|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin protein ligase E3 component n-recognin 1|
|Is this an essential gene?||Probably essential (E-score: 0.777)|
|Stock #||R4449 (G1)|
|Chromosomal Location||120860269-120970715 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 120946381 bp|
|Amino Acid Change||Valine to Alanine at position 293 (V293A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028728 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028728]|
|Predicted Effect||possibly damaging
AA Change: V293A
PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V293A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.086|
|Coding Region Coverage||
|Validation Efficiency||98% (47/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ubr1||
(F):5'- AGGCCTGGCAAAATATCTGTC -3'
(R):5'- TCTAGGAGCCTAAGTAGAAAAGCC -3'
(F):5'- GGCCTGGCAAAATATCTGTCTAAAG -3'
(R):5'- AAAGCCAAGTGAGGTTATTGTTGCC -3'