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Allele : Lck<m2Btlr> lymphocyte protein tyrosine kinase; mutation 2, Bruce Beutler

Primary Identifier  MGI:5528710 Allele Type  Chemically induced (ENU)
Gene  Lck Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  ENU mutagenesis induced an A-to-G transition at base pair 129,555,640 (GRCm38) on chromosome 4, equivalent to base pair 18,002 in the GenBank genomic region NC_000070 encoding Lck. The mutation corresponds to residue 953 in the NM_001162432 mRNA sequence in exon 9 of 13 total exons, or at position 995 bp of the NM_001162433 mRNA sequence in exon 9 of 13 total exons, or at position 1,050 of the NM_010693 mRNA sequence in exon 8 of 12 total exons. The mutation results in a glutamic acid to glycine substitution at position 299 (p.E299G) in the Lck protein isoform encoded by NM_001162432 and a glutamic acid to glycine substitution at position 288 (p.E288G) in the Lck protein isoforms encoded by NM_001162433 and NM_010693. The effect of the mutation on kinase activity, expression level, or localization has not been tested.
  • mutations:
  • Single point mutation
  • synonyms:
  • swan,
  • swan
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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

4 Publication categories

Trail: Allele