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Allele : Kbtbd2<m2Btlr> kelch repeat and BTB (POZ) domain containing 2; mutation 2, Bruce Beutler

Primary Identifier  MGI:5806298 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Kbtbd2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU treatment induced a T-to-C transition at base pair 56,779,090 (GRCm38) on chromosome 6, equivalent to base pair 19,186 in the GenBank genomic region NC_000072. The mutation corresponds to residue 2,303 in the NM_145958 mRNA sequence in exon 4 of 4 total exons. The mutation results in a tyrosine (Y) to histidine (H) substitution at position 554 (p.Y554H) in the protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • infinitesimal,
  • infinitesimal
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele