Mutation discovery in mice by whole exome sequencing

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 SNVs^a	Overlap with map position	Allele ratio^b	Non-synonymous coding variants, splice sites	Unique^c	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.

ISSN: 1474-760X