Incidental Mutation 'IGL03095:Psmb5'
ID 418543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb5
Ensembl Gene ENSMUSG00000022193
Gene Name proteasome (prosome, macropain) subunit, beta type 5
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL03095
Quality Score
Status
Chromosome 14
Chromosomal Location 54851577-54855452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54854014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 155 (S155P)
Ref Sequence ENSEMBL: ENSMUSP00000022803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022803] [ENSMUST00000227257] [ENSMUST00000228446]
AlphaFold O55234
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000022803
AA Change: S155P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022803
Gene: ENSMUSG00000022193
AA Change: S155P

DomainStartEndE-ValueType
low complexity region 17 42 N/A INTRINSIC
Pfam:Proteasome 56 238 8.3e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102174
Predicted Effect probably benign
Transcript: ENSMUST00000227257
Predicted Effect probably benign
Transcript: ENSMUST00000228446
Coding Region Coverage
Validation Efficiency
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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bche A G 3: 73,609,216 (GRCm39) L70P probably damaging Het
Cacna1h C A 17: 25,602,752 (GRCm39) probably benign Het
Ccdc60 A T 5: 116,284,274 (GRCm39) probably benign Het
Cep152 T C 2: 125,460,371 (GRCm39) N194D probably benign Het
Chodl T A 16: 78,738,321 (GRCm39) D96E probably damaging Het
Clca3b C A 3: 144,552,671 (GRCm39) G122* probably null Het
Crybg1 T C 10: 43,865,245 (GRCm39) I1411V probably damaging Het
Dock9 A C 14: 121,876,940 (GRCm39) V477G probably damaging Het
Fam149a T A 8: 45,794,265 (GRCm39) E632D probably damaging Het
Gabra4 A G 5: 71,781,358 (GRCm39) V351A probably damaging Het
Gen1 T A 12: 11,298,265 (GRCm39) I319L probably benign Het
Gne C A 4: 44,055,211 (GRCm39) D255Y probably damaging Het
Gpr146 A G 5: 139,378,705 (GRCm39) H169R probably benign Het
Htatip2 A G 7: 49,409,522 (GRCm39) E92G probably benign Het
Ipcef1 A G 10: 6,869,732 (GRCm39) S223P probably damaging Het
Kcnmb2 T A 3: 32,252,276 (GRCm39) *37R probably null Het
Lin54 A T 5: 100,602,337 (GRCm39) V400E probably damaging Het
Ltbp1 C A 17: 75,589,413 (GRCm39) Q511K possibly damaging Het
Lyg1 A G 1: 37,989,849 (GRCm39) probably benign Het
Nampt T A 12: 32,892,685 (GRCm39) V324D possibly damaging Het
Nat8b-ps T G 6: 85,909,950 (GRCm39) probably benign Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Nfkb1 T C 3: 135,324,591 (GRCm39) E179G possibly damaging Het
Nlrc5 T A 8: 95,248,536 (GRCm39) probably benign Het
Or12d2 T A 17: 37,624,664 (GRCm39) I204F probably benign Het
Or8k38 A T 2: 86,488,775 (GRCm39) L9Q possibly damaging Het
Pcdh15 G A 10: 74,191,706 (GRCm39) V601M probably damaging Het
Pigc G A 1: 161,798,345 (GRCm39) R109Q possibly damaging Het
Plxna2 A G 1: 194,483,435 (GRCm39) N1582S probably damaging Het
Pros1 C T 16: 62,728,132 (GRCm39) Q279* probably null Het
Rock2 T A 12: 17,003,341 (GRCm39) D393E probably benign Het
Slc25a21 T C 12: 56,785,410 (GRCm39) T156A probably benign Het
Slc44a1 T A 4: 53,536,374 (GRCm39) Y183* probably null Het
Sytl2 C T 7: 90,041,642 (GRCm39) P580L probably damaging Het
Tktl2 G T 8: 66,964,936 (GRCm39) V165F probably damaging Het
Trim55 A G 3: 19,728,629 (GRCm39) E480G probably benign Het
Vmn2r92 T A 17: 18,386,972 (GRCm39) S104T possibly damaging Het
Vps51 C T 19: 6,120,078 (GRCm39) R490H probably damaging Het
Wdr43 G A 17: 71,948,282 (GRCm39) V391I probably benign Het
Zranb1 T G 7: 132,551,635 (GRCm39) Y121* probably null Het
Other mutations in Psmb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Psmb5 APN 14 54,855,264 (GRCm39) missense possibly damaging 0.85
IGL02967:Psmb5 APN 14 54,854,083 (GRCm39) missense probably benign 0.11
R2447:Psmb5 UTSW 14 54,851,927 (GRCm39) missense probably damaging 0.97
R5651:Psmb5 UTSW 14 54,854,221 (GRCm39) missense possibly damaging 0.64
R6346:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6372:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6657:Psmb5 UTSW 14 54,851,840 (GRCm39) missense possibly damaging 0.61
R6687:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6688:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6752:Psmb5 UTSW 14 54,854,212 (GRCm39) missense probably benign 0.00
R7007:Psmb5 UTSW 14 54,854,166 (GRCm39) missense probably damaging 0.99
R7801:Psmb5 UTSW 14 54,854,212 (GRCm39) missense probably benign 0.00
R8066:Psmb5 UTSW 14 54,851,698 (GRCm39) missense probably benign 0.00
R8278:Psmb5 UTSW 14 54,855,342 (GRCm39) missense probably benign 0.13
R8497:Psmb5 UTSW 14 54,851,837 (GRCm39) missense possibly damaging 0.95
R8728:Psmb5 UTSW 14 54,855,261 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02