Incidental Mutation 'IGL01936:Psmb8'
ID 180691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb8
Ensembl Gene ENSMUSG00000024338
Gene Name proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7)
Synonyms Lmp-7, Lmp7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01936
Quality Score
Status
Chromosome 17
Chromosomal Location 34417169-34420428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34419168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 154 (L154Q)
Ref Sequence ENSEMBL: ENSMUSP00000134664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025196] [ENSMUST00000025197] [ENSMUST00000041633] [ENSMUST00000131105] [ENSMUST00000138491] [ENSMUST00000173441] [ENSMUST00000170086]
AlphaFold P28063
Predicted Effect probably damaging
Transcript: ENSMUST00000025196
AA Change: L154Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025196
Gene: ENSMUSG00000024338
AA Change: L154Q

DomainStartEndE-ValueType
Pfam:Proteasome 69 251 1.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025197
SMART Domains Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
transmembrane domain 97 119 N/A INTRINSIC
Pfam:ABC_membrane 151 419 1.8e-62 PFAM
AAA 494 678 2.58e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041633
SMART Domains Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
Pfam:ABC_membrane 163 420 9.1e-55 PFAM
AAA 478 666 2.21e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127543
Predicted Effect probably benign
Transcript: ENSMUST00000131105
SMART Domains Protein: ENSMUSP00000118700
Gene: ENSMUSG00000024339

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166582
Predicted Effect probably damaging
Transcript: ENSMUST00000173441
AA Change: L154Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338
AA Change: L154Q

