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Table 3 Analysis of annotated variant data from mutant exome sequencing

From: Mutation discovery in mice by whole 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
  1. aCompared to dbSNP. b> 0.95 for homozygous samples, > 0.2 for heterozygous samples. c compared to unrelated exome data sets. NA, not available.