|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin protein ligase E3B|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1764 (G1)|
|Chromosomal Location||114380607-114421169 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 114404617 bp (GRCm38)|
|Amino Acid Change||Leucine to Valine at position 512 (L512V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000073652 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074002] [ENSMUST00000130169]|
AA Change: L512V
PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: L512V
|Meta Mutation Damage Score||0.0985|
|Coding Region Coverage||
|Validation Efficiency||94% (94/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ube3b||
(F):5'- CAGTAACCGAGCCTCACTTAGCAG -3'
(R):5'- TTGATGTCCCCACCAAGTCCTAGC -3'
(F):5'- AGAGCATCTGTCCAGTGTCAG -3'
(R):5'- GGAACAGTCACAGAAGAGCATC -3'