Mutagenetix > Incidental Mutation

Incidental Mutation 'R7056:Eed'

547923

Institutional Source

Beutler Lab

Gene Symbol

Eed

Ensembl Gene

ENSMUSG00000030619

Gene Name

embryonic ectoderm development

Synonyms

l7Rn5, l(7)5Rn

MMRRC Submission

045153-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R7056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89603862-89630184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89619564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 168 (S168T)

Ref Sequence

ENSEMBL: ENSMUSP00000102853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107234] [ENSMUST00000208977]

AlphaFold

Q921E6

PDB Structure

Structural basis of EZH2 recognition by EED [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107234
AA Change: S168T

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: S168T

Domain	Start	End	E-Value	Type
WD40	81	125	1.43e1	SMART
WD40	131	176	2.04e2	SMART
WD40	179	219	1.3e-7	SMART
WD40	222	264	1.61e-3	SMART
WD40	295	332	7.1e1	SMART
Blast:WD40	349	390	1e-17	BLAST
WD40	397	438	4.3e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208977
AA Change: S117T

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

Meta Mutation Damage Score

0.0947

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are dwarfed and their coat color is dilute. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	A	9: 95,744,916 (GRCm39)	S78T	probably damaging	Het
B2m	T	C	2: 121,981,465 (GRCm39)	L60P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cep350	A	C	1: 155,724,373 (GRCm39)	I3075S	probably damaging	Het
Cep97	A	G	16: 55,725,935 (GRCm39)	S651P	probably damaging	Het
Chrna5	C	T	9: 54,888,985 (GRCm39)		probably benign	Het
Cog5	T	C	12: 31,715,468 (GRCm39)	V80A	possibly damaging	Het
Col9a2	G	A	4: 120,906,913 (GRCm39)		probably null	Het
Cop1	C	T	1: 159,077,647 (GRCm39)	L161F	probably damaging	Het
Cyp4f17	A	T	17: 32,746,846 (GRCm39)	M383L	possibly damaging	Het
Dennd4a	A	G	9: 64,814,205 (GRCm39)	D1474G	possibly damaging	Het
Dgkb	A	C	12: 38,150,492 (GRCm39)	S100R	probably benign	Het
Dnah17	A	G	11: 118,016,212 (GRCm39)	V309A	probably benign	Het
Dner	C	A	1: 84,558,457 (GRCm39)	R169L	possibly damaging	Het
Dus1l	T	C	11: 120,682,120 (GRCm39)	E362G	probably benign	Het
Eif3a	T	A	19: 60,751,500 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,450 (GRCm39)	S472G	probably benign	Het
Fbn2	T	A	18: 58,209,798 (GRCm39)	T1028S	probably benign	Het
Fbxw16	A	G	9: 109,265,352 (GRCm39)	V393A	possibly damaging	Het
Fig4	A	T	10: 41,096,928 (GRCm39)	L838Q	probably benign	Het
Gm13941	T	G	2: 110,927,147 (GRCm39)	S137R	unknown	Het
Gm9938	T	G	19: 23,701,981 (GRCm39)		probably benign	Het
Igsf10	T	G	3: 59,238,501 (GRCm39)	D560A	probably damaging	Het
Lrrk2	T	A	15: 91,659,198 (GRCm39)	L1870*	probably null	Het
Mep1b	T	A	18: 21,224,247 (GRCm39)	Y347N	probably damaging	Het
Mepce	T	C	5: 137,780,968 (GRCm39)	N613D	probably damaging	Het
Mgat3	T	G	15: 80,096,097 (GRCm39)	L308R	probably damaging	Het
Morc2a	A	G	11: 3,625,925 (GRCm39)	Y175C	probably damaging	Het
Necab2	A	G	8: 120,178,878 (GRCm39)	N98S	probably benign	Het
Net1	T	C	13: 3,934,845 (GRCm39)	M394V	probably benign	Het
Nfat5	G	A	8: 108,094,738 (GRCm39)	G993D	probably damaging	Het
Obscn	C	A	11: 58,887,122 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,465,904 (GRCm39)	H34R	probably damaging	Het
Or2ab1	A	G	11: 58,489,044 (GRCm39)	Y274C	probably damaging	Het
Or4f60	T	C	2: 111,902,662 (GRCm39)	N89D	probably benign	Het
Pmm2	T	A	16: 8,460,628 (GRCm39)	F27L	probably damaging	Het
Ptpdc1	C	A	13: 48,740,466 (GRCm39)	V261F	possibly damaging	Het
Pyroxd1	G	T	6: 142,304,808 (GRCm39)	R345L	probably benign	Het
Radil	A	T	5: 142,480,109 (GRCm39)	C670*	probably null	Het
Rasgrf2	C	T	13: 92,167,203 (GRCm39)	S290N	probably damaging	Het
Rbm33	T	C	5: 28,599,001 (GRCm39)		probably benign	Het
Rnf111	A	T	9: 70,360,957 (GRCm39)	S501R	possibly damaging	Het
Sel1l2	T	A	2: 140,087,334 (GRCm39)	I446F	probably benign	Het
Sh3pxd2b	T	C	11: 32,372,737 (GRCm39)	S635P	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Smg1	T	C	7: 117,745,623 (GRCm39)		probably benign	Het
Sorcs2	C	A	5: 36,225,474 (GRCm39)	D132Y	probably damaging	Het
Sox18	T	C	2: 181,313,280 (GRCm39)	D12G	probably damaging	Het
Srsf4	G	T	4: 131,628,004 (GRCm39)		probably benign	Het
Susd4	C	A	1: 182,660,721 (GRCm39)	T81N	probably benign	Het
Tmem256	G	T	11: 69,729,416 (GRCm39)		probably benign	Het
Tor4a	T	C	2: 25,084,853 (GRCm39)	H350R	probably benign	Het
Ugt2a3	T	A	5: 87,484,953 (GRCm39)	S24C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r77	C	T	7: 86,451,023 (GRCm39)	T303I	probably benign	Het
Wdr70	T	A	15: 7,913,877 (GRCm39)	I591F	possibly damaging	Het
Wdr93	T	C	7: 79,399,088 (GRCm39)	I74T	probably damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp592	T	A	7: 80,673,067 (GRCm39)	D10E	probably damaging	Het
Zfp69	A	G	4: 120,788,295 (GRCm39)	V340A	probably benign	Het
Zswim2	C	T	2: 83,751,092 (GRCm39)		probably null	Het

