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.