Table 5

Validation of putative causative coding mutations in 15 mutant exomes

Mutant number (allele)

Inheritance/phenotype

Strain background

Variants called

In gene (introns, exons)

Novel SNVsa

Overlap with map position

Allele ratiob

Non-synonymous coding variants, splice sites

Uniquec

Validation of coding/splice variants

Variants in UTRs


5413 (Plps)

Dominant/craniofacial

Spontaneous: C57BL/6J, 129S1/SvImJ

13,453

3,271

1,821

200

129

55

3

None

3: Kcnab3, Pigs, Accn1

12860 (nert)

Recessive/craniofacial

Spontaneous: C57BL/6J

121,109

105,964

30,275

1,441

639

94

3

None

4: 4931406P16Rik, Shisa7, Nipa1, Alpk3

13782 (aphl)

Recessive/skin, hair

Spontaneous: MRL/MpJ

182,564

156,802

57,317

554

366

33

1

None

4: Eif2ak3, Mrpl35, Usp39 (2)

6246 (sunk)

Recessive/size

Spontaneous: A/J

164,053

60,051

16,508

693

303

25

0

None

None

3485 (frg)

Recessive/craniofacial

Spontaneous: C57BL/6J, A/J

124,054

105,326

20,073

36

22

0

0

None

None

4507 (stn)

Recessive/craniofacial

Spontaneous: C57BL/6J

7,523

3,079

2,338

13

7

0

0

None

None


In 6 of the 15 mutant exomes sequenced, candidate mutations in protein coding sequence or splice sites were either not found or could not be validated in additional samples; for three of these, however, candidate mutations in regions annotated at UTRs were identified. aCompared to dbSNP. b> 0.95 for homozygous samples, > 0.2 for heterozygous samples. ccompared to unrelated exome data sets.

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

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