Other mutations in Eed

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Eed	APN	7	89,618,803 (GRCm39)	missense	possibly damaging	0.71
IGL02232:Eed	APN	7	89,621,493 (GRCm39)	missense	probably damaging	1.00
IGL02740:Eed	APN	7	89,621,464 (GRCm39)	missense	possibly damaging	0.91
R0417:Eed	UTSW	7	89,620,760 (GRCm39)	nonsense	probably null
R1018:Eed	UTSW	7	89,617,019 (GRCm39)	splice site	probably benign
R1581:Eed	UTSW	7	89,629,676 (GRCm39)	missense	possibly damaging	0.53
R3959:Eed	UTSW	7	89,604,149 (GRCm39)	missense	probably benign	0.10
R4774:Eed	UTSW	7	89,613,976 (GRCm39)	missense	probably damaging	1.00
R5021:Eed	UTSW	7	89,621,513 (GRCm39)	missense	probably damaging	0.98
R5238:Eed	UTSW	7	89,626,173 (GRCm39)	missense	probably benign
R5561:Eed	UTSW	7	89,617,001 (GRCm39)	missense	probably damaging	1.00
R5959:Eed	UTSW	7	89,618,835 (GRCm39)	missense	probably damaging	1.00
R6223:Eed	UTSW	7	89,605,495 (GRCm39)	missense	probably damaging	1.00
R6391:Eed	UTSW	7	89,626,149 (GRCm39)	missense	probably benign	0.00
R6502:Eed	UTSW	7	89,626,237 (GRCm39)	missense	probably benign	0.00
R7021:Eed	UTSW	7	89,629,727 (GRCm39)	missense	possibly damaging	0.53
R7054:Eed	UTSW	7	89,613,935 (GRCm39)	critical splice donor site	probably null
R7808:Eed	UTSW	7	89,605,541 (GRCm39)	missense	probably benign	0.04
R7836:Eed	UTSW	7	89,630,022 (GRCm39)	start gained	probably benign
RF029:Eed	UTSW	7	89,604,240 (GRCm39)	missense	probably benign
RF030:Eed	UTSW	7	89,604,240 (GRCm39)	missense	probably benign
Z1177:Eed	UTSW	7	89,629,723 (GRCm39)	missense	probably benign
Z1177:Eed	UTSW	7	89,629,722 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGTTAAAACAAGCAACGCC -3'
(R):5'- CAAACTCTTACCAGTTGTTTGGAAGG -3'

Sequencing Primer
(F):5'- GGCTATACAGAGAAACCCTGTCTTG -3'
(R):5'- GTGGTATTTCTCAGGCAGAT -3'

Posted On

2019-05-13