Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Eed'

305846

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eed

Ensembl Gene

ENSMUSG00000030619

Gene Name

embryonic ectoderm development

Synonyms

l7Rn5, l(7)5Rn

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

89603862-89630184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89621464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 112 (V112G)

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: V112G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: V112G

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

noncoding transcript
Transcript: ENSMUST00000157001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208643

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208977
AA Change: V61G

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

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
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,374,500 (GRCm39)	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,655,837 (GRCm39)	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,638,317 (GRCm39)	T381N	probably benign	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Pou2f1	G	A	1: 165,710,685 (GRCm39)	Q523*	probably null	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Scn1a	G	A	2: 66,155,106 (GRCm39)	R618C	probably damaging	Het
Scn1a	A	T	2: 66,148,421 (GRCm39)	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sprtn	T	C	8: 125,625,042 (GRCm39)	L49P	probably damaging	Het
Sv2a	G	T	3: 96,092,723 (GRCm39)	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Vps41	T	A	13: 19,022,850 (GRCm39)	L404Q	probably damaging	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	possibly damaging	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
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
R7056:Eed	UTSW	7	89,619,564 (GRCm39)	missense	possibly damaging	0.54
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

Posted On

2015-04-16