Incidental Mutation 'R1018:Eed'
ID 96598
Institutional Source Beutler Lab
Gene Symbol Eed
Ensembl Gene ENSMUSG00000030619
Gene Name embryonic ectoderm development
Synonyms l7Rn5, l(7)5Rn
MMRRC Submission 039122-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1018 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 89603862-89630184 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 89617019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107234] [ENSMUST00000207980] [ENSMUST00000208977]
AlphaFold Q921E6
Predicted Effect probably benign
Transcript: ENSMUST00000107234
SMART Domains Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619

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: ENSMUST00000207996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208643
Predicted Effect probably benign
Transcript: ENSMUST00000208977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208880
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.7%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,837,325 (GRCm39) C403F probably damaging Het
Adam20 C T 8: 41,249,146 (GRCm39) Q419* probably null Het
Ankrd36 C T 11: 5,596,876 (GRCm39) probably benign Het
Arl8b T A 6: 108,795,572 (GRCm39) I170K probably damaging Het
Atp5pb A T 3: 105,861,488 (GRCm39) V78E possibly damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cgnl1 A G 9: 71,633,340 (GRCm39) Y4H probably damaging Het
Cnn2 T C 10: 79,829,397 (GRCm39) C176R probably damaging Het
Dst A G 1: 34,233,174 (GRCm39) D3392G probably damaging Het
Efl1 T A 7: 82,412,221 (GRCm39) V870E possibly damaging Het
Epx T C 11: 87,760,129 (GRCm39) N495S probably benign Het
Fbxw20 T A 9: 109,050,404 (GRCm39) Y407F probably benign Het
Gbp9 T A 5: 105,228,126 (GRCm39) Q552L probably benign Het
Hspa13 C A 16: 75,558,164 (GRCm39) V134L possibly damaging Het
Il16 T C 7: 83,323,746 (GRCm39) N268S probably damaging Het
Kif14 G A 1: 136,423,579 (GRCm39) probably benign Het
Lrig1 G A 6: 94,599,583 (GRCm39) probably benign Het
Myo7a T A 7: 97,756,212 (GRCm39) D29V probably damaging Het
Nsd2 A G 5: 34,000,585 (GRCm39) K34R probably damaging Het
Or4a15 C A 2: 89,193,523 (GRCm39) L83F possibly damaging Het
P3h1 C A 4: 119,095,104 (GRCm39) T287K probably damaging Het
Pkhd1 A T 1: 20,271,483 (GRCm39) H3023Q possibly damaging Het
Plxna1 A G 6: 89,319,942 (GRCm39) L535P probably damaging Het
Prom1 A T 5: 44,187,056 (GRCm39) S400R probably benign Het
Psap T G 10: 60,136,590 (GRCm39) L523R probably damaging Het
Psme4 C T 11: 30,754,310 (GRCm39) T189I probably damaging Het
Ptpn12 A T 5: 21,234,867 (GRCm39) S39T possibly damaging Het
Qtrt2 T A 16: 43,698,363 (GRCm39) H98L possibly damaging Het
Rad54l2 C A 9: 106,589,589 (GRCm39) C601F probably benign Het
Saxo4 A T 19: 10,456,824 (GRCm39) probably benign Het
Sfswap A G 5: 129,631,640 (GRCm39) K756R possibly damaging Het
Slc24a5 T C 2: 124,910,827 (GRCm39) V86A probably damaging Het
Srrm2 T C 17: 24,041,514 (GRCm39) S2575P probably damaging Het
Stam T C 2: 14,122,185 (GRCm39) probably benign Het
Tbx6 T A 7: 126,382,364 (GRCm39) probably benign Het
Tmem131 A C 1: 36,833,900 (GRCm39) F1727V probably damaging Het
Tpr T A 1: 150,317,934 (GRCm39) H2147Q possibly damaging Het
Trio T A 15: 27,871,257 (GRCm39) H620L probably damaging Het
Uba5 T C 9: 103,927,102 (GRCm39) T292A probably benign Het
Unc5a T A 13: 55,138,765 (GRCm39) V48E possibly damaging Het
Upf1 G T 8: 70,791,556 (GRCm39) H514Q possibly damaging Het
Usp9y A G Y: 1,341,414 (GRCm39) probably benign Het
Vmn2r6 T A 3: 64,464,261 (GRCm39) D191V probably benign Het
Wapl T C 14: 34,413,863 (GRCm39) Y242H possibly damaging Het
Zfp341 A T 2: 154,487,972 (GRCm39) N812Y probably damaging Het
Zfp358 C A 8: 3,546,843 (GRCm39) S475* probably null Het
Zfp957 C A 14: 79,450,182 (GRCm39) C539F probably 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
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
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

Sequencing Primer
Posted On 2014-01-05