Incidental Mutation 'R0417:Eed'
ID 40401
Institutional Source Beutler Lab
Gene Symbol Eed
Ensembl Gene ENSMUSG00000030619
Gene Name embryonic ectoderm development
Synonyms l7Rn5, l(7)5Rn
MMRRC Submission 038619-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R0417 (G1)
Quality Score 144
Status Not validated
Chromosome 7
Chromosomal Location 89954654-89980983 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 89971552 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 87 (Y87*)
Ref Sequence ENSEMBL: ENSMUSP00000146812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107234] [ENSMUST00000208977]
AlphaFold Q921E6
Predicted Effect probably null
Transcript: ENSMUST00000107234
AA Change: Y138*
SMART Domains Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: Y138*

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 noncoding transcript
Transcript: ENSMUST00000208196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208643
Predicted Effect probably null
Transcript: ENSMUST00000208977
AA Change: Y87*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700027J19Rik A G 7: 4,151,483 (GRCm38) L102P probably damaging Het
1700030K09Rik A G 8: 72,445,400 (GRCm38) K217R probably damaging Het
1810024B03Rik A G 2: 127,186,944 (GRCm38) Y112H probably damaging Het
A430078G23Rik T C 8: 3,388,957 (GRCm38) probably benign Het
Acot2 T C 12: 83,990,613 (GRCm38) Y234H probably benign Het
Alox12e C T 11: 70,321,865 (GRCm38) V53I probably benign Het
Ankrd50 T C 3: 38,456,361 (GRCm38) H619R probably damaging Het
Arfgef3 A T 10: 18,603,511 (GRCm38) L1452Q probably damaging Het
Arhgap42 T C 9: 9,180,033 (GRCm38) S82G possibly damaging Het
Bicra C A 7: 15,972,322 (GRCm38) R1398L probably damaging Het
Boc T C 16: 44,520,234 (GRCm38) T118A probably benign Het
Btnl9 A G 11: 49,175,595 (GRCm38) Y381H probably damaging Het
Cbln3 T G 14: 55,884,129 (GRCm38) E20A probably benign Het
Csrnp3 A G 2: 66,019,543 (GRCm38) Y171C probably benign Het
Cyp2d9 A T 15: 82,455,951 (GRCm38) I181F probably damaging Het
Cyp7b1 T A 3: 18,096,691 (GRCm38) T295S probably damaging Het
Dbn1 C T 13: 55,474,916 (GRCm38) E585K probably damaging Het
Dok1 A T 6: 83,031,569 (GRCm38) D377E probably damaging Het
Entpd3 T C 9: 120,557,421 (GRCm38) V156A probably damaging Het
Exo5 T A 4: 120,922,072 (GRCm38) T199S probably damaging Het
Extl2 T C 3: 116,024,357 (GRCm38) I106T probably benign Het
Ezh2 A G 6: 47,551,726 (GRCm38) C291R probably benign Het
Flvcr1 A T 1: 191,011,219 (GRCm38) M466K probably benign Het
Fras1 G T 5: 96,691,372 (GRCm38) M1583I probably benign Het
Fzd9 G T 5: 135,249,619 (GRCm38) R471S probably damaging Het
Galr1 A T 18: 82,405,540 (GRCm38) F204Y probably damaging Het
Gm38394 A T 1: 133,658,538 (GRCm38) S354T probably benign Het
Gna11 A T 10: 81,530,904 (GRCm38) I324N probably damaging Het
Gucy1a2 A G 9: 3,759,484 (GRCm38) E430G possibly damaging Het
Hhatl C T 9: 121,788,762 (GRCm38) A254T probably benign Het
Ikzf1 A C 11: 11,769,352 (GRCm38) N353T probably benign Het
Il7 T A 3: 7,576,027 (GRCm38) T110S probably damaging Het
Keg1 A G 19: 12,711,060 (GRCm38) N53D probably damaging Het
Klhl21 T C 4: 152,015,507 (GRCm38) I558T probably damaging Het
Lca5l G A 16: 96,162,653 (GRCm38) T357M probably damaging Het
Lrba T C 3: 86,715,654 (GRCm38) S2448P probably damaging Het
Map3k6 T A 4: 133,248,082 (GRCm38) Y709* probably null Het
Megf6 A G 4: 154,267,967 (GRCm38) E1261G probably benign Het
Mettl3 C T 14: 52,296,698 (GRCm38) G473D probably damaging Het
Mga A G 2: 119,902,790 (GRCm38) I40V probably damaging Het
Mmp13 T A 9: 7,276,602 (GRCm38) D232E probably benign Het
Nampt T C 12: 32,833,101 (GRCm38) V95A probably benign Het
Nbeal1 T C 1: 60,247,734 (GRCm38) V905A probably benign Het
Nomo1 A T 7: 46,068,698 (GRCm38) E840V possibly damaging Het
Nprl2 A T 9: 107,543,298 (GRCm38) I101F probably damaging Het
Nup160 A T 2: 90,735,427 (GRCm38) I1378F possibly damaging Het
Ogdhl T C 14: 32,326,979 (GRCm38) S69P probably damaging Het
Olfr1105 A T 2: 87,033,445 (GRCm38) Y259N probably damaging Het
Olfr1240 C A 2: 89,440,175 (GRCm38) V35L possibly damaging Het
Olfr1283 A G 2: 111,369,105 (GRCm38) S158G possibly damaging Het
Olfr1390 T A 11: 49,340,673 (GRCm38) I47N possibly damaging Het
Olfr143 T C 9: 38,253,864 (GRCm38) F149S probably benign Het
Olfr870 G A 9: 20,171,214 (GRCm38) A119V probably damaging Het
Olfr894 A G 9: 38,219,455 (GRCm38) I211V probably benign Het
Osbpl3 C T 6: 50,348,018 (GRCm38) V167I probably benign Het
Pclo T A 5: 14,713,022 (GRCm38) H3836Q unknown Het
Prkcg A T 7: 3,304,304 (GRCm38) probably null Het
Ror1 A T 4: 100,412,000 (GRCm38) H345L possibly damaging Het
Slc36a2 C T 11: 55,181,544 (GRCm38) probably null Het
Slc40a1 G A 1: 45,911,374 (GRCm38) P306L possibly damaging Het
Slc9a8 C A 2: 167,457,344 (GRCm38) T239K probably benign Het
Snapc3 A G 4: 83,450,162 (GRCm38) I299V probably benign Het
Sp3 G A 2: 72,971,501 (GRCm38) A56V possibly damaging Het
Spag17 T A 3: 100,065,554 (GRCm38) S1361T probably benign Het
Sptbn2 A G 19: 4,737,926 (GRCm38) T978A probably benign Het
Stom C A 2: 35,321,632 (GRCm38) V126F probably damaging Het
Stpg2 A G 3: 139,218,321 (GRCm38) T162A probably damaging Het
Stxbp6 G A 12: 44,902,957 (GRCm38) T63M probably damaging Het
Tatdn1 A C 15: 58,921,350 (GRCm38) I69S probably benign Het
Tbata A T 10: 61,180,339 (GRCm38) D198V probably damaging Het
Tbc1d5 T C 17: 50,756,705 (GRCm38) I638V probably benign Het
Tomm70a A G 16: 57,149,903 (GRCm38) D548G probably benign Het
Ust A G 10: 8,245,936 (GRCm38) F303L probably damaging Het
Vps13d A G 4: 144,976,560 (GRCm38) S4306P probably benign Het
Zfp691 A G 4: 119,170,496 (GRCm38) S180P possibly damaging Het
Other mutations in Eed
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Eed APN 7 89,969,595 (GRCm38) missense possibly damaging 0.71
IGL02232:Eed APN 7 89,972,285 (GRCm38) missense probably damaging 1.00
IGL02740:Eed APN 7 89,972,256 (GRCm38) missense possibly damaging 0.91
R1018:Eed UTSW 7 89,967,811 (GRCm38) splice site probably benign
R1581:Eed UTSW 7 89,980,468 (GRCm38) missense possibly damaging 0.53
R3959:Eed UTSW 7 89,954,941 (GRCm38) missense probably benign 0.10
R4774:Eed UTSW 7 89,964,768 (GRCm38) missense probably damaging 1.00
R5021:Eed UTSW 7 89,972,305 (GRCm38) missense probably damaging 0.98
R5238:Eed UTSW 7 89,976,965 (GRCm38) missense probably benign
R5561:Eed UTSW 7 89,967,793 (GRCm38) missense probably damaging 1.00
R5959:Eed UTSW 7 89,969,627 (GRCm38) missense probably damaging 1.00
R6223:Eed UTSW 7 89,956,287 (GRCm38) missense probably damaging 1.00
R6391:Eed UTSW 7 89,976,941 (GRCm38) missense probably benign 0.00
R6502:Eed UTSW 7 89,977,029 (GRCm38) missense probably benign 0.00
R7021:Eed UTSW 7 89,980,519 (GRCm38) missense possibly damaging 0.53
R7054:Eed UTSW 7 89,964,727 (GRCm38) critical splice donor site probably null
R7056:Eed UTSW 7 89,970,356 (GRCm38) missense possibly damaging 0.54
R7808:Eed UTSW 7 89,956,333 (GRCm38) missense probably benign 0.04
R7836:Eed UTSW 7 89,980,814 (GRCm38) start gained probably benign
RF029:Eed UTSW 7 89,955,032 (GRCm38) missense probably benign
RF030:Eed UTSW 7 89,955,032 (GRCm38) missense probably benign
Z1177:Eed UTSW 7 89,980,515 (GRCm38) missense probably benign
Z1177:Eed UTSW 7 89,980,514 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- atccacctgcctctgcc -3'
Posted On 2013-05-23