Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Eed'

604315

Institutional Source

Beutler Lab

Gene Symbol

Eed

Ensembl Gene

ENSMUSG00000030619

Gene Name

embryonic ectoderm development

Synonyms

l7Rn5, l(7)5Rn

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

RF030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89603862-89630184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89604240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 411 (A411S)

Ref Sequence

ENSEMBL: ENSMUSP00000102853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107234] [ENSMUST00000207980]

AlphaFold

Q921E6

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107234
AA Change: A411S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: A411S

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: ENSMUST00000207980

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,475,254 (GRCm39)	probably benign	Het
AI837181	GGC	GGCCGC	19: 5,475,263 (GRCm39)	probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)	probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,693,966 (GRCm39)	probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,693,980 (GRCm39)	probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 21,433,916 (GRCm39)	probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,523,384 (GRCm39)	probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,129,692 (GRCm39)	probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,810,151 (GRCm39)	probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,811,795 (GRCm39)	probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)	probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)	probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,466,607 (GRCm39)	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)	probably benign	Het
Fer1l4	GGTC	G	2: 155,887,449 (GRCm39)	probably benign	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)	probably benign	Het
Gab3	CTTTT	CT	X: 74,043,583 (GRCm39)	probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,632 (GRCm39)	probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,631 (GRCm39)	probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,614 (GRCm39)	probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,611 (GRCm39)	probably benign	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,037 (GRCm39)	probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)	probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)	probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,108,241 (GRCm39)	probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647 (GRCm39)	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)	probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,179,991 (GRCm39)	probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)	probably benign	Het
Irag2	ATTG	ATTGAGCACGTTG	6: 145,119,514 (GRCm39)	probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)	probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,285,802 (GRCm39)	probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 92,925,448 (GRCm39)	probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 92,925,651 (GRCm39)	probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,434 (GRCm39)	probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,136,792 (GRCm39)	probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,136,798 (GRCm39)	probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)	probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)	probably null	Het
Pdik1l	C	CCACCAA	4: 134,006,827 (GRCm39)	probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,421,898 (GRCm39)	probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)	probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,473 (GRCm39)	probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,384,483 (GRCm39)	probably benign	Het
Six5	CGGA	C	7: 18,828,725 (GRCm39)	probably benign	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)	probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,968,795 (GRCm39)	probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,966,640 (GRCm39)	probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,966,646 (GRCm39)	probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,038 (GRCm39)	probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)	probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,037 (GRCm39)	probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)	probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)	probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)	probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,673,174 (GRCm39)	probably benign	Het
Tsen2	GGA	GGACGA	6: 115,537,028 (GRCm39)	probably benign	Het
Wdr97	AGGAGGAGG	AG	15: 76,247,365 (GRCm39)	probably null	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)	probably benign	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
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
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'- AATGCTCTATGTGCCCTTACTAGC -3'
(R):5'- GAAATTTGAGAATGAATCCTTGGGG -3'

Sequencing Primer
(F):5'- TGTGCCCTTACTAGCAAGATAC -3'
(R):5'- TGGCTGTCCTGGAACTCAGAAATC -3'

Posted On

2019-12-04