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 |