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 | SMCHD1 | FSHD2 [14] | |
MommeD2 | Suppressor | Dnmt1 | C->A exon 25; T812K | Null | [6] | DNMT1 | |
MommeD4 | Enhancer | Smarca5 | T->A exon 12; W520R | Hypomorphic? | SMARCA5 | Acute myeloid leukemia [20] | |
MommeD5 | Enhancer | Hdac1 | 7 bp deletion in exon 13; Frameshift | Null | HDAC1 | Schizophrenia, neural development [2] | |
MommeD8 | Enhancer | Rlf | G->T exon 8; C1558F | Hypomorphic | This study | RLF | Â |
MommeD9 | Enhancer | Trim28 | T->C splice donor site of intron 13 | Null | [8] | TRIM28 | Â |
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 | Â |
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 | |
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 | Â |
MommeD30 | Enhancer | Wiz | 1 bp deletion in exon 5; Frameshift at amino acid 553 | Null | This study | WIZ | Â |
MommeD31 | Enhancer | Trim 28 | T->A exon 3; C178S | Null? | This study | TRIM28 | Â |
MommeD32 | Suppressor | Dnmt1 | T->C exon 29; L1045P | Null? | This study | DNMT1 | |
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 | Â |
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 | Â |
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 | Â |
MommeD42 | Enhancer | Brd1 | T->A exon 11; C411 Stop | Null | This study | BRD1 | Schizophrenia, bipolar affective disorder [29] |