DomainStartEndE-ValueType
Pfam:Proteasome 69 248 6.3e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166853
Predicted Effect probably benign
Transcript: ENSMUST00000170086
SMART Domains Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
Pfam:ABC_membrane 163 434 5.8e-70 PFAM
AAA 506 694 2.21e-18 SMART
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. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However they have a reduced ability to process MHC class I restricted antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 90,009,282 (GRCm39) H127L probably benign Het
Adamtsl3 T C 7: 82,244,579 (GRCm39) V419A possibly damaging Het
Arhgap31 T A 16: 38,423,287 (GRCm39) L926F probably damaging Het
Asgr2 A T 11: 69,988,877 (GRCm39) probably null Het
C3ar1 T A 6: 122,828,194 (GRCm39) T8S probably benign Het
Caskin2 T C 11: 115,695,543 (GRCm39) I273V probably damaging Het
Ccnl2 T A 4: 155,904,856 (GRCm39) C242S probably damaging Het
Cdkn2a A T 4: 89,212,569 (GRCm39) probably null Het
Cfap45 T G 1: 172,361,616 (GRCm39) M231R probably damaging Het
Clcn7 A C 17: 25,374,350 (GRCm39) N464H probably benign Het
Col20a1 T A 2: 180,651,161 (GRCm39) probably benign Het
Col7a1 T A 9: 108,797,067 (GRCm39) probably benign Het
Cops7a T C 6: 124,939,379 (GRCm39) D90G probably benign Het
Ctcf T C 8: 106,396,864 (GRCm39) V363A probably benign Het
Cyp2j12 A G 4: 96,021,306 (GRCm39) V100A probably benign Het
Dcaf1 T A 9: 106,736,800 (GRCm39) F1085Y possibly damaging Het
Drc7 T A 8: 95,800,760 (GRCm39) F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,768,277 (GRCm39) E1009* probably null Het
Epg5 C A 18: 78,028,316 (GRCm39) R1286S probably damaging Het
Etv1 T C 12: 38,885,060 (GRCm39) probably benign Het
Exosc7 T C 9: 122,964,956 (GRCm39) probably benign Het
Fam227a T C 15: 79,496,747 (GRCm39) D610G possibly damaging Het
Fat4 T A 3: 39,033,923 (GRCm39) M2525K probably benign Het
Gimap5 G T 6: 48,729,999 (GRCm39) A190S probably damaging Het
Glcci1 T A 6: 8,579,596 (GRCm39) S79T probably damaging Het
Gpnmb C T 6: 49,024,384 (GRCm39) T233I probably null Het
Hdac1-ps T C 17: 78,799,558 (GRCm39) V183A probably damaging Het
Hyls1 T C 9: 35,473,363 (GRCm39) I18V probably benign Het
Ighv1-63 C T 12: 115,459,274 (GRCm39) E108K probably damaging Het
Ighv5-12 C A 12: 113,665,927 (GRCm39) R57L probably damaging Het
Igkv5-37 T C 6: 69,940,323 (GRCm39) Y107C probably damaging Het
Il20ra T A 10: 19,631,591 (GRCm39) V264D probably damaging Het
Jph1 A T 1: 17,167,608 (GRCm39) V74E probably damaging Het
Kcnab1 C T 3: 65,265,695 (GRCm39) L280F probably damaging Het
Kcnk1 T C 8: 126,751,826 (GRCm39) F144S probably damaging Het
Kcnq1 G A 7: 142,738,241 (GRCm39) E294K possibly damaging Het
Kdm4b T A 17: 56,704,355 (GRCm39) V813E probably damaging Het
Kntc1 T A 5: 123,949,439 (GRCm39) F1937I probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lgr5 T C 10: 115,288,319 (GRCm39) N703S probably damaging Het
Map4k1 A T 7: 28,688,032 (GRCm39) M227L possibly damaging Het
Mbnl1 T A 3: 60,520,940 (GRCm39) M268K possibly damaging Het
Mcm2 C A 6: 88,868,708 (GRCm39) G350C probably damaging Het
Myh2 A T 11: 67,082,599 (GRCm39) T1390S possibly damaging Het
Npat T A 9: 53,469,526 (GRCm39) probably benign Het
Nr2e1 T A 10: 42,443,969 (GRCm39) D251V possibly damaging Het
Or1x2 A G 11: 50,918,162 (GRCm39) N111S probably benign Het
Or4d10 C T 19: 12,051,421 (GRCm39) V192I probably benign Het
Or5b107 C A 19: 13,142,767 (GRCm39) P130T probably damaging Het
Plekha5 T A 6: 140,470,621 (GRCm39) H87Q probably damaging Het
Polr3a A G 14: 24,529,256 (GRCm39) V368A probably damaging Het
Rab40c A C 17: 26,103,644 (GRCm39) C140G probably damaging Het
Ranbp17 G A 11: 33,437,689 (GRCm39) T183I probably benign Het
Ruvbl2 T C 7: 45,078,122 (GRCm39) E117G probably damaging Het
Serpinb3b T A 1: 107,082,368 (GRCm39) M299L probably benign Het
Smpdl3a A G 10: 57,678,530 (GRCm39) H111R probably damaging Het
Sspo C A 6: 48,452,821 (GRCm39) P2843H probably damaging Het
Stk39 T C 2: 68,144,908 (GRCm39) T389A probably benign Het
Synrg T A 11: 83,910,531 (GRCm39) F1000Y probably benign Het
Thbs2 C T 17: 14,908,076 (GRCm39) S229N probably benign Het
Thsd1 G A 8: 22,742,247 (GRCm39) C305Y probably damaging Het
Ticrr C A 7: 79,344,297 (GRCm39) D1387E probably benign Het
Tmem145 G T 7: 25,010,816 (GRCm39) A383S probably damaging Het
Tmprss4 A G 9: 45,090,718 (GRCm39) V187A probably damaging Het
Unc13c T A 9: 73,600,524 (GRCm39) M1407L probably benign Het
Vps39 C T 2: 120,153,609 (GRCm39) G655D probably benign Het
Wwtr1 T C 3: 57,482,241 (GRCm39) probably benign Het
Xrn1 T C 9: 95,930,397 (GRCm39) S1535P probably damaging Het
Other mutations in Psmb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Psmb8 APN 17 34,419,703 (GRCm39) missense probably damaging 0.97
IGL01153:Psmb8 APN 17 34,420,215 (GRCm39) missense possibly damaging 0.82
IGL01307:Psmb8 APN 17 34,418,210 (GRCm39) missense probably benign
IGL01394:Psmb8 APN 17 34,419,703 (GRCm39) missense probably damaging 1.00
IGL01821:Psmb8 APN 17 34,417,517 (GRCm39) missense probably benign
IGL02118:Psmb8 APN 17 34,420,198 (GRCm39) missense probably damaging 0.98
IGL02708:Psmb8 APN 17 34,420,217 (GRCm39) missense probably benign 0.00
IGL02739:Psmb8 APN 17 34,419,728 (GRCm39) nonsense probably null
R1952:Psmb8 UTSW 17 34,419,884 (GRCm39) missense probably damaging 1.00
R2869:Psmb8 UTSW 17 34,419,144 (GRCm39) missense probably damaging 0.98
R2869:Psmb8 UTSW 17 34,419,144 (GRCm39) missense probably damaging 0.98
R2870:Psmb8 UTSW 17 34,419,144 (GRCm39) missense probably damaging 0.98
R2870:Psmb8 UTSW 17 34,419,144 (GRCm39) missense probably damaging 0.98
R2871:Psmb8 UTSW 17 34,419,144 (GRCm39) missense probably damaging 0.98
R2871:Psmb8 UTSW 17 34,419,144 (GRCm39) missense probably damaging 0.98
R2873:Psmb8 UTSW 17 34,419,144 (GRCm39) missense probably damaging 0.98
R2874:Psmb8 UTSW 17 34,419,144 (GRCm39) missense probably damaging 0.98
R5632:Psmb8 UTSW 17 34,420,214 (GRCm39) missense probably benign
R6395:Psmb8 UTSW 17 34,418,265 (GRCm39) missense possibly damaging 0.86
R6993:Psmb8 UTSW 17 34,418,617 (GRCm39) missense probably damaging 1.00
R7645:Psmb8 UTSW 17 34,419,186 (GRCm39) missense possibly damaging 0.76
R7672:Psmb8 UTSW 17 34,417,404 (GRCm39) missense probably benign 0.06
R8804:Psmb8 UTSW 17 34,419,225 (GRCm39) missense probably damaging 1.00
R9492:Psmb8 UTSW 17 34,417,435 (GRCm39) missense probably benign 0.00
Z1176:Psmb8 UTSW 17 34,419,830 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07