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Allele : Nckap1l<m1Btlr> NCK associated protein 1 like; mutation 1, Bruce Beutler

Primary Identifier  MGI:6283866 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Nckap1l
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=3502
molecularNote  C to A transversion at base pair 103,471,232 (v38) on chromosome 15, or base pair 17,450 in the GenBank genomic region NC_000081 encoding Nckap1l. The mutation corresponds to residue 1,000 in the mRNA sequence NM_153505.4 (c.1000C>A) within exon 10 of 31 total exons. The mutation results in substitution of tyrosine 315 for a premature stop codon (p.Y315*) in the HEM1 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • hem-haw,
  • hem-haw
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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