|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin-conjugating enzyme E2N|
|Is this an essential gene?||Not available|
|Stock #||R8031 (G1)|
|Chromosomal Location||95515145-95545657 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 95541382 bp (GRCm38)|
|Amino Acid Change||Arginine to Cysteine at position 70 (R70C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096932 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099329] [ENSMUST00000220127]|
AA Change: R70C
PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: R70C
|Meta Mutation Damage Score||0.6961|
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
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: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene causes early embryonic lethality. Mice heterozygous for a gene trap allele show increased resistance to LPS-induced lethality while cultured immune cells display blunted LPS-inducible cytokine secretion and impaired activation of TRAF-mediated signal transduction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ube2n||
(F):5'- TTGTAGGAAACCCAGCGTTTG -3'
(R):5'- GGCCCAGTATATGATAAAGCATG -3'
(F):5'- GCGTTTGCTGGCAGAAC -3'
(R):5'- ACACACTCTGGGGCTGTTAG -3'