Mutagenetix > Incidental Mutation

Incidental Mutation 'R7021:Eed'

545629

Institutional Source

Beutler Lab

Gene Symbol

Eed

Ensembl Gene

ENSMUSG00000030619

Gene Name

embryonic ectoderm development

Synonyms

l7Rn5, l(7)5Rn

MMRRC Submission

045122-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89603862-89630184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89629727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 3 (E3K)

Ref Sequence

ENSEMBL: ENSMUSP00000146812 (fasta)

Gene Model

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

AlphaFold

Q921E6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107234
AA Change: E3K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: E3K

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

possibly damaging
Transcript: ENSMUST00000208977
AA Change: E3K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1149

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,442,062 (GRCm39)	L63R	probably damaging	Het
Abcb5	C	T	12: 118,895,660 (GRCm39)	V379I	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ahsa1	T	C	12: 87,318,154 (GRCm39)	S37P	possibly damaging	Het
Arnt2	A	T	7: 83,993,150 (GRCm39)	L130H	probably damaging	Het
Atp8b5	T	A	4: 43,355,618 (GRCm39)	F533I	probably damaging	Het
Best1	A	G	19: 9,964,143 (GRCm39)	V439A	probably benign	Het
Bicc1	A	G	10: 70,796,978 (GRCm39)	V127A	probably damaging	Het
Brd7	T	C	8: 89,073,632 (GRCm39)	T253A	probably benign	Het
Btd	A	G	14: 31,389,788 (GRCm39)	D503G	probably benign	Het
Ccdc80	A	G	16: 44,924,804 (GRCm39)	E646G	probably damaging	Het
Ccl25	A	G	8: 4,399,641 (GRCm39)		probably benign	Het
Ccnf	C	A	17: 24,461,205 (GRCm39)	W150L	probably damaging	Het
Cdk11b	A	T	4: 155,726,024 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,768,149 (GRCm39)	E203G	probably benign	Het
Cmya5	T	C	13: 93,230,063 (GRCm39)	E1675G	possibly damaging	Het
Copg1	T	A	6: 87,871,087 (GRCm39)	Y268N	possibly damaging	Het
Csnk2a1	T	A	2: 152,102,732 (GRCm39)	H126Q	probably damaging	Het
Ctbs	G	A	3: 146,160,703 (GRCm39)	G90D	probably damaging	Het
Ctnna2	T	C	6: 77,613,888 (GRCm39)	Y221C	probably damaging	Het
Cypt12	C	T	3: 18,002,635 (GRCm39)	R3C	unknown	Het
D630003M21Rik	A	T	2: 158,058,670 (GRCm39)	M410K	possibly damaging	Het
Dnah9	A	T	11: 65,872,057 (GRCm39)	N2724K	probably benign	Het
Dok3	T	C	13: 55,672,097 (GRCm39)	T194A	probably benign	Het
Edem3	T	G	1: 151,631,423 (GRCm39)	S36A	probably benign	Het
Efcab2	A	G	1: 178,308,925 (GRCm39)	I143V	probably benign	Het
Ensa	A	T	3: 95,534,359 (GRCm39)		probably null	Het
Galnt16	A	T	12: 80,626,826 (GRCm39)	E219V	probably damaging	Het
Gfra3	C	A	18: 34,823,933 (GRCm39)	R347L	probably benign	Het
Gm2042	T	A	12: 87,927,009 (GRCm39)	I442K	probably damaging	Het
Gpld1	A	T	13: 25,168,691 (GRCm39)	D735V	probably damaging	Het
Hspg2	T	C	4: 137,269,580 (GRCm39)	S2253P	possibly damaging	Het
Kit	T	C	5: 75,781,627 (GRCm39)	I352T	probably benign	Het
Klra6	A	T	6: 129,995,821 (GRCm39)	V179E	possibly damaging	Het
Lctl	T	A	9: 64,040,075 (GRCm39)		probably null	Het
Lman1	C	A	18: 66,124,714 (GRCm39)	V342L	probably benign	Het
Lrrn2	T	C	1: 132,866,522 (GRCm39)	L529P	probably damaging	Het
Mab21l2	A	G	3: 86,454,793 (GRCm39)	I69T	probably benign	Het
Mapkapk5	G	T	5: 121,665,274 (GRCm39)	A327E	probably benign	Het
Mex3b	G	T	7: 82,519,080 (GRCm39)	R465L	possibly damaging	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat4c	A	G	10: 102,224,289 (GRCm39)	R168G	possibly damaging	Het
Mkks	A	G	2: 136,718,007 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,466,215 (GRCm39)	H7368N	unknown	Het
Muc16	T	C	9: 18,462,127 (GRCm39)		probably null	Het
Nbeal1	G	A	1: 60,300,745 (GRCm39)		probably null	Het
Notch2	T	C	3: 98,042,762 (GRCm39)	S1376P	probably benign	Het
Obox5	A	G	7: 15,491,681 (GRCm39)		probably null	Het
Or10j5	T	C	1: 172,784,494 (GRCm39)	I44T	probably benign	Het
Or6c8b	A	T	10: 128,882,899 (GRCm39)	I11N	probably damaging	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pitrm1	T	A	13: 6,628,593 (GRCm39)	V962E	probably damaging	Het
Pkd2l1	T	C	19: 44,142,647 (GRCm39)	Q465R	probably damaging	Het
Pla1a	A	G	16: 38,221,244 (GRCm39)	I372T	probably damaging	Het
Prmt5	A	C	14: 54,752,845 (GRCm39)	F122C	probably damaging	Het
Prrc2b	T	A	2: 32,111,498 (GRCm39)	S1905T	probably damaging	Het
Ptprf	T	G	4: 118,081,101 (GRCm39)	K1163N	probably benign	Het
Rab3ip	A	G	10: 116,775,283 (GRCm39)	V25A	probably damaging	Het
Raf1	T	C	6: 115,597,300 (GRCm39)		probably null	Het
Rnf180	T	C	13: 105,407,429 (GRCm39)	E40G	probably benign	Het
Rpl6	T	A	5: 121,346,972 (GRCm39)	M289K	probably benign	Het
Slc25a32	A	G	15: 38,963,321 (GRCm39)	F167L	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc4a4	T	A	5: 89,188,205 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,769,663 (GRCm39)		probably null	Het
Tbr1	T	A	2: 61,637,688 (GRCm39)	D82E	probably benign	Het
Tbx10	A	T	19: 4,048,961 (GRCm39)	T291S	probably benign	Het
Tlr1	T	A	5: 65,083,056 (GRCm39)	H507L	possibly damaging	Het
Trim37	A	C	11: 87,058,335 (GRCm39)	T338P	probably benign	Het
Trpv5	T	C	6: 41,630,204 (GRCm39)	T629A	probably benign	Het
Ttc14	T	A	3: 33,857,646 (GRCm39)	I249N	probably damaging	Het
Uhrf1	A	G	17: 56,627,450 (GRCm39)	T661A	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vwde	T	C	6: 13,186,905 (GRCm39)	N861D	probably damaging	Het
Zan	A	G	5: 137,422,213 (GRCm39)	C2802R	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TGGGACCTTTAATCCGCTCC -3'
(R):5'- TCGGTGCAAAGTGTCGAGAG -3'

Sequencing Primer
(F):5'- GCTTGCTATCTGCCGCAG -3'
(R):5'- GCCCCTTTTTCAGCAGTGTGG -3'

Posted On

2019-05-13