TABLE 2

Chromosome 12 candidate gene evidence summary

Gene IDaCn SNP?bAmino acidc (B6/AA/129)Amino acid propertyd (B6/129)Functional domain?eExpression difference?fHigh expression in liver?g
4921508M14RikNoNoNo
Prps1l1Yes: rs3384124Ala/231/ThrNonpolar/polarRibP_Ppkin and PRtransferaseNoNo
Snx13NoNoNo
microRNA: mmu-mir-680-3NohNo dataNo data
Spliceosomal RNA: U6NohNo dataNo data
AhrYes:Yes (>5× median)
rs3021620Ser/533/AsnPolar/polarNoNo
rs3021964Leu/471/ProNonpolar/nonpolarNo
rs3021544Ala/375/ValNonpolar/nonpolarPAC
Immp2lNoNoYes (>2× median)
  • a External gene identification symbol with Ensembl gene identifier number below.

  • b Nonsynonymous single nucleotide polymorphism.

  • c Amino acid for C57BL/6J and 129S1/SvImJ strains at the protein position number shown (AA no.).

  • d R-group property of amino acid in C57BL/6J and 129S1/SvImJ strains.

  • e RibP_Ppkin, ribose-phosphate pyrophosphokinase domain; PRtransferase, phosphoribosyltransferase; PAC, PAS-associated C-terminal domain.

  • f mRNA expression difference between 129S1/IvmJ and C57BL/6J strains.

  • g mRNA expression in liver >2× median.

  • h RNA genes were examined for any SNPs between relevant strains, and none was found.