Table 3 Analysis of annotated variant data from mutant exome sequencing
Mutant number (allele) | Inheritance/phenotype | Mutation type: strain background | Variants called | In gene (introns, exons) | Novel SNVsa | Overlap with map position | Allele ratiob | Non-synonymous coding variants, splice sites | Uniquec | Putative mutation |
|---|---|---|---|---|---|---|---|---|---|---|
12874 (bloodline) | Recessive/metabolic | Spontaneous: stock (mixed B6) | 134,205 | 116,120 | 35,469 | 350 | 155 | 29 | 1 | Map3k11, E293K |
12724 (Cleft) | Dominant/craniofacial | ENU: C57BL/6J, C3HeB/FeJ | 49,367 | 36,037 | 10,873 | 83 | 53 | 19 | 2 | Col2a1, Q713Stop |
repro7 | Recessive/reproductive | ENU: C57BL/6J, C3H/HeJ, Cast/EiJ | 410,333 | 185,999 | 87,568 | 799 | 47 | 7 | 1 | Prdm9, Q478Stop |
5330 (hpbk) | Recessive/skeletal | ENU: C57BL/6J | 8,516 | 6,167 | 4,589 | 35 | 3 | 2 | 2 | Notch3, splice donor site (G to A), intron 31 |
13716 (vgim) | Recessive/reproductive | Spontaneous: C57BL/6J | 10,134 | 7,346 | 5,533 | 117 | 6 | 3 | 2 | Lhfpl2, G102E |
8568 (lear) | Recessive/small ears | Spontaneous: C57BL/6J | 8,219 | 5,715 | 1,889 | 12 | 1 | 1 | 1 | Prkra, intron 5, splice donor |
12856 (shep) | Recessive/metabolic | Spontaneous: A/J | 164,116 | 59,067 | 16,930 | 454 | 177 | 83 | 1 | Relb, Q334K |
l11Jus74 | Recessive | ENU: B6, 129 | 230,896 | 52,628 | 14,448 | 344 | 37 | 4 | 2 | Rundc3a, Y46F; Nek8, V343E |
4235 (Sofa) | Dominant, craniofacial | Spontaneous: C57BL/6J, AKR/J | 134,207 | 116,122 | 35,471 | 346 | 310 | 121 | 1 | Pfas, H1194_G1198del |
C57BL/6J | NA | None | 5,980 | 3,953 | 3,132 | NA | 538 | 17 | 3 | NA |
13716 (vgim) | Recessive/reproductive | Spontaneous: C57BL/6J | 10,134 | 7,346 | 5,533 | NA | 940 | 97 | 38 | NA |