon 7 which results in skipping the first 5 bp from that exon, leading to a frameshift and premature stop codon. The mutation is the equivalent of the same human exon 7 splice acceptor mutation found in a family with malignant mesothelioma. (J:231692)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Bap1^em2Test

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Bap1 Mutation: 37 strains or lines available

References

• Original: J:231692 Kadariya Y, et al., Bap1 Is a Bona Fide Tumor Suppressor: Genetic Evidence from Mouse Models Carrying Heterozygous Germline Bap1 Mutations. Cancer Res. 2016 May 1;76(9):2836-44
• All: 1 reference(s)