Incidental Mutation 'IGL02227:Psmb1'
ID 285585
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb1
Ensembl Gene ENSMUSG00000014769
Gene Name proteasome (prosome, macropain) subunit, beta type 1
Synonyms Lmpc5
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # IGL02227
Quality Score
Chromosome 17
Chromosomal Location 15475021-15499751 bp(-) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 15490284 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000156359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014913] [ENSMUST00000231341] [ENSMUST00000232500]
AlphaFold O09061
Predicted Effect probably benign
Transcript: ENSMUST00000014913
AA Change: M101K

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000014913
Gene: ENSMUSG00000014769
AA Change: M101K

Pfam:Proteasome 33 225 8.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231341
AA Change: M101K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably null
Transcript: ENSMUST00000232500
AA Change: M1K

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
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 tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,982,950 (GRCm38) N152D possibly damaging Het
Acsl1 A G 8: 46,534,365 (GRCm38) E662G probably benign Het
Acss3 A G 10: 107,045,335 (GRCm38) S262P probably benign Het
Agap1 T C 1: 89,663,775 (GRCm38) V263A probably damaging Het
Ap3b2 A G 7: 81,473,404 (GRCm38) L454P probably damaging Het
Arrdc1 A T 2: 24,926,152 (GRCm38) F280I possibly damaging Het
Atp8b1 G T 18: 64,562,190 (GRCm38) H485N probably benign Het
Atrip A G 9: 109,061,664 (GRCm38) S91P possibly damaging Het
Bcorl1 T C X: 48,369,360 (GRCm38) V590A probably benign Het
Brf1 C A 12: 112,961,774 (GRCm38) R590S probably damaging Het
Ccdc18 A T 5: 108,148,922 (GRCm38) D197V possibly damaging Het
Ccr6 T C 17: 8,256,452 (GRCm38) V163A probably damaging Het
Cct6b T C 11: 82,741,391 (GRCm38) E257G probably damaging Het
Cdc42bpa A G 1: 180,094,424 (GRCm38) D564G possibly damaging Het
Cdh2 C T 18: 16,629,586 (GRCm38) V434I probably benign Het
Cltc C T 11: 86,697,340 (GRCm38) V1610M possibly damaging Het
Cnot4 A G 6: 35,051,263 (GRCm38) F473L probably benign Het
Dock3 T C 9: 107,062,055 (GRCm38) K165E probably damaging Het
Duox2 A T 2: 122,285,153 (GRCm38) probably benign Het
Epha7 A G 4: 28,821,587 (GRCm38) S251G possibly damaging Het
Epn1 T A 7: 5,095,036 (GRCm38) V282E probably benign Het
Fat1 T C 8: 45,023,659 (GRCm38) L1914P probably damaging Het
Fbln2 T C 6: 91,256,367 (GRCm38) I611T possibly damaging Het
Fgd6 G T 10: 94,134,084 (GRCm38) M1198I probably damaging Het
Frmpd4 T A X: 167,492,935 (GRCm38) I379F probably damaging Het
Gm6614 A T 6: 141,993,675 (GRCm38) C197* probably null Het
Grk4 T A 5: 34,694,782 (GRCm38) D123E probably benign Het
Hc T G 2: 35,009,911 (GRCm38) probably benign Het
Hephl1 T C 9: 15,069,793 (GRCm38) Y781C probably damaging Het
Hfe T C 13: 23,706,943 (GRCm38) E71G probably benign Het
Hk1 A G 10: 62,281,140 (GRCm38) probably benign Het
Ifnk G A 4: 35,152,642 (GRCm38) probably benign Het
Kcnv1 C A 15: 45,114,274 (GRCm38) G123C probably damaging Het
Kdelc2 T C 9: 53,388,479 (GRCm38) L96S probably damaging Het
Klhl38 A T 15: 58,323,237 (GRCm38) I32N possibly damaging Het
Lpl T C 8: 68,895,800 (GRCm38) V227A probably damaging Het
Lurap1l A T 4: 80,953,857 (GRCm38) S196C probably damaging Het
Mta1 T C 12: 113,120,908 (GRCm38) L91P possibly damaging Het
Nelfe C A 17: 34,854,354 (GRCm38) D288E probably benign Het
Olfr491 T A 7: 108,317,201 (GRCm38) C102* probably null Het
Otof T C 5: 30,370,784 (GRCm38) E1905G probably damaging Het
Pck2 T C 14: 55,543,866 (GRCm38) I148T probably benign Het
Plcl2 G T 17: 50,606,397 (GRCm38) V145F probably damaging Het
Plec A G 15: 76,172,274 (GRCm38) S4510P probably damaging Het
Plxna2 A G 1: 194,752,089 (GRCm38) E641G probably damaging Het
Ppp1r12a C T 10: 108,269,324 (GRCm38) T434M probably damaging Het
Ppp6r3 A T 19: 3,518,245 (GRCm38) N184K possibly damaging Het
Prkar1a G A 11: 109,660,175 (GRCm38) probably benign Het
Pwwp2a T C 11: 43,705,621 (GRCm38) S538P possibly damaging Het
Rbm25 C T 12: 83,672,753 (GRCm38) R516W probably damaging Het
Rnf103 A G 6: 71,510,188 (GRCm38) D601G probably benign Het
Senp3 A G 11: 69,674,530 (GRCm38) V467A possibly damaging Het
Slc8a3 T G 12: 81,315,683 (GRCm38) T121P probably damaging Het
Srrt G A 5: 137,296,274 (GRCm38) T790M probably damaging Het
Ssc5d T C 7: 4,933,454 (GRCm38) probably null Het
Tas2r129 G A 6: 132,951,394 (GRCm38) W98* probably null Het
Thoc5 A C 11: 4,926,217 (GRCm38) M609L probably benign Het
Tnip1 G A 11: 54,936,471 (GRCm38) T155M possibly damaging Het
Ttn A G 2: 76,788,328 (GRCm38) V14458A probably benign Het
Unc5cl A G 17: 48,459,781 (GRCm38) E61G probably benign Het
Usp32 T C 11: 84,986,481 (GRCm38) K151E probably damaging Het
Vmn2r121 T C X: 124,132,681 (GRCm38) M260V probably benign Het
Vwa7 G T 17: 35,020,084 (GRCm38) R345L probably damaging Het
Zfp366 G T 13: 99,234,188 (GRCm38) R472L possibly damaging Het
Zfp811 A T 17: 32,798,642 (GRCm38) Y141* probably null Het
Zpbp C T 11: 11,415,248 (GRCm38) E200K probably benign Het
Other mutations in Psmb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0416:Psmb1 UTSW 17 15,494,519 (GRCm38) missense probably benign 0.00
R3908:Psmb1 UTSW 17 15,490,281 (GRCm38) missense probably damaging 1.00
R4946:Psmb1 UTSW 17 15,498,216 (GRCm38) missense probably benign 0.01
R4976:Psmb1 UTSW 17 15,498,262 (GRCm38) start codon destroyed probably null 0.99
R4979:Psmb1 UTSW 17 15,476,189 (GRCm38) missense probably benign 0.23
R5119:Psmb1 UTSW 17 15,498,262 (GRCm38) start codon destroyed probably null 0.99
R5506:Psmb1 UTSW 17 15,490,216 (GRCm38) missense probably damaging 1.00
R5939:Psmb1 UTSW 17 15,498,178 (GRCm38) missense probably damaging 1.00
R6848:Psmb1 UTSW 17 15,477,247 (GRCm38) missense probably benign 0.03
R7178:Psmb1 UTSW 17 15,477,259 (GRCm38) missense possibly damaging 0.50
R7701:Psmb1 UTSW 17 15,477,247 (GRCm38) missense probably benign 0.03
R7891:Psmb1 UTSW 17 15,494,486 (GRCm38) missense probably benign 0.01
R9369:Psmb1 UTSW 17 15,490,216 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16