Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Eed'

40401

Institutional Source

Beutler Lab

Gene Symbol

Eed

Ensembl Gene

ENSMUSG00000030619

Gene Name

embryonic ectoderm development

Synonyms

l7Rn5, l(7)5Rn

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R0417 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

89954654-89980983 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 89971552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 87 (Y87*)

Ref Sequence

ENSEMBL: ENSMUSP00000146812 (fasta)

Gene Model

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

AlphaFold

Q921E6

Predicted Effect

probably null
Transcript: ENSMUST00000107234
AA Change: Y138*

SMART Domains

Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: Y138*

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: ENSMUST00000207568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208643

Predicted Effect

probably null
Transcript: ENSMUST00000208977
AA Change: Y87*

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	A	G	7: 4,151,483 (GRCm38)	L102P	probably damaging	Het
1700030K09Rik	A	G	8: 72,445,400 (GRCm38)	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,186,944 (GRCm38)	Y112H	probably damaging	Het
A430078G23Rik	T	C	8: 3,388,957 (GRCm38)		probably benign	Het
Acot2	T	C	12: 83,990,613 (GRCm38)	Y234H	probably benign	Het
Alox12e	C	T	11: 70,321,865 (GRCm38)	V53I	probably benign	Het
Ankrd50	T	C	3: 38,456,361 (GRCm38)	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,603,511 (GRCm38)	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,033 (GRCm38)	S82G	possibly damaging	Het
Bicra	C	A	7: 15,972,322 (GRCm38)	R1398L	probably damaging	Het
Boc	T	C	16: 44,520,234 (GRCm38)	T118A	probably benign	Het
Btnl9	A	G	11: 49,175,595 (GRCm38)	Y381H	probably damaging	Het
Cbln3	T	G	14: 55,884,129 (GRCm38)	E20A	probably benign	Het
Csrnp3	A	G	2: 66,019,543 (GRCm38)	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,455,951 (GRCm38)	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,096,691 (GRCm38)	T295S	probably damaging	Het
Dbn1	C	T	13: 55,474,916 (GRCm38)	E585K	probably damaging	Het
Dok1	A	T	6: 83,031,569 (GRCm38)	D377E	probably damaging	Het
Entpd3	T	C	9: 120,557,421 (GRCm38)	V156A	probably damaging	Het
Exo5	T	A	4: 120,922,072 (GRCm38)	T199S	probably damaging	Het
Extl2	T	C	3: 116,024,357 (GRCm38)	I106T	probably benign	Het
Ezh2	A	G	6: 47,551,726 (GRCm38)	C291R	probably benign	Het
Flvcr1	A	T	1: 191,011,219 (GRCm38)	M466K	probably benign	Het
Fras1	G	T	5: 96,691,372 (GRCm38)	M1583I	probably benign	Het
Fzd9	G	T	5: 135,249,619 (GRCm38)	R471S	probably damaging	Het
Galr1	A	T	18: 82,405,540 (GRCm38)	F204Y	probably damaging	Het
Gm38394	A	T	1: 133,658,538 (GRCm38)	S354T	probably benign	Het
Gna11	A	T	10: 81,530,904 (GRCm38)	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484 (GRCm38)	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,788,762 (GRCm38)	A254T	probably benign	Het
Ikzf1	A	C	11: 11,769,352 (GRCm38)	N353T	probably benign	Het
Il7	T	A	3: 7,576,027 (GRCm38)	T110S	probably damaging	Het
Keg1	A	G	19: 12,711,060 (GRCm38)	N53D	probably damaging	Het
Klhl21	T	C	4: 152,015,507 (GRCm38)	I558T	probably damaging	Het
Lca5l	G	A	16: 96,162,653 (GRCm38)	T357M	probably damaging	Het
Lrba	T	C	3: 86,715,654 (GRCm38)	S2448P	probably damaging	Het
Map3k6	T	A	4: 133,248,082 (GRCm38)	Y709*	probably null	Het
Megf6	A	G	4: 154,267,967 (GRCm38)	E1261G	probably benign	Het
Mettl3	C	T	14: 52,296,698 (GRCm38)	G473D	probably damaging	Het
Mga	A	G	2: 119,902,790 (GRCm38)	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602 (GRCm38)	D232E	probably benign	Het
Nampt	T	C	12: 32,833,101 (GRCm38)	V95A	probably benign	Het
Nbeal1	T	C	1: 60,247,734 (GRCm38)	V905A	probably benign	Het
Nomo1	A	T	7: 46,068,698 (GRCm38)	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,543,298 (GRCm38)	I101F	probably damaging	Het
Nup160	A	T	2: 90,735,427 (GRCm38)	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,326,979 (GRCm38)	S69P	probably damaging	Het
Olfr1105	A	T	2: 87,033,445 (GRCm38)	Y259N	probably damaging	Het
Olfr1240	C	A	2: 89,440,175 (GRCm38)	V35L	possibly damaging	Het
Olfr1283	A	G	2: 111,369,105 (GRCm38)	S158G	possibly damaging	Het
Olfr1390	T	A	11: 49,340,673 (GRCm38)	I47N	possibly damaging	Het
Olfr143	T	C	9: 38,253,864 (GRCm38)	F149S	probably benign	Het
Olfr870	G	A	9: 20,171,214 (GRCm38)	A119V	probably damaging	Het
Olfr894	A	G	9: 38,219,455 (GRCm38)	I211V	probably benign	Het
Osbpl3	C	T	6: 50,348,018 (GRCm38)	V167I	probably benign	Het
Pclo	T	A	5: 14,713,022 (GRCm38)	H3836Q	unknown	Het
Prkcg	A	T	7: 3,304,304 (GRCm38)		probably null	Het
Ror1	A	T	4: 100,412,000 (GRCm38)	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,181,544 (GRCm38)		probably null	Het
Slc40a1	G	A	1: 45,911,374 (GRCm38)	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,457,344 (GRCm38)	T239K	probably benign	Het
Snapc3	A	G	4: 83,450,162 (GRCm38)	I299V	probably benign	Het
Sp3	G	A	2: 72,971,501 (GRCm38)	A56V	possibly damaging	Het
Spag17	T	A	3: 100,065,554 (GRCm38)	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,737,926 (GRCm38)	T978A	probably benign	Het
Stom	C	A	2: 35,321,632 (GRCm38)	V126F	probably damaging	Het
Stpg2	A	G	3: 139,218,321 (GRCm38)	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,902,957 (GRCm38)	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,921,350 (GRCm38)	I69S	probably benign	Het
Tbata	A	T	10: 61,180,339 (GRCm38)	D198V	probably damaging	Het
Tbc1d5	T	C	17: 50,756,705 (GRCm38)	I638V	probably benign	Het
Tomm70a	A	G	16: 57,149,903 (GRCm38)	D548G	probably benign	Het
Ust	A	G	10: 8,245,936 (GRCm38)	F303L	probably damaging	Het
Vps13d	A	G	4: 144,976,560 (GRCm38)	S4306P	probably benign	Het
Zfp691	A	G	4: 119,170,496 (GRCm38)	S180P	possibly damaging	Het

