Table 1

MommeD mutants, causative mutations and disease association
Name Effect on variegation Gene Nature of mutation Homozygous phenotype References Human homolog Disease association
MommeD1 Suppressor Smchd1 C->T exon 23; introduces Stop Null [5,11] SMCHD1 FSHD2 [14]
MommeD2 Suppressor Dnmt1 C->A exon 25; T812K Null [6] DNMT1 Schizophrenia, breast and prostate cancer [15-19]
MommeD4 Enhancer Smarca5 T->A exon 12; W520R Hypomorphic? [5,6] SMARCA5 Acute myeloid leukemia [20]
MommeD5 Enhancer Hdac1 7 bp deletion in exon 13; Frameshift Null [5,7] HDAC1 Schizophrenia, neural development [2]
MommeD8 Enhancer Rlf G->T exon 8; C1558F Hypomorphic This study RLF
MommeD9 Enhancer Trim28 T->C splice donor site of intron 13 Null [8] TRIM28
MommeD10 Enhancer Baz1b T->G exon 7; L733R Hypomorphic [7] BAZ1B Williams-Beuren syndrome [21]
MommeD12 Enhancer eIF3h T->A - 10 bp before splice acceptor site of intron 4 Null [9] eIF3H
MommeD13 Suppressor Setdb1 A->G exon 20; results in splicing defect Null This study SETDB1 Melanoma [22]
MommeD14 Suppressor Dnmt3b T->C splice acceptor site of intron 12 Hypomorphic [10] DNMT3B ICF syndrome [23]
MommeD16 Enhancer Baz1b T->C exon 2; L75P Hypomorphic? This study BAZ1B Williams-Beuren syndrome [21]
MommeD17 Suppressor Setdb1 T->C exon 21; V1248A Hypomorphic This study SETDB1 Melanoma [22]
MommeD18 Suppressor Rif1 C->T exon 29; Q1669 Stop Null This study RIF1 Breast cancer [24]
MommeD19 Suppressor Smarcc1 T->G splice acceptor site of intron 10 Null This study SMARCC1 Colorectal cancer [25,26]
MommeD23 Suppressor Smchd1 A->T exon 12; R498 Stop Null? This study SMCHD1 FSHD2 [14]
MommeD27 Suppressor Pbrm1 A->G exon 17; Y733C Hypomorphic? This study PBRM1 Renal cancer [27]
MommeD28 Enhancer Rlf A->G splice acceptor site of intron 4 Null This study RLF
MommeD30 Enhancer Wiz 1 bp deletion in exon 5; Frameshift at amino acid 553 Null This study WIZ
MommeD31 Enhancer Trim 28 T->A exon 3; C178S Null? This study TRIM28
MommeD32 Suppressor Dnmt1 T->C exon 29; L1045P Null? This study DNMT1 Schizophrenia, breast and prostate cancer [15-19]
MommeD33 Suppressor Suv39h1 A->G splice donor site of intron 1 Null This study SUV39H1 Lupus, retinoblastoma [2]
MommeD34 Enhancer Rlf C->A exon 7; C355 Stop Null This study RLF
MommeD35 Enhancer Smarca5 A-> G exon 9; N341S Hypomorphic? This study SMARCA5 Acute myeloid leukemia [20]
MommeD36 Suppressor Smchd1 C->T exon 42; Q1732 Stop Null? This study SMCHD1 FSHD2 [14]
MommeD37 Enhancer Smarca5 T->C exon 13; L565P Null? This study SMARCA5 Acute myeloid leukemia [20]
MommeD38 Enhancer eIF3h G->A exon 7; R291 Stop Null [9] eIF3H
MommeD39 Suppressor Smarca4 G->A splice donor site of intron 20 Null This study SMARCA4 Coffin-Siris syndrome [28]
MommeD40 Suppressor Uhrf1 T->A exon17; Y778 Stop Null This study UHRF1
MommeD42 Enhancer Brd1 T->A exon 11; C411 Stop Null This study BRD1 Schizophrenia, bipolar affective disorder [29]

In some cases the mutation can be defined as hypomorphic or null and in other cases this designation is less certain and we have added a question mark.

Daxinger et al.

Daxinger et al. Genome Biology 2013 14:R96   doi:10.1186/gb-2013-14-9-r96

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