Incidental Mutation 'R7616:Psmb7'
ID 588900
Institutional Source Beutler Lab
Gene Symbol Psmb7
Ensembl Gene ENSMUSG00000026750
Gene Name proteasome (prosome, macropain) subunit, beta type 7
Synonyms MC14
MMRRC Submission 045716-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7616 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 38478058-38533964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38523976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 133 (Y133C)
Ref Sequence ENSEMBL: ENSMUSP00000028083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028083]
AlphaFold P70195
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028083
AA Change: Y133C

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028083
Gene: ENSMUSG00000026750
AA Change: Y133C

DomainStartEndE-ValueType
Pfam:Proteasome 40 221 5.4e-52 PFAM
Pfam:Pr_beta_C 235 271 2e-19 PFAM
Meta Mutation Damage Score 0.9213 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A G 9: 55,896,738 (GRCm39) F290S probably benign Het
4931414P19Rik T C 14: 54,823,123 (GRCm39) D358G probably damaging Het
A630089N07Rik T A 16: 97,867,410 (GRCm39) Q184L probably damaging Het
Adam10 A G 9: 70,629,993 (GRCm39) R142G possibly damaging Het
Adgrb1 A G 15: 74,420,418 (GRCm39) T856A probably damaging Het
Angel1 A G 12: 86,764,510 (GRCm39) S493P probably benign Het
Arid1b C G 17: 5,045,661 (GRCm39) P150A unknown Het
Atp8b5 T A 4: 43,370,823 (GRCm39) probably null Het
Cbfa2t3 T G 8: 123,360,076 (GRCm39) Q525P possibly damaging Het
Clip4 T C 17: 72,141,268 (GRCm39) Y541H probably benign Het
Cracr2a C T 6: 127,585,660 (GRCm39) Q153* probably null Het
Dsp G T 13: 38,375,458 (GRCm39) C1081F probably damaging Het
Dysf A G 6: 84,078,945 (GRCm39) D708G probably benign Het
Eif3d A T 15: 77,845,886 (GRCm39) D378E probably damaging Het
Etv1 T A 12: 38,915,605 (GRCm39) M424K probably damaging Het
Fam120b T G 17: 15,623,098 (GRCm39) S359A possibly damaging Het
Ffar2 A G 7: 30,519,357 (GRCm39) L61P probably damaging Het
Grm5 A T 7: 87,765,409 (GRCm39) D879V probably benign Het
Itpr3 C A 17: 27,307,951 (GRCm39) A246E probably damaging Het
Kmt2b G T 7: 30,281,633 (GRCm39) P1207Q probably damaging Het
Mamdc2 T A 19: 23,328,168 (GRCm39) Y400F probably damaging Het
Mtcl3 T C 10: 29,022,574 (GRCm39) probably benign Het
Muc4 T A 16: 32,574,161 (GRCm39) Y746* probably null Het
Mylk T C 16: 34,699,927 (GRCm39) F430S probably damaging Het
Nek10 G A 14: 14,937,759 (GRCm38) C826Y probably benign Het
Nf1 T A 11: 79,275,092 (GRCm39) F51Y probably damaging Het
Or10ag55-ps1 T C 2: 87,115,617 (GRCm39) *328Q probably null Het
Phf2 T A 13: 48,961,083 (GRCm39) Y869F unknown Het
Ptcd2 G A 13: 99,481,207 (GRCm39) probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Slbp A T 5: 33,801,210 (GRCm39) I167N probably damaging Het
Slc2a2 A G 3: 28,781,260 (GRCm39) T433A probably benign Het
Snap91 T A 9: 86,721,674 (GRCm39) N55I probably damaging Het
Stat4 A T 1: 52,053,037 (GRCm39) K73* probably null Het
Sult2a5 G A 7: 13,404,607 (GRCm39) M281I probably benign Het
Tenm3 A T 8: 48,794,084 (GRCm39) M647K possibly damaging Het
Trim66 T A 7: 109,082,956 (GRCm39) D162V probably damaging Het
Vangl1 A T 3: 102,091,381 (GRCm39) I235N probably damaging Het
Vmn1r175 T A 7: 23,508,031 (GRCm39) I199F possibly damaging Het
Vmn1r72 A G 7: 11,404,272 (GRCm39) S59P probably damaging Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Zfand2a A T 5: 139,464,321 (GRCm39) N61K probably damaging Het
Other mutations in Psmb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
reclamation UTSW 2 38,523,976 (GRCm39) missense possibly damaging 0.94
R0029:Psmb7 UTSW 2 38,523,919 (GRCm39) missense probably damaging 0.96
R0102:Psmb7 UTSW 2 38,533,377 (GRCm39) missense possibly damaging 0.80
R0102:Psmb7 UTSW 2 38,533,377 (GRCm39) missense possibly damaging 0.80
R3822:Psmb7 UTSW 2 38,503,440 (GRCm39) splice site probably benign
R4064:Psmb7 UTSW 2 38,530,188 (GRCm39) missense probably damaging 0.98
R4108:Psmb7 UTSW 2 38,532,211 (GRCm39) missense probably damaging 0.99
R4787:Psmb7 UTSW 2 38,478,283 (GRCm39) missense probably benign 0.00
R5731:Psmb7 UTSW 2 38,478,289 (GRCm39) missense probably damaging 1.00
R6160:Psmb7 UTSW 2 38,533,393 (GRCm39) missense probably damaging 1.00
R6266:Psmb7 UTSW 2 38,530,199 (GRCm39) missense probably damaging 1.00
R8909:Psmb7 UTSW 2 38,503,481 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTTGCCTCCCTTAACAATAATGG -3'
(R):5'- TCATGTGGTAAGTATACTGCACAC -3'

Sequencing Primer
(F):5'- TGGAAACAGCTCTTCAAAAGATC -3'
(R):5'- TGCACACAGCTTACAGTAGC -3'
Posted On 2019-10-24