|Institutional Source||Beutler Lab|
|Gene Name||cullin associated and neddylation disassociated 1|
|Synonyms||D10Ertd516e, 2310038O07Rik, 6330512O03Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1589 (G1)|
|Chromosomal Location||119199255-119240055 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 119213566 bp|
|Amino Acid Change||Leucine to Proline at position 425 (L425P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020315 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020315] [ENSMUST00000126373]|
|Predicted Effect||probably damaging
AA Change: L425P
PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: L425P
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||97% (89/92)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cand1||
(F):5'- AGCAAAGACTCCTCAGGCTTCCTC -3'
(R):5'- TACAAGACTGTCTCTCCTGCGCTG -3'
(F):5'- AGGCTTCCTCATGGTTCTACTAAG -3'
(R):5'- CTGCGCTGATAGCCAGATTTAAAG -3'