Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01573:Mbd3'

91161

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mbd3

Ensembl Gene

ENSMUSG00000035478

Gene Name

methyl-CpG binding domain protein 3

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01573

Quality Score

Status

Chromosome

Chromosomal Location

80228373-80235365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80229095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 233 (Q233K)

Ref Sequence

ENSEMBL: ENSMUSP00000089948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092295] [ENSMUST00000105347] [ENSMUST00000105348] [ENSMUST00000105349]

AlphaFold

Q9Z2D8

Predicted Effect

probably benign
Transcript: ENSMUST00000092295
AA Change: Q233K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000089948
Gene: ENSMUSG00000035478
AA Change: Q233K

Domain	Start	End	E-Value	Type
MBD	3	76	8.9e-35	SMART
Pfam:MBDa	79	148	8.2e-32	PFAM
Pfam:MBD_C	152	243	4.7e-37	PFAM
low complexity region	268	283	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105347
AA Change: Q209K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000100984
Gene: ENSMUSG00000035478
AA Change: Q209K

Domain	Start	End	E-Value	Type
Pfam:MBD	12	48	4.4e-8	PFAM
Pfam:MBD_C	126	219	9.8e-39	PFAM
low complexity region	244	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105348
AA Change: Q229K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100985
Gene: ENSMUSG00000035478
AA Change: Q229K

Domain	Start	End	E-Value	Type
MBD	1	44	4.8e-6	SMART
Pfam:MBD_C	146	239	1.7e-35	PFAM
low complexity region	264	279	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105349
AA Change: Q201K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000100986
Gene: ENSMUSG00000035478
AA Change: Q201K

Domain	Start	End	E-Value	Type
Pfam:MBD	4	40	4.7e-8	PFAM
Pfam:MBD_C	118	211	1.1e-38	PFAM
low complexity region	236	251	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125618

Predicted Effect

unknown
Transcript: ENSMUST00000142997
AA Change: Q132K

SMART Domains

Protein: ENSMUSP00000120675
Gene: ENSMUSG00000035478
AA Change: Q132K

Domain	Start	End	E-Value	Type
Pfam:MBDa	1	48	2.4e-25	PFAM
Pfam:MBD_C	52	143	1.3e-37	PFAM
low complexity region	168	183	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the MBD family of nuclear proteins that contain a methyl-CpG binding domain (MBD). The encoded protein is a component of the nucleosome remodeling and histone deacetylation (NuRD) complex. Deletion of this gene causes embryonic lethality in mice. Embryonic stem cells lacking the encoded protein are severely compromised in their ability to differentiate and fail to commit to developmental lineages in the absence of leukemia inhibitory factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene experience deficiencies as embryos around implantation and die before birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B3gntl1	A	G	11: 121,561,789 (GRCm39)	S58P	probably damaging	Het
Cacna1e	T	C	1: 154,347,113 (GRCm39)	D1018G	probably benign	Het
Cenpq	T	C	17: 41,240,936 (GRCm39)	I108V	possibly damaging	Het
Il7	T	C	3: 7,638,903 (GRCm39)	I154M	possibly damaging	Het
Itga9	C	A	9: 118,706,298 (GRCm39)		probably benign	Het
Klhl1	A	G	14: 96,438,640 (GRCm39)		probably benign	Het
Lrrc72	T	A	12: 36,262,561 (GRCm39)		probably null	Het
Mettl5	G	A	2: 69,711,659 (GRCm39)	A69V	probably damaging	Het
Naip1	C	A	13: 100,563,890 (GRCm39)	C425F	probably benign	Het
Ncor2	T	C	5: 125,162,090 (GRCm39)	I395V	unknown	Het
Nelfb	A	G	2: 25,093,969 (GRCm39)	L393P	probably damaging	Het
Or4a70	A	T	2: 89,324,545 (GRCm39)	M37K	probably damaging	Het
Rgs5	T	C	1: 169,504,413 (GRCm39)	I21T	probably benign	Het
Slc22a2	G	A	17: 12,824,848 (GRCm39)	V237I	probably damaging	Het
Slc5a1	A	G	5: 33,318,209 (GRCm39)	M621V	probably benign	Het
Slco1a4	A	G	6: 141,758,577 (GRCm39)		probably benign	Het
Smg1	A	G	7: 117,767,185 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,274,700 (GRCm39)	M15T	possibly damaging	Het

Other mutations in Mbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Mbd3	APN	10	80,229,717 (GRCm39)	splice site	probably benign
IGL03080:Mbd3	APN	10	80,229,085 (GRCm39)	missense	probably damaging	1.00
R1489:Mbd3	UTSW	10	80,229,740 (GRCm39)	missense	probably damaging	1.00
R1500:Mbd3	UTSW	10	80,230,420 (GRCm39)	missense	possibly damaging	0.90
R4454:Mbd3	UTSW	10	80,229,817 (GRCm39)	missense	probably damaging	1.00
R4921:Mbd3	UTSW	10	80,231,410 (GRCm39)	missense	probably damaging	1.00
R7611:Mbd3	UTSW	10	80,231,352 (GRCm39)	missense	probably damaging	0.99
R7659:Mbd3	UTSW	10	80,231,019 (GRCm39)	missense	probably damaging	1.00
X0063:Mbd3	UTSW	10	80,231,287 (GRCm39)	missense	probably benign	0.01

Posted On

2013-12-09