|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin protein ligase E3 component n-recognin 5|
|Synonyms||Edd, 4432411E13Rik, Edd1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5617 (G1)|
|Chromosomal Location||37967328-38078854 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 38030657 bp|
|Amino Acid Change||Serine to Glycine at position 425 (S425G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110336] [ENSMUST00000226414]|
|Predicted Effect||possibly damaging
AA Change: S425G
PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: S425G
|Predicted Effect||probably benign
AA Change: S431G
PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|Meta Mutation Damage Score||0.292|
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
|MGI Phenotype||Strain: 3052764
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, impaired growth of the allantois, failure or impairment of chorioallantoic fusion, impaired angiogenesis in the yolk sac and allantois, decreased cell proliferation, and increased apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ubr5||
(F):5'- TGAATTATACTATATGCCAGCCAGC -3'
(R):5'- AGTGAATCTGAGCCTTACAGAAATGC -3'
(F):5'- CAGCAAAGACTAAATGCAGATTACTG -3'
(R):5'- TGAGCCTTACAGAAATGCCCAGG -3'