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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 [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]

  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.