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Allele : Tap2<m2Btlr> transporter 2, ATP-binding cassette, sub-family B (MDR/TAP); mutation 2, Bruce Beutler

Primary Identifier  MGI:5613166 Allele Type  Chemically induced (ENU)
Attribute String  Null/knockout Gene  Tap2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU mutagenesis induced a T to A transversion at base pair 34,212,354 (v38) on chromosome 17, or base pair 8,270 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,418 in the mRNA sequence NM_011530 within exon 7 of 12 total exons. The mutation results in a valine (V) to aspartic acid (D) substitution at position 422 (V422D), and is strongly predicted by Polyphen-2 to cause loss of function (score = 0.989).
  • mutations:
  • Single point mutation
  • synonyms:
  • date,
  • date
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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