|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin-conjugating enzyme E2D 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6562 (G1)|
|Chromosomal Location||71254980-71285262 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 71262241 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 16 (D16N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020085 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020085]|
|Predicted Effect||probably benign
AA Change: D16N
PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D16N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3244|
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
|MGI Phenotype||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. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ube2d1||
(F):5'- TGAGTTGTACTTACGGGCCC -3'
(R):5'- CTGCTTTATCCTTTCAGAGGCTGG -3'
(F):5'- TGTACTTACGGGCCCCATGATG -3'
(R):5'- AGGCTGGGGCTCTCTCATAAAG -3'