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Table 1 Summary of NGS-TILLING findings

From: Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis

Genes Fragment screened Exon screened Total target size Coding size Variants tested Variant confirmed Deleterious mutations
lef1 1 1 258 163 19 11 0
amer1 4 1 1007 828 3 3 1
atoh1b 2 1 510 442 2 1 0
col4a3 3 5 804 417 3 0 0
col4a4 5 6 1263 746 3 1 1
col4a6 4 4 978 623 1 1 1
cspp1b 3 3 713 450 5 3 3
eml1 4 4 974 578 2 2 1
Exosc3 3 3 728 514 2 0 0
flt1 4 4 1004 576 3 3 1
FUS 3 3 809 578 0 0 0
hif1ab 5 5 1305 749 4 1 1
irf6 2 2 521 417 9 1 0
kif7 7 7 1846 1280 3 2 2
lycat 2 2 492 352 1 0 0
map3k12 6 6 1492 1019 3 1 1
maza 3 3 723 546 0 0 0
mllt4 6 6 1468 1097 1 0 0
myo10l1 2 2 516 335 3 1 1
nbeab 5 5 1239 809 7 4 2
oit3 4 3 1018 652 3 1 1
orc1 3 3 786 556 3 3 3
pax7a 1 1 262 222 2 0 0
pkd2l1 2 2 538 420 1 1 1
ppp4ca 3 4 781 404 1 1 1
prickle1a 3 3 715 447 0 0 0
ptk7 4 4 1020 767 3 2 1
rbfox1l 2 2 536 417 1 0 0
ryk 3 3 738 415 1 1 2
slc25a21 4 4 951 319 5 2 2
sox19b 3 1 771 601 1 1 1
tnfsf10 3 3 770 491 1 1 1
Total 109 106 27536 18230 96 48 28
  1. 109 target fragments, from 106 exons in 32 genes screened by NGS-TILLING. The total amount of genomic DNA screened was 27.5 Kb in each of 9,024 fish, corresponding to almost 250 Mb of sequence. Of this 27.5 Kb, 18.2 Kb coding sequence. 28 deleterious mutations (nonsense and splice site mutations) were found in 20 genes out of 32 genes.