Incidental Mutation 'R6223:Eed'
ID 504144
Institutional Source Beutler Lab
Gene Symbol Eed
Ensembl Gene ENSMUSG00000030619
Gene Name embryonic ectoderm development
Synonyms l7Rn5, l(7)5Rn
MMRRC Submission 044354-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R6223 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 89603862-89630184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89605495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 365 (Y365H)
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 damaging
Transcript: ENSMUST00000107234
AA Change: Y365H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: Y365H

DomainStartEndE-ValueType
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: ENSMUST00000207609
Predicted Effect probably benign
Transcript: ENSMUST00000207980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208245
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,269,873 (GRCm39) R8S probably benign Het
Abca8b A G 11: 109,868,672 (GRCm39) V164A probably benign Het
Acadm C A 3: 153,644,186 (GRCm39) probably null Het
Ap3b2 G A 7: 81,123,210 (GRCm39) R435* probably null Het
Art2b A G 7: 101,229,158 (GRCm39) F247S possibly damaging Het
C1rb T A 6: 124,551,539 (GRCm39) D216E probably benign Het
Casz1 C A 4: 149,017,840 (GRCm39) D90E probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdc25a C A 9: 109,718,842 (GRCm39) P409T possibly damaging Het
Cidea A C 18: 67,491,809 (GRCm39) K23T possibly damaging Het
Clspn T A 4: 126,479,961 (GRCm39) D1101E probably damaging Het
Col10a1 A T 10: 34,271,183 (GRCm39) D385V probably damaging Het
Crat C T 2: 30,297,042 (GRCm39) V304I probably benign Het
Cyp2d26 A T 15: 82,675,918 (GRCm39) W265R probably benign Het
Dock8 A T 19: 25,138,416 (GRCm39) Y1247F probably benign Het
Dync2i1 T C 12: 116,221,078 (GRCm39) D11G possibly damaging Het
Fabp5 T A 3: 10,080,170 (GRCm39) F73L probably benign Het
Fbn1 C T 2: 125,254,591 (GRCm39) C224Y possibly damaging Het
Ggcx T C 6: 72,406,588 (GRCm39) F684L probably damaging Het
Glrp1 G A 1: 88,431,164 (GRCm39) Q69* probably null Het
Gm29797 T C 2: 181,300,850 (GRCm39) V115A possibly damaging Het
Gtf3c1 C T 7: 125,275,797 (GRCm39) R543K probably benign Het
Ifih1 T C 2: 62,428,603 (GRCm39) I891V probably benign Het
Ifnar2 C T 16: 91,184,876 (GRCm39) T89M probably damaging Het
Kat6a C A 8: 23,430,442 (GRCm39) N1932K unknown Het
Mgat5 A T 1: 127,310,716 (GRCm39) D210V possibly damaging Het
Mmel1 A G 4: 154,956,159 (GRCm39) probably null Het
Myh3 G T 11: 66,988,843 (GRCm39) V1499L probably benign Het
Ncan A C 8: 70,562,604 (GRCm39) D551E probably benign Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Olfml3 G A 3: 103,643,776 (GRCm39) R202W probably damaging Het
Or2w4 G A 13: 21,795,536 (GRCm39) T201I probably benign Het
Or4e2 A G 14: 52,688,136 (GRCm39) R89G probably benign Het
Pcdh9 T C 14: 93,253,169 (GRCm39) K1131E probably benign Het
Pcolce A G 5: 137,603,561 (GRCm39) M424T probably damaging Het
Pi16 C A 17: 29,546,413 (GRCm39) S397* probably null Het
Pi4ka A T 16: 17,175,435 (GRCm39) Y464* probably null Het
Pik3c2b T A 1: 132,998,095 (GRCm39) L324M probably damaging Het
Prdm2 T C 4: 142,868,777 (GRCm39) N179S probably benign Het
Prss56 C T 1: 87,113,134 (GRCm39) P183S probably benign Het
Prx T G 7: 27,216,261 (GRCm39) M393R probably damaging Het
Qpctl T C 7: 18,877,134 (GRCm39) D328G probably damaging Het
Qser1 A G 2: 104,617,993 (GRCm39) S940P probably benign Het
Rchy1 G A 5: 92,105,826 (GRCm39) R41W probably damaging Het
Scp2d1 T C 2: 144,665,868 (GRCm39) I69T possibly damaging Het
Sirpb1a A G 3: 15,444,086 (GRCm39) V388A probably benign Het
Ssu2 G T 6: 112,353,409 (GRCm39) C238* probably null Het
Stub1 C T 17: 26,051,787 (GRCm39) G14D probably damaging Het
Tab1 T A 15: 80,032,464 (GRCm39) C24S probably damaging Het
Tdrd1 T C 19: 56,854,282 (GRCm39) V1076A probably damaging Het
Tex10 T C 4: 48,468,525 (GRCm39) R134G probably damaging Het
Tg T A 15: 66,579,771 (GRCm39) N1525K probably benign Het
Tll2 G A 19: 41,124,391 (GRCm39) T208I possibly damaging Het
Tmem232 T C 17: 65,807,191 (GRCm39) M1V probably null Het
Ttc7b A G 12: 100,353,368 (GRCm39) probably null Het
Ubb A G 11: 62,443,351 (GRCm39) E127G possibly damaging Het
Ulk2 A T 11: 61,678,330 (GRCm39) Y796* probably null Het
Vdac2 G A 14: 21,895,246 (GRCm39) G265R possibly damaging Het
Vmn2r45 A T 7: 8,486,301 (GRCm39) V329E probably benign Het
Zbtb47 G A 9: 121,592,853 (GRCm39) R391Q possibly damaging Het
Other mutations in Eed
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CAGATAATGCTTGCAGGTCGC -3'
(R):5'- TATAGTCTTGGAAAGTAGGCTCTC -3'

Sequencing Primer
(F):5'- TAATGCTTGCAGGTCGCCAAAG -3'
(R):5'- GCTGGAAACCTGGCAAAA -3'
Posted On 2018-02-28