Incidental Mutation 'R5959:Eed'
ID 471347
Institutional Source Beutler Lab
Gene Symbol Eed
Ensembl Gene ENSMUSG00000030619
Gene Name embryonic ectoderm development
Synonyms l7Rn5, l(7)5Rn
MMRRC Submission 044146-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5959 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 89603862-89630184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89618835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 193 (I193T)
Ref Sequence ENSEMBL: ENSMUSP00000102853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107234] [ENSMUST00000207980] [ENSMUST00000208977]
AlphaFold Q921E6
PDB Structure Structural basis of EZH2 recognition by EED [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000107234
AA Change: I193T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: I193T

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: ENSMUST00000207568
Predicted Effect probably benign
Transcript: ENSMUST00000207980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208880
Predicted Effect probably damaging
Transcript: ENSMUST00000208977
AA Change: I142T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,106,792 (GRCm39) N164Y probably damaging Het
Acp6 A G 3: 97,073,888 (GRCm39) E164G probably damaging Het
Adcy5 A T 16: 35,118,780 (GRCm39) I1044F probably damaging Het
Ahcyl2 A G 6: 29,886,173 (GRCm39) D363G probably damaging Het
Ankrd28 T C 14: 31,451,879 (GRCm39) T273A probably benign Het
Cc2d1a A T 8: 84,860,132 (GRCm39) Y862* probably null Het
Cfap221 T A 1: 119,860,511 (GRCm39) H705L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Chga T C 12: 102,528,114 (GRCm39) S202P probably benign Het
Cnmd T C 14: 79,894,109 (GRCm39) I93V probably damaging Het
Cpne1 G A 2: 155,920,143 (GRCm39) S188L probably benign Het
Dchs2 G A 3: 83,232,725 (GRCm39) V2237I probably benign Het
Dguok C T 6: 83,467,574 (GRCm39) R91H probably benign Het
Fasn C T 11: 120,699,390 (GRCm39) E2353K probably damaging Het
Fpr-rs7 G A 17: 20,334,011 (GRCm39) H160Y probably benign Het
Gramd4 T A 15: 86,011,758 (GRCm39) M272K probably damaging Het
Hfm1 A G 5: 107,022,783 (GRCm39) S940P probably damaging Het
Ifnlr1 T A 4: 135,432,652 (GRCm39) S363T possibly damaging Het
Jak3 A G 8: 72,134,715 (GRCm39) N481D probably damaging Het
Kcnj3 A G 2: 55,327,330 (GRCm39) K40E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Lpcat4 T A 2: 112,070,380 (GRCm39) L31H possibly damaging Het
Myo1c A G 11: 75,548,345 (GRCm39) T38A probably benign Het
Myt1l T C 12: 29,970,039 (GRCm39) probably null Het
Nbas T C 12: 13,338,802 (GRCm39) V214A probably damaging Het
Neb C A 2: 52,046,389 (GRCm39) R6537L probably benign Het
Nwd2 T A 5: 63,965,413 (GRCm39) F1666I probably benign Het
Or52z1 T A 7: 103,436,723 (GRCm39) I254F probably damaging Het
Or8b1 A G 9: 38,400,207 (GRCm39) N294S probably damaging Het
Prmt8 C A 6: 127,706,381 (GRCm39) V137L probably damaging Het
Ptpn21 A T 12: 98,675,148 (GRCm39) probably null Het
Rab15 A G 12: 76,869,043 (GRCm39) S17P probably damaging Het
Rbm5 T G 9: 107,629,339 (GRCm39) I338L probably benign Het
Rragc G A 4: 123,817,767 (GRCm39) S218N probably damaging Het
Sacs T C 14: 61,449,849 (GRCm39) M3965T probably damaging Het
Sgo2b T A 8: 64,380,322 (GRCm39) I837F probably benign Het
Sorcs3 T G 19: 48,737,835 (GRCm39) C751G probably damaging Het
Sowahc A G 10: 59,058,920 (GRCm39) D352G probably benign Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spata31f1e T A 4: 42,793,492 (GRCm39) K213N probably damaging Het
Srr A G 11: 74,801,891 (GRCm39) V126A possibly damaging Het
Tenm3 T A 8: 49,099,482 (GRCm39) R108* probably null Het
Traf3ip2 A T 10: 39,517,337 (GRCm39) M403L probably benign Het
Trappc11 T C 8: 47,954,593 (GRCm39) D949G probably damaging Het
Ttn A G 2: 76,544,960 (GRCm39) I32714T probably damaging Het
Ttn T A 2: 76,693,849 (GRCm39) T218S possibly damaging Het
Uaca A T 9: 60,778,052 (GRCm39) H811L probably damaging Het
Ugt2b1 T C 5: 87,073,813 (GRCm39) E182G probably benign Het
Vmn1r49 T C 6: 90,049,786 (GRCm39) D72G probably damaging Het
Vmn2r80 A T 10: 79,005,313 (GRCm39) M317L probably benign Het
Vwa2 T C 19: 56,869,604 (GRCm39) L13P possibly damaging Het
Zc3hav1 G A 6: 38,284,379 (GRCm39) T912I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp948 A G 17: 21,807,776 (GRCm39) K323E probably benign Het
Zfyve27 T G 19: 42,167,887 (GRCm39) V143G unknown 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
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
Predicted Primers PCR Primer
(F):5'- TGTCTGACATCAACAGGCAG -3'
(R):5'- CATGGTTGAGTGAGAACTACTTG -3'

Sequencing Primer
(F):5'- CAGGCAGAAACCTATTTTTGAAGGC -3'
(R):5'- TTGAGTGAGAACTACTTGAAGTGC -3'
Posted On 2017-03-31