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Table 2 Candidate causal mutations ascertained in four mouse mutant lines

From: Variant mapping and mutation discovery in inbred mice using next-generation sequencing

Line Average NAF threshold (20 Mb window) gene NAF Chr bp Ref allele Var allele AA change polyphen score
J318 >90 % Clcn1 1 6 42291705 A T Stop N/A
K416 >90 % Tpp2 1 1 43971700 T C V549 > A 0.9
Stat4 1 1 52013916 A T R85 > S 0.5
Dnah7a 1 1 53496894 A T D2663 > E 0.22
Abca12 1 1 71259356 A G Splicing N/A
J328 >70 % Ssh3 0.68 19 42265350 T C M316 > T 0.99
Macod1 0.73 19 7066171 C T T160 > I 1.0
Pcsk5 0.85 19 17586097 T A I559 > F 0.98
Mbl2 0.78 19 30234044 A G T22 > A 0.72
Rbp4 0.75 19 38118394 T A D193 > V 1.0
J327 >70 % Zbbx 0.8 3 75085082 A G I254 > T 0.03
Adar 0.6 3 89735676 T C I288 > T 0.55
Pex11b 0.73 3 96643922 T A I241 > K 0.01