Incidental Mutation 'R1581:Eed'
ID 171406
Institutional Source Beutler Lab
Gene Symbol Eed
Ensembl Gene ENSMUSG00000030619
Gene Name embryonic ectoderm development
Synonyms l7Rn5, l(7)5Rn
MMRRC Submission 039618-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1581 (G1)
Quality Score 173
Status Not validated
Chromosome 7
Chromosomal Location 89603862-89630184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89629676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 20 (K20E)
Ref Sequence ENSEMBL: ENSMUSP00000146812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107234] [ENSMUST00000208977]
AlphaFold Q921E6
Predicted Effect probably benign
Transcript: ENSMUST00000107234
AA Change: K20E

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: K20E

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: ENSMUST00000157001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208643
Predicted Effect possibly damaging
Transcript: ENSMUST00000208977
AA Change: K20E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.6%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,063,347 (GRCm39) E447G probably benign Het
Actn4 T C 7: 28,598,071 (GRCm39) T510A probably benign Het
Adgrb3 A G 1: 25,133,153 (GRCm39) M1311T possibly damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bicdl1 G T 5: 115,789,326 (GRCm39) probably benign Het
Bmyc T C 2: 25,597,346 (GRCm39) S137P probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Casc3 C T 11: 98,713,644 (GRCm39) T292I possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cibar1 T A 4: 12,155,745 (GRCm39) probably null Het
Cnnm2 A G 19: 46,751,562 (GRCm39) T451A probably damaging Het
Eps15 T A 4: 109,220,383 (GRCm39) M180K probably benign Het
Esr1 T C 10: 4,947,905 (GRCm39) I486T probably damaging Het
Etnppl A G 3: 130,422,393 (GRCm39) I207V possibly damaging Het
Fancg G A 4: 43,007,039 (GRCm39) P246L probably damaging Het
Fcrl1 G A 3: 87,293,030 (GRCm39) C249Y possibly damaging Het
Foxred2 A G 15: 77,839,961 (GRCm39) F110L possibly damaging Het
Fsip2 A T 2: 82,816,626 (GRCm39) N4120Y probably damaging Het
Gm4884 C T 7: 40,693,255 (GRCm39) S408L probably benign Het
Gm9476 T C 10: 100,142,474 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,127,836 (GRCm39) probably null Het
H6pd T A 4: 150,066,971 (GRCm39) I472F possibly damaging Het
Hydin A T 8: 111,137,092 (GRCm39) M632L probably benign Het
Hyou1 C T 9: 44,300,167 (GRCm39) P819S probably damaging Het
Il6st A G 13: 112,618,075 (GRCm39) E163G probably damaging Het
Kcnk1 T C 8: 126,722,278 (GRCm39) V27A possibly damaging Het
Kdelr3 T C 15: 79,407,114 (GRCm39) probably null Het
Klk1b22 A G 7: 43,765,399 (GRCm39) N117S possibly damaging Het
Klrh1 T C 6: 129,752,796 (GRCm39) D3G probably benign Het
Lpp C A 16: 24,500,591 (GRCm39) C134* probably null Het
Lrrc37a G A 11: 103,347,843 (GRCm39) R2951* probably null Het
Luzp2 T A 7: 54,899,238 (GRCm39) D285E possibly damaging Het
Ly75 C T 2: 60,158,237 (GRCm39) R1016H probably damaging Het
Mesp2 T A 7: 79,462,289 (GRCm39) S282T possibly damaging Het
Nav3 T C 10: 109,659,289 (GRCm39) D776G probably damaging Het
Nr2e1 T C 10: 42,443,964 (GRCm39) T253A probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or1r1 A T 11: 73,875,347 (GRCm39) L29H probably damaging Het
Padi6 T C 4: 140,463,147 (GRCm39) Y146C probably damaging Het
Pank4 C T 4: 155,059,108 (GRCm39) R414W probably damaging Het
Pclo T G 5: 14,571,296 (GRCm39) I227S probably benign Het
Plppr4 A G 3: 117,121,915 (GRCm39) V221A possibly damaging Het
Pradc1 G A 6: 85,425,568 (GRCm39) R25C probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rnd2 A G 11: 101,362,022 (GRCm39) T192A probably benign Het
Rtbdn A G 8: 85,681,695 (GRCm39) E131G probably benign Het
Ryr2 A G 13: 11,809,449 (GRCm39) V792A probably benign Het
Sacs G T 14: 61,451,128 (GRCm39) Q4391H probably damaging Het
Scd2 A G 19: 44,286,538 (GRCm39) S123G probably benign Het
Septin9 A G 11: 117,181,421 (GRCm39) R74G probably damaging Het
Sipa1l2 T A 8: 126,218,356 (GRCm39) Q327L probably damaging Het
Skor1 T C 9: 63,053,505 (GRCm39) T127A probably damaging Het
Sphk2 A G 7: 45,362,920 (GRCm39) V57A probably damaging Het
Tfec A T 6: 16,844,243 (GRCm39) D101E probably damaging Het
Tmem43 T A 6: 91,455,717 (GRCm39) H109Q probably benign Het
Tmem67 C A 4: 12,047,814 (GRCm39) S839I probably damaging Het
Trpv5 T C 6: 41,630,074 (GRCm39) Y672C probably damaging Het
Ttc39d A C 17: 80,523,913 (GRCm39) S191R probably benign Het
Ttll1 C T 15: 83,380,478 (GRCm39) V296M probably damaging Het
Upp2 A C 2: 58,664,177 (GRCm39) K130T possibly damaging Het
Vmn2r5 A G 3: 64,398,640 (GRCm39) C780R probably damaging Het
Wars1 C A 12: 108,841,635 (GRCm39) E171* probably null Het
Zeb2 A T 2: 44,887,012 (GRCm39) S637T probably damaging Het
Zfp27 T A 7: 29,595,549 (GRCm39) T139S possibly damaging Het
Zfp941 A T 7: 140,392,033 (GRCm39) L442Q probably benign 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
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
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'- CGCAGACCCTTTGGGACCTTTAATC -3'
(R):5'- CAATTGCGGATGAAACGTCTTGGC -3'

Sequencing Primer
(F):5'- GCAGTCCCAGCTCGAAAG -3'
(R):5'- TTTgcgacagtgggggg -3'
Posted On 2014-04-13