|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) 26S subunit, non-ATPase, 7|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7718 (G1)|
|Chromosomal Location||107580381-107588464 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 107586629 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 54 (F54L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041968 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044106]|
AA Change: F54L
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: F54L
|Meta Mutation Damage Score||0.9332|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice carrying a proviral insertion at this locus develop normally to the blastocyst stage but die shortly after implantation before reaching the egg cylinder stage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmd7||
(F):5'- TGAAATAGGAGCTTCAGACTGTAG -3'
(R):5'- TTCCTACGGGAACTAACCTGTTAC -3'
(F):5'- TACAACTCACTTTGTAGACCAGGCTG -3'
(R):5'- CGGGAACTAACCTGTTACATTTG -3'