Other mutations in Eed

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Eed	APN	7	89,969,595 (GRCm38)	missense	possibly damaging	0.71
IGL02232:Eed	APN	7	89,972,285 (GRCm38)	missense	probably damaging	1.00
IGL02740:Eed	APN	7	89,972,256 (GRCm38)	missense	possibly damaging	0.91
R1018:Eed	UTSW	7	89,967,811 (GRCm38)	splice site	probably benign
R1581:Eed	UTSW	7	89,980,468 (GRCm38)	missense	possibly damaging	0.53
R3959:Eed	UTSW	7	89,954,941 (GRCm38)	missense	probably benign	0.10
R4774:Eed	UTSW	7	89,964,768 (GRCm38)	missense	probably damaging	1.00
R5021:Eed	UTSW	7	89,972,305 (GRCm38)	missense	probably damaging	0.98
R5238:Eed	UTSW	7	89,976,965 (GRCm38)	missense	probably benign
R5561:Eed	UTSW	7	89,967,793 (GRCm38)	missense	probably damaging	1.00
R5959:Eed	UTSW	7	89,969,627 (GRCm38)	missense	probably damaging	1.00
R6223:Eed	UTSW	7	89,956,287 (GRCm38)	missense	probably damaging	1.00
R6391:Eed	UTSW	7	89,976,941 (GRCm38)	missense	probably benign	0.00
R6502:Eed	UTSW	7	89,977,029 (GRCm38)	missense	probably benign	0.00
R7021:Eed	UTSW	7	89,980,519 (GRCm38)	missense	possibly damaging	0.53
R7054:Eed	UTSW	7	89,964,727 (GRCm38)	critical splice donor site	probably null
R7056:Eed	UTSW	7	89,970,356 (GRCm38)	missense	possibly damaging	0.54
R7808:Eed	UTSW	7	89,956,333 (GRCm38)	missense	probably benign	0.04
R7836:Eed	UTSW	7	89,980,814 (GRCm38)	start gained	probably benign
RF029:Eed	UTSW	7	89,955,032 (GRCm38)	missense	probably benign
RF030:Eed	UTSW	7	89,955,032 (GRCm38)	missense	probably benign
Z1177:Eed	UTSW	7	89,980,515 (GRCm38)	missense	probably benign
Z1177:Eed	UTSW	7	89,980,514 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAAGTCCAACATCAGGTAGATGCCAG -3'
(R):5'- CAACAGAGTGAGTGTCGGGTGG -3'

Sequencing Primer
(F):5'- CAGGTAGATGCCAGGACGC -3'
(R):5'- atccacctgcctctgcc -3'

Posted On

2013-05-23