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 SNVs^a

Overlap with map position

Allele ratio^b

Non-synonymous coding variants, splice sites

Unique^c

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

^aCompared to dbSNP. ^b> 0.95 for homozygous samples, > 0.2 for heterozygous samples. ^c compared to unrelated exome data sets. NA, not available.

Fairfield et al. Genome Biology 2011 12:R86   doi:10.1186/gb-2011-12-9-r86