Incidental Mutation 'IGL01790:Psmb3'
ID 155189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb3
Ensembl Gene ENSMUSG00000069744
Gene Name proteasome (prosome, macropain) subunit, beta type 3
Synonyms C10-II
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # IGL01790
Quality Score
Status
Chromosome 11
Chromosomal Location 97594260-97604326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97603336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 183 (M183K)
Ref Sequence ENSEMBL: ENSMUSP00000099436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018691] [ENSMUST00000103147]
AlphaFold Q9R1P1
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000018691
SMART Domains Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547

DomainStartEndE-ValueType
PIPKc 67 416 4.49e-156 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103147
AA Change: M183K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099436
Gene: ENSMUSG00000069744
AA Change: M183K

DomainStartEndE-ValueType
Pfam:Proteasome 5 190 1.8e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138265
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. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 T C 1: 158,407,897 (GRCm39) I618T possibly damaging Het
Bod1l T C 5: 41,989,593 (GRCm39) S377G probably benign Het
Disp2 A T 2: 118,621,361 (GRCm39) S698C probably damaging Het
Ehbp1l1 A G 19: 5,773,012 (GRCm39) V43A probably damaging Het
Eml5 G T 12: 98,765,191 (GRCm39) T1539K probably damaging Het
Fmnl2 T C 2: 53,008,380 (GRCm39) I824T probably damaging Het
Gpr75 T G 11: 30,841,132 (GRCm39) N12K probably damaging Het
Hap1 C T 11: 100,242,732 (GRCm39) probably null Het
Helz2 A C 2: 180,880,274 (GRCm39) Y481D probably benign Het
Klhl3 T C 13: 58,157,236 (GRCm39) probably null Het
Lrcol1 A G 5: 110,502,073 (GRCm39) S49G probably damaging Het
Magi3 A G 3: 103,992,560 (GRCm39) M304T probably damaging Het
Med13l T C 5: 118,731,587 (GRCm39) W88R probably damaging Het
Nfatc1 A G 18: 80,710,257 (GRCm39) V503A probably damaging Het
Ntm C A 9: 29,322,886 (GRCm39) V45L probably benign Het
Or4c100 A G 2: 88,356,767 (GRCm39) N280S probably damaging Het
Or4f60 T A 2: 111,902,266 (GRCm39) I221L probably benign Het
Or4p22 T A 2: 88,317,270 (GRCm39) S65T possibly damaging Het
Or5b116 A G 19: 13,422,526 (GRCm39) D50G probably damaging Het
Or7a40 T C 16: 16,490,967 (GRCm39) R293G probably damaging Het
Pias4 T C 10: 80,993,332 (GRCm39) Q197R probably damaging Het
Pkhd1 T A 1: 20,628,895 (GRCm39) H684L probably damaging Het
Prr5 A C 15: 84,651,415 (GRCm39) I288L possibly damaging Het
Rasal1 T C 5: 120,808,383 (GRCm39) F472L possibly damaging Het
Rpl3 A T 15: 79,964,061 (GRCm39) probably benign Het
Scin A T 12: 40,113,256 (GRCm39) D538E probably benign Het
Sdhb T C 4: 140,701,038 (GRCm39) S165P probably benign Het
Slc43a2 C A 11: 75,436,577 (GRCm39) probably null Het
Sparc C T 11: 55,298,041 (GRCm39) probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tcf25 A G 8: 124,119,975 (GRCm39) E382G possibly damaging Het
Tmx3 G A 18: 90,529,458 (GRCm39) probably null Het
Trim24 C T 6: 37,922,548 (GRCm39) P452S probably benign Het
Vsig10 T A 5: 117,476,379 (GRCm39) W278R probably damaging Het
Other mutations in Psmb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1944:Psmb3 UTSW 11 97,601,981 (GRCm39) missense probably benign
R1945:Psmb3 UTSW 11 97,601,981 (GRCm39) missense probably benign
R5661:Psmb3 UTSW 11 97,597,659 (GRCm39) missense possibly damaging 0.67
R5739:Psmb3 UTSW 11 97,604,296 (GRCm39) utr 3 prime probably benign
R6155:Psmb3 UTSW 11 97,603,278 (GRCm39) missense probably damaging 0.99
R6831:Psmb3 UTSW 11 97,597,728 (GRCm39) missense probably benign 0.00
R6931:Psmb3 UTSW 11 97,594,797 (GRCm39) missense probably benign 0.02
R7219:Psmb3 UTSW 11 97,602,023 (GRCm39) missense probably null 0.09
R7663:Psmb3 UTSW 11 97,603,318 (GRCm39) missense probably damaging 1.00
R7793:Psmb3 UTSW 11 97,603,265 (GRCm39) missense probably benign
R8130:Psmb3 UTSW 11 97,594,723 (GRCm39) missense probably benign 0.36
R8304:Psmb3 UTSW 11 97,601,995 (GRCm39) missense probably benign 0.03
Posted On 2014-02-04