Incidental Mutation 'IGL01140:Psmb5'
ID 52729
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 # IGL01140
Quality Score
Status
Chromosome 14
Chromosomal Location 54851577-54855452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54855264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 62 (T62I)
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 possibly damaging
Transcript: ENSMUST00000022803
AA Change: T62I

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022803
Gene: ENSMUSG00000022193
AA Change: T62I

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 unknown
Transcript: ENSMUST00000227257
AA Change: T62I
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,672,726 (GRCm39) E187G probably damaging Het
Asap2 T C 12: 21,256,317 (GRCm39) V205A probably damaging Het
Atg16l1 A G 1: 87,702,575 (GRCm39) I279V probably benign Het
Atp2b2 C T 6: 113,766,932 (GRCm39) V436I possibly damaging Het
Cald1 T A 6: 34,739,196 (GRCm39) S640T possibly damaging Het
Cdc23 A G 18: 34,769,385 (GRCm39) Y460H probably benign Het
Cenpk T A 13: 104,372,742 (GRCm39) probably benign Het
Ctss A G 3: 95,446,036 (GRCm39) E52G probably damaging Het
Cuzd1 A T 7: 130,913,523 (GRCm39) C365S probably damaging Het
Cyp2c55 T C 19: 39,007,093 (GRCm39) L163P probably benign Het
Cyp4f37 T C 17: 32,848,027 (GRCm39) S182P probably benign Het
Flt4 G T 11: 49,525,770 (GRCm39) E740* probably null Het
Galntl6 T A 8: 58,411,356 (GRCm39) R291S probably damaging Het
Hydin G A 8: 111,124,694 (GRCm39) V568I probably benign Het
Ift70a1 A G 2: 75,810,259 (GRCm39) V608A probably benign Het
Kcnab3 A G 11: 69,220,705 (GRCm39) K145R probably benign Het
Lama1 T C 17: 68,109,928 (GRCm39) V2183A probably benign Het
Lrmda C T 14: 22,646,585 (GRCm39) A75V possibly damaging Het
Mbtd1 A G 11: 93,815,258 (GRCm39) E282G probably damaging Het
Muc19 A T 15: 91,783,593 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,859,693 (GRCm39) T1231A probably benign Het
Nkpd1 A G 7: 19,257,387 (GRCm39) T389A possibly damaging Het
Nudt19 A G 7: 35,247,336 (GRCm39) *358Q probably null Het
Nup160 G T 2: 90,530,909 (GRCm39) M522I possibly damaging Het
Obsl1 T A 1: 75,466,400 (GRCm39) probably benign Het
Or4m1 T A 14: 50,557,732 (GRCm39) I187F probably damaging Het
Or5ak24 T C 2: 85,260,484 (GRCm39) T230A probably benign Het
Or5b119 G A 19: 13,457,151 (GRCm39) T137I possibly damaging Het
Osbpl10 C T 9: 115,005,070 (GRCm39) P341S probably benign Het
Papola C A 12: 105,775,856 (GRCm39) C7* probably null Het
Pld1 C A 3: 28,132,386 (GRCm39) L525I probably benign Het
Prom2 T C 2: 127,373,125 (GRCm39) probably benign Het
Sag A G 1: 87,751,086 (GRCm39) E184G probably benign Het
Slc16a10 T C 10: 39,952,921 (GRCm39) Y191C probably damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Ssx2ip A G 3: 146,133,598 (GRCm39) Y231C probably benign Het
Trib1 A G 15: 59,523,476 (GRCm39) Y170C probably damaging Het
Trmt10a G A 3: 137,862,459 (GRCm39) probably benign Het
Troap G T 15: 98,980,027 (GRCm39) Q402H probably damaging Het
Vmn2r70 G A 7: 85,214,379 (GRCm39) Q258* probably null Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zmym1 A G 4: 126,943,435 (GRCm39) F318L probably damaging Het
Zswim2 A G 2: 83,745,672 (GRCm39) S589P probably benign Het
Other mutations in Psmb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02967:Psmb5 APN 14 54,854,083 (GRCm39) missense probably benign 0.11
IGL03095:Psmb5 APN 14 54,854,014 (GRCm39) missense probably damaging 1.00
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 2013-06-21