Incidental Mutation 'IGL02421:Psmb10'
ID292693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb10
Ensembl Gene ENSMUSG00000031897
Gene Nameproteasome (prosome, macropain) subunit, beta type 10
SynonymsMecl-1, Mecl1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.392) question?
Stock #IGL02421
Quality Score
Status
Chromosome8
Chromosomal Location105935735-105938444 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 105937492 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034368] [ENSMUST00000034369] [ENSMUST00000038896]
PDB Structure
Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034368
SMART Domains Protein: ENSMUSP00000034368
Gene: ENSMUSG00000031896

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 33 257 1.41e-92 SMART
Predicted Effect probably null
Transcript: ENSMUST00000034369
SMART Domains Protein: ENSMUSP00000034369
Gene: ENSMUSG00000031897

DomainStartEndE-ValueType
Pfam:Proteasome 36 217 3.9e-49 PFAM
Pfam:Pr_beta_C 231 267 3.8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038896
SMART Domains Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:LCAT 81 414 1.7e-111 PFAM
low complexity region 425 437 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212938
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. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice have a reduced number of splenic CD8 T cells with defects in proliferation and an altered T cell receptor repertoire to viral antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 155,050,752 F117S probably damaging Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acacb A G 5: 114,223,878 T1394A probably benign Het
Adam19 A G 11: 46,137,553 N671S probably damaging Het
Akap13 A T 7: 75,717,806 N1815I possibly damaging Het
Aloxe3 A G 11: 69,130,046 D199G possibly damaging Het
Ap1g2 G A 14: 55,102,402 A440V probably damaging Het
Bmt2 G T 6: 13,628,842 Q281K probably damaging Het
Celsr3 T C 9: 108,840,463 F2243L probably damaging Het
Cenpb G A 2: 131,179,681 R66C probably damaging Het
Chl1 A T 6: 103,717,580 H1121L probably damaging Het
Cpb1 T C 3: 20,251,984 Y344C probably damaging Het
Cspg5 T A 9: 110,247,392 probably benign Het
Dnah11 T C 12: 118,186,902 N374D probably damaging Het
Dnah3 A G 7: 119,950,992 V3368A possibly damaging Het
Eml4 T C 17: 83,477,892 S829P probably benign Het
Gm14548 T C 7: 3,896,995 N203D possibly damaging Het
Got2-ps1 T C 5: 138,364,549 noncoding transcript Het
Hal T C 10: 93,503,473 C475R probably damaging Het
Mapkbp1 C T 2: 120,019,655 P806S possibly damaging Het
Mmrn1 A T 6: 60,944,822 T88S probably benign Het
Napsa A G 7: 44,585,055 H237R probably damaging Het
Olfr1215 T C 2: 89,001,344 probably null Het
Olfr412 T C 11: 74,365,191 I174T probably damaging Het
Olfr568 T C 7: 102,877,759 I213T probably damaging Het
Olfr661 A G 7: 104,688,533 N173D probably benign Het
Opn5 C T 17: 42,596,555 probably benign Het
Polb C T 8: 22,640,373 G179D probably damaging Het
Primpol G T 8: 46,607,795 probably benign Het
Prom2 T A 2: 127,531,882 probably null Het
Ranbp2 T G 10: 58,480,554 S2365R probably damaging Het
Sgce G A 6: 4,694,187 probably benign Het
Slc25a34 A G 4: 141,621,442 V237A probably benign Het
Slc39a2 A T 14: 51,893,872 T25S probably benign Het
Smarca4 T C 9: 21,639,239 C423R probably damaging Het
Stt3b G A 9: 115,251,852 probably benign Het
Tbl1xr1 A T 3: 22,203,163 I397F probably damaging Het
Tie1 A G 4: 118,486,394 V117A probably damaging Het
Tmc3 T C 7: 83,622,744 F1035L probably benign Het
Trhde T A 10: 114,412,461 K944N probably damaging Het
Vmn1r54 G A 6: 90,269,151 A16T probably benign Het
Washc4 T A 10: 83,579,550 N801K probably damaging Het
Xylt2 A G 11: 94,667,762 Y523H possibly damaging Het
Znfx1 T C 2: 167,060,080 R5G probably damaging Het
Other mutations in Psmb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Psmb10 APN 8 105937711 missense probably damaging 1.00
IGL03118:Psmb10 APN 8 105936900 missense probably damaging 1.00
R0506:Psmb10 UTSW 8 105937545 missense possibly damaging 0.95
R2420:Psmb10 UTSW 8 105937302 missense probably benign 0.20
R4496:Psmb10 UTSW 8 105936028 missense probably damaging 0.98
Posted On2015-04-16