Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03080:Mbd3'

417831

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 #

IGL03080

Quality Score

Status

Chromosome

Chromosomal Location

80228373-80235365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80229085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 204 (R204Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100986 (fasta)

Gene Model

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

AlphaFold

Q9Z2D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000092295
AA Change: R236Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089948
Gene: ENSMUSG00000035478
AA Change: R236Q

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 damaging
Transcript: ENSMUST00000105347
AA Change: R212Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100984
Gene: ENSMUSG00000035478
AA Change: R212Q

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 damaging
Transcript: ENSMUST00000105348
AA Change: R232Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100985
Gene: ENSMUSG00000035478
AA Change: R232Q

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 damaging
Transcript: ENSMUST00000105349
AA Change: R204Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100986
Gene: ENSMUSG00000035478
AA Change: R204Q

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: R135Q

SMART Domains

Protein: ENSMUSP00000120675
Gene: ENSMUSG00000035478
AA Change: R135Q

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	T	C	8: 80,429,630 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,827 (GRCm39)	M734V	probably benign	Het
Aqp8	T	G	7: 123,065,802 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,632,500 (GRCm39)	D508G	probably damaging	Het
Cyp11b1	A	T	15: 74,711,285 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,937,980 (GRCm39)	D1619G	probably benign	Het
Eif1ad17	A	T	12: 87,978,615 (GRCm39)		probably benign	Het
Ephb4	T	A	5: 137,352,345 (GRCm39)		probably benign	Het
Ffar3	A	T	7: 30,554,747 (GRCm39)	V191E	probably damaging	Het
Galnt1	T	A	18: 24,402,574 (GRCm39)	D310E	probably damaging	Het
Igf2r	T	C	17: 12,945,563 (GRCm39)	Y342C	probably benign	Het
Jade1	T	A	3: 41,554,510 (GRCm39)	C251*	probably null	Het
Jhy	T	C	9: 40,855,653 (GRCm39)	E278G	probably damaging	Het
Kif24	A	C	4: 41,394,417 (GRCm39)	S819A	probably benign	Het
Lrp8	T	C	4: 107,712,996 (GRCm39)	L344P	probably damaging	Het
Lrrc27	A	G	7: 138,810,153 (GRCm39)	T375A	probably benign	Het
Nab2	T	C	10: 127,500,663 (GRCm39)	N143S	possibly damaging	Het
Nkiras2	T	C	11: 100,515,105 (GRCm39)		probably null	Het
Or7e174	A	T	9: 20,012,705 (GRCm39)	I217F	probably damaging	Het
Palm	C	A	10: 79,654,951 (GRCm39)	H74Q	probably damaging	Het
Pros1	T	A	16: 62,738,506 (GRCm39)	N408K	probably damaging	Het
Psg23	T	A	7: 18,340,910 (GRCm39)	Y448F	probably damaging	Het
Ranbp2	C	A	10: 58,312,613 (GRCm39)	P1111Q	probably benign	Het
Rims2	A	G	15: 39,399,299 (GRCm39)	S1115G	probably damaging	Het
Scn7a	T	C	2: 66,528,160 (GRCm39)	T777A	probably benign	Het
Spata31h1	T	C	10: 82,119,816 (GRCm39)	D428G	probably damaging	Het
Stard3nl	A	T	13: 19,554,648 (GRCm39)		probably null	Het
Sult1d1	T	C	5: 87,704,847 (GRCm39)	D214G	probably benign	Het
Tmprss12	T	C	15: 100,190,529 (GRCm39)	W300R	probably damaging	Het
Tmprss2	T	C	16: 97,398,044 (GRCm39)	Y44C	probably damaging	Het
Ttk	A	G	9: 83,725,136 (GRCm39)	N154D	probably damaging	Het
Tut4	T	A	4: 108,363,021 (GRCm39)	S444R	probably damaging	Het
Tyw1	T	C	5: 130,295,896 (GRCm39)	Y108H	probably damaging	Het
Vmn2r44	C	A	7: 8,386,244 (GRCm39)		probably benign	Het
Zfand1	A	G	3: 10,405,797 (GRCm39)	*269Q	probably null	Het
Zfp142	A	T	1: 74,610,368 (GRCm39)	D1039E	probably benign	Het
Zkscan5	G	T	5: 145,155,460 (GRCm39)	S377I	probably 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
IGL01573:Mbd3	APN	10	80,229,095 (GRCm39)	missense	probably benign	0.03
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

2016-08-02