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