|Institutional Source||Beutler Lab|
|Gene Name||embryonic ectoderm development|
|Is this an essential gene?||Probably essential (E-score: 0.965)|
|Stock #||R5021 (G1)|
|Chromosomal Location||89954654-89980983 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 89972305 bp (GRCm38)|
|Amino Acid Change||Leucine to Methionine at position 45 (L45M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000146812 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107234] [ENSMUST00000208977]|
AA Change: L96M
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: L96M
AA Change: L45M
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|Meta Mutation Damage Score||0.4551|
|Coding Region Coverage||
|Validation Efficiency||95% (39/41)|
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||
|Other mutations in Eed||
(F):5'- CTGTTAACCCAGTATCCAGAATTG -3'
(R):5'- CAGAAGTCAGTGTGTGCATG -3'
(F):5'- GCTTCCCACAGTTGCAAA -3'
(R):5'- GCTTTGGAAACCTCAAGGC -3'