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Table 1 MommeD mutants, causative mutations and disease association

From: An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouse

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 [1519]
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 [1519]
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]
  1. 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.