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Allele : Prkdc<m14Btlr> protein kinase, DNA activated, catalytic polypeptide; mutation 14, Bruce Beutler

Primary Identifier  MGI:6285200 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Prkdc
Inheritance Mode  Recessive 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=3812
molecularNote  ENU-induced A to T transversion at base pair 15,829,697 (v38) on chromosome 16, or base pair 192,255 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 11,007 in the mRNA sequence NM_011159 within exon 77 of 86 total exons. The mutation results in an isoleucine to phenylalanine substitution at position 3,662 (I3662F) in the DNA-PKCS protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • daffy,
  • daffy
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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