Incidental Mutation 'R4064:Psmb7'
ID 315998
Institutional Source Beutler Lab
Gene Symbol Psmb7
Ensembl Gene ENSMUSG00000026750
Gene Name proteasome (prosome, macropain) subunit, beta type 7
Synonyms MC14
MMRRC Submission 041620-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R4064 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 38478058-38533964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38530188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 98 (T98A)
Ref Sequence ENSEMBL: ENSMUSP00000028083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028083]
AlphaFold P70195
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028083
AA Change: T98A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028083
Gene: ENSMUSG00000026750
AA Change: T98A

DomainStartEndE-ValueType
Pfam:Proteasome 40 221 5.4e-52 PFAM
Pfam:Pr_beta_C 235 271 2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175060
Meta Mutation Damage Score 0.2921 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (44/44)
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. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T G 19: 43,793,432 (GRCm39) Y361* probably null Het
Afmid A G 11: 117,727,354 (GRCm39) T293A probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Axl C A 7: 25,463,445 (GRCm39) V602L probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Duoxa2 G T 2: 122,131,058 (GRCm39) S73I probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etfdh T C 3: 79,513,098 (GRCm39) E435G possibly damaging Het
Fbxo15 C T 18: 84,977,243 (GRCm39) R52C probably damaging Het
Fosb G T 7: 19,039,117 (GRCm39) C186* probably null Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Mphosph9 A T 5: 124,428,980 (GRCm39) F683I probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Nhlh2 A G 3: 101,920,052 (GRCm39) D28G probably benign Het
Or1e16 A T 11: 73,286,348 (GRCm39) S167T probably benign Het
Or5w17 A G 2: 87,584,133 (GRCm39) F68S probably damaging Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Parp4 A G 14: 56,861,597 (GRCm39) S977G probably benign Het
Pus10 A G 11: 23,678,983 (GRCm39) K485R probably damaging Het
Rab11fip3 T C 17: 26,243,368 (GRCm39) D588G probably damaging Het
Rgl2 T A 17: 34,156,082 (GRCm39) D723E possibly damaging Het
Rp1 A T 1: 4,415,623 (GRCm39) S1830T probably benign Het
Rreb1 T C 13: 38,114,293 (GRCm39) S551P probably benign Het
Serpinb7 A T 1: 107,373,766 (GRCm39) E127D probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc26a9 T C 1: 131,690,925 (GRCm39) Y568H probably benign Het
Tars3 G A 7: 65,302,018 (GRCm39) A181T possibly damaging Het
Tbc1d2b T A 9: 90,100,975 (GRCm39) K672* probably null Het
Tmem59l T C 8: 70,938,369 (GRCm39) T168A probably damaging Het
Tshz2 A G 2: 169,804,245 (GRCm39) probably benign Het
Vmn1r9 T C 6: 57,048,306 (GRCm39) F127S probably damaging Het
Zfp282 G A 6: 47,857,028 (GRCm39) R87H probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zscan22 C T 7: 12,640,941 (GRCm39) T395I probably damaging Het
Other mutations in Psmb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
reclamation UTSW 2 38,523,976 (GRCm39) missense possibly damaging 0.94
R0029:Psmb7 UTSW 2 38,523,919 (GRCm39) missense probably damaging 0.96
R0102:Psmb7 UTSW 2 38,533,377 (GRCm39) missense possibly damaging 0.80
R0102:Psmb7 UTSW 2 38,533,377 (GRCm39) missense possibly damaging 0.80
R3822:Psmb7 UTSW 2 38,503,440 (GRCm39) splice site probably benign
R4108:Psmb7 UTSW 2 38,532,211 (GRCm39) missense probably damaging 0.99
R4787:Psmb7 UTSW 2 38,478,283 (GRCm39) missense probably benign 0.00
R5731:Psmb7 UTSW 2 38,478,289 (GRCm39) missense probably damaging 1.00
R6160:Psmb7 UTSW 2 38,533,393 (GRCm39) missense probably damaging 1.00
R6266:Psmb7 UTSW 2 38,530,199 (GRCm39) missense probably damaging 1.00
R7616:Psmb7 UTSW 2 38,523,976 (GRCm39) missense possibly damaging 0.94
R8909:Psmb7 UTSW 2 38,503,481 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCAGAGCAAATCATCCCCATG -3'
(R):5'- TACGGTTAAGGCTGGTTAGAC -3'

Sequencing Primer
(F):5'- CCTAGTTTCCAGGCATCTTCATG -3'
(R):5'- GGCTGGTTAGACAGAAATTTCATTGC -3'
Posted On 2015-05-15