Skip to main content

Table 3 Missense SNVs detected among all of the SAMP strains, but absent in the SAMR and AKR/J strains

From: Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes

Location Gene symbol Gene name Nucleotide change Amino acid change SIFT score PolyPhen-2 score SNV carriers in 17 inbred strains of laboratory mice
Chr6:113283636 Ogg1 8-oxoguanine DNA-glycosylase 1 c.1125C>T p.R304W 0 0.999 NOD/ShLtJ
Chr6:115509985 Tsen2 tRNA splicing endonuclease 2 homolog (S. cerevisiae) c.728C>T p.P228L 0.32 0* 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, DBA/2J, LP/J, NOD/ShiLtJ, NZO/HlLtJ, WSB/EiJ
Chr6:115799662 Mbd4 methyl-CpG binding domain protein 4 c.896C>T p.D129N 0.12 0.996 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, DBA/2J, LP/J, NOD/ShiLtJ, NZO/HlLtJ
Chr6:116186163 D6Wsu116e (Fam21) DNA segment, Chr 6, Wayne State University 116, expressed(WASH complex subunit FAM21) c.1737C>T p.P556S 0.73 0.059* 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, DBA/2J, LP/J, NOD/ShiLtJ, NZO/HlLtJ
Chr6:116360826 Alox5 arachidonate 5-lipoxygenase c.2040C>T p.V646I 0.07 0 129P2/OlaHsd, 129S1/SvImJ, 129S5SvEvBrd, DBA/2J, LP/J, NOD/ShiLtJ, NZO/HlLtJ
Chr10:24020000 Moxd1 monooxygenase, DBH-like 1 c.1634G>A p.R516K 1 0* NOD/ShiLtJ, WSB/EiJ
Chr10:24021342 Moxd1 monooxygenase, DBH-like 1 c.1836A>C p.K583N 0.39 0.006 NOD/ShiLtJ, WSB/EiJ
  1. *Human protein sequence is in conflict with the mouse sequence at the position indicated.