|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) 26S subunit, non-ATPase, 1|
|Is this an essential gene?||Probably essential (E-score: 0.964)|
|Stock #||R5443 (G1)|
|Chromosomal Location||86064387-86139151 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 86090183 bp|
|Amino Acid Change||Arginine to Histidine at position 572 (R572H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027432 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027432] [ENSMUST00000139715]|
|Predicted Effect||probably damaging
AA Change: R572H
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: R572H
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1212|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
|MGI Phenotype||FUNCTION: In eukaryotic cells, most proteins in the cytosol and nucleus are degraded via the ubiquitin-proteasome pathway. The 26S proteasome is a self-compartmentalizing protease comprised of approximately 31 different subunits. It contains a barrel-shaped proteolytic core complex (the 20S proteasome), capped at one or both ends by 19S regulatory complexes, which recognize ubiquitinated proteins. Protein degradation by proteasomes is the source of most antigenic peptides presented on MHC class I molecules. This gene encodes a non-ATPase subunit of the 26S proteasome. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmd1||
(F):5'- CTTTACTACAGGGGAGGCAG -3'
(R):5'- CTCAAGTAAGTACAGAGAATGCCAATG -3'
(F):5'- CAGGGGAGGCAGCTGGC -3'
(R):5'- CCTTTAATCCTAGCAACTGGGAGG -3'