Incidental Mutation 'IGL02421:Psmb10'
ID 292693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb10
Ensembl Gene ENSMUSG00000031897
Gene Name proteasome (prosome, macropain) subunit, beta type 10
Synonyms Mecl-1, Mecl1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # IGL02421
Quality Score
Status
Chromosome 8
Chromosomal Location 106662360-106665024 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 106664124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034368] [ENSMUST00000034369] [ENSMUST00000038896]
AlphaFold O35955
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: ENSMUST00000212876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212595
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: 154,892,672 (GRCm39) F117S probably damaging Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Acacb A G 5: 114,361,939 (GRCm39) T1394A probably benign Het
Adam19 A G 11: 46,028,380 (GRCm39) N671S probably damaging Het
Akap13 A T 7: 75,367,554 (GRCm39) N1815I possibly damaging Het
Aloxe3 A G 11: 69,020,872 (GRCm39) D199G possibly damaging Het
Ap1g2 G A 14: 55,339,859 (GRCm39) A440V probably damaging Het
Bmt2 G T 6: 13,628,841 (GRCm39) Q281K probably damaging Het
Celsr3 T C 9: 108,717,662 (GRCm39) F2243L probably damaging Het
Cenpb G A 2: 131,021,601 (GRCm39) R66C probably damaging Het
Chl1 A T 6: 103,694,541 (GRCm39) H1121L probably damaging Het
Cpb1 T C 3: 20,306,148 (GRCm39) Y344C probably damaging Het
Cspg5 T A 9: 110,076,460 (GRCm39) probably benign Het
Dnah11 T C 12: 118,150,637 (GRCm39) N374D probably damaging Het
Dnah3 A G 7: 119,550,215 (GRCm39) V3368A possibly damaging Het
Eml4 T C 17: 83,785,321 (GRCm39) S829P probably benign Het
Got2-ps1 T C 5: 138,362,811 (GRCm39) noncoding transcript Het
Hal T C 10: 93,339,335 (GRCm39) C475R probably damaging Het
Mapkbp1 C T 2: 119,850,136 (GRCm39) P806S possibly damaging Het
Mmrn1 A T 6: 60,921,806 (GRCm39) T88S probably benign Het
Napsa A G 7: 44,234,479 (GRCm39) H237R probably damaging Het
Opn5 C T 17: 42,907,446 (GRCm39) probably benign Het
Or1d2 T C 11: 74,256,017 (GRCm39) I174T probably damaging Het
Or4c110 T C 2: 88,831,688 (GRCm39) probably null Het
Or51f2 T C 7: 102,526,966 (GRCm39) I213T probably damaging Het
Or56b2 A G 7: 104,337,740 (GRCm39) N173D probably benign Het
Pira12 T C 7: 3,899,994 (GRCm39) N203D possibly damaging Het
Polb C T 8: 23,130,389 (GRCm39) G179D probably damaging Het
Primpol G T 8: 47,060,830 (GRCm39) probably benign Het
Prom2 T A 2: 127,373,802 (GRCm39) probably null Het
Ranbp2 T G 10: 58,316,376 (GRCm39) S2365R probably damaging Het
Sgce G A 6: 4,694,187 (GRCm39) probably benign Het
Slc25a34 A G 4: 141,348,753 (GRCm39) V237A probably benign Het
Slc39a2 A T 14: 52,131,329 (GRCm39) T25S probably benign Het
Smarca4 T C 9: 21,550,535 (GRCm39) C423R probably damaging Het
Stt3b G A 9: 115,080,920 (GRCm39) probably benign Het
Tbl1xr1 A T 3: 22,257,327 (GRCm39) I397F probably damaging Het
Tie1 A G 4: 118,343,591 (GRCm39) V117A probably damaging Het
Tmc3 T C 7: 83,271,952 (GRCm39) F1035L probably benign Het
Trhde T A 10: 114,248,366 (GRCm39) K944N probably damaging Het
Vmn1r54 G A 6: 90,246,133 (GRCm39) A16T probably benign Het
Washc4 T A 10: 83,415,414 (GRCm39) N801K probably damaging Het
Xylt2 A G 11: 94,558,588 (GRCm39) Y523H possibly damaging Het
Znfx1 T C 2: 166,902,000 (GRCm39) R5G probably damaging Het
Other mutations in Psmb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Psmb10 APN 8 106,664,343 (GRCm39) missense probably damaging 1.00
IGL03118:Psmb10 APN 8 106,663,532 (GRCm39) missense probably damaging 1.00
R0506:Psmb10 UTSW 8 106,664,177 (GRCm39) missense possibly damaging 0.95
R2420:Psmb10 UTSW 8 106,663,934 (GRCm39) missense probably benign 0.20
R4496:Psmb10 UTSW 8 106,662,660 (GRCm39) missense probably damaging 0.98
R8421:Psmb10 UTSW 8 106,663,342 (GRCm39) missense probably benign 0.00
R9308:Psmb10 UTSW 8 106,662,662 (GRCm39) missense probably damaging 0.99
R9610:Psmb10 UTSW 8 106,664,144 (GRCm39) missense probably benign 0.14
R9611:Psmb10 UTSW 8 106,664,144 (GRCm39) missense probably benign 0.14
Posted On 2015-04-16