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Allele : Kitl<Sl-18R> kit ligand; steel 18 Oak Ridge

Primary Identifier  MGI:2652945 Allele Type  Spontaneous
Gene  Kitl Strain of Origin  Ednrb<S-12ThW>
Is Recombinase  false Is Wild Type  false
description  Publication J:82263 incorrectly states the affected amino-acid as at position 47. Comparing with the coordinates of the N31Y32 deletion in KitlSl-5R also described there, this is not correct, since based on the nucleotide cDNA coordinates given in the paper, the two mutations are described as 15 codons apart, not 16. Also, SW:P20826 locates the arginine for this allele at position 71 (or 46 in mature protein) and the asparagine and tyrosine in KitlSl-5R residues at 56-57 (31-32 mature), so, 15 amino-acids apart.
molecularNote  Sequence analysis revealed a C-to-T transition at coding coordinate 211 resulting in a nonsense codon in place of arginine 46 in exon 4 (p.R46* in mature protein or p.R71* in pre-protein). A severely truncated protein product is expected to be expressed from this allele.
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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3 Publication categories