Incidental Mutation 'R5118:Psmb4'
ID 392725
Institutional Source Beutler Lab
Gene Symbol Psmb4
Ensembl Gene ENSMUSG00000005779
Gene Name proteasome (prosome, macropain) subunit, beta type 4
Synonyms Pros-27
MMRRC Submission 042706-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # R5118 (G1)
Quality Score 211
Status Validated
Chromosome 3
Chromosomal Location 94791635-94794269 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94792253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 223 (Y223C)
Ref Sequence ENSEMBL: ENSMUSP00000005923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005923] [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]
AlphaFold P99026
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 damaging
Transcript: ENSMUST00000005923
AA Change: Y223C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005923
Gene: ENSMUSG00000005779
AA Change: Y223C

DomainStartEndE-ValueType
Pfam:Proteasome 50 237 3.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042402
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 239 266 N/A INTRINSIC
low complexity region 328 335 N/A INTRINSIC
PDB:2E72|A 362 393 5e-16 PDB
low complexity region 401 436 N/A INTRINSIC
ZnF_C2H2 482 504 1.64e-1 SMART
ZnF_C2H2 518 541 5.34e0 SMART
ZnF_C2H2 548 571 4.79e-3 SMART
ZnF_C2H2 578 601 9.3e-1 SMART
ZnF_C2H2 607 629 3.34e-2 SMART
ZnF_C2H2 635 657 1.13e1 SMART
ZnF_C2H2 758 781 9.46e0 SMART
ZnF_C2H2 802 827 5.26e1 SMART
low complexity region 896 915 N/A INTRINSIC
low complexity region 946 955 N/A INTRINSIC
low complexity region 984 996 N/A INTRINSIC
CENPB 1008 1072 3.84e-15 SMART
Pfam:DDE_1 1104 1289 3.3e-22 PFAM
low complexity region 1355 1365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107266
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
low complexity region 186 213 N/A INTRINSIC
low complexity region 284 291 N/A INTRINSIC
PDB:2E72|A 318 349 6e-16 PDB
low complexity region 357 392 N/A INTRINSIC
ZnF_C2H2 438 460 1.64e-1 SMART
ZnF_C2H2 474 497 5.34e0 SMART
ZnF_C2H2 504 527 4.79e-3 SMART
ZnF_C2H2 534 557 9.3e-1 SMART
ZnF_C2H2 563 585 3.34e-2 SMART
ZnF_C2H2 591 613 1.13e1 SMART
ZnF_C2H2 714 737 9.46e0 SMART
ZnF_C2H2 758 783 5.26e1 SMART
low complexity region 852 871 N/A INTRINSIC
low complexity region 902 911 N/A INTRINSIC
low complexity region 940 952 N/A INTRINSIC
CENPB 964 1028 3.84e-15 SMART
Pfam:DDE_1 1060 1245 1.1e-22 PFAM
low complexity region 1311 1321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107269
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 144 171 N/A INTRINSIC
low complexity region 242 249 N/A INTRINSIC
PDB:2E72|A 276 307 5e-16 PDB
low complexity region 315 350 N/A INTRINSIC
ZnF_C2H2 396 418 1.64e-1 SMART
ZnF_C2H2 432 455 5.34e0 SMART
ZnF_C2H2 462 485 4.79e-3 SMART
ZnF_C2H2 492 515 9.3e-1 SMART
ZnF_C2H2 521 543 3.34e-2 SMART
ZnF_C2H2 549 571 1.13e1 SMART
ZnF_C2H2 672 695 9.46e0 SMART
ZnF_C2H2 716 741 5.26e1 SMART
low complexity region 810 829 N/A INTRINSIC
low complexity region 860 869 N/A INTRINSIC
low complexity region 898 910 N/A INTRINSIC
CENPB 922 986 3.84e-15 SMART
Pfam:DDE_1 1018 1203 1.1e-22 PFAM
low complexity region 1269 1279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107270
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 239 266 N/A INTRINSIC
low complexity region 337 344 N/A INTRINSIC
PDB:2E72|A 371 402 5e-16 PDB
low complexity region 410 445 N/A INTRINSIC
ZnF_C2H2 491 513 1.64e-1 SMART
ZnF_C2H2 527 550 5.34e0 SMART
ZnF_C2H2 557 580 4.79e-3 SMART
ZnF_C2H2 587 610 9.3e-1 SMART
ZnF_C2H2 616 638 3.34e-2 SMART
ZnF_C2H2 644 666 1.13e1 SMART
ZnF_C2H2 767 790 9.46e0 SMART
ZnF_C2H2 811 836 5.26e1 SMART
low complexity region 905 924 N/A INTRINSIC
low complexity region 955 964 N/A INTRINSIC
low complexity region 993 1005 N/A INTRINSIC
CENPB 1017 1081 3.84e-15 SMART
Pfam:DDE_1 1150 1298 1.5e-18 PFAM
low complexity region 1364 1374 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134133
Meta Mutation Damage Score 0.9635 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 96% (52/54)
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Adamts2 A G 11: 50,672,696 (GRCm39) E648G probably damaging Het
Ankrd55 A G 13: 112,492,473 (GRCm39) