|  Help  |  About  |  Contact Us

Allele : Klhl6<M7Btlr> kelch-like 6; mutation 7, Bruce Beutler

Primary Identifier  MGI:6284794 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Klhl6
Inheritance Mode  Dominant Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
description  https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3773
molecularNote  ENU-induced A to T transversion at base pair 19,949,447 (v38) on chromosome 16, or base pair 33,603 in the GenBank genomic region NC_000082 within the splice donor site of intron 5 (3-base pairs from exon 5). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 5. The mutation would result in an 85-base pair insertion of intron 5, causing a frame-shifted protein product beginning after amino acid 381 of the protein (which is normally 619 amino acids in length), and termination after the inclusion of six aberrant amino acids.
  • mutations:
  • Single point mutation
  • synonyms:
  • Besmirched,
  • Besmirched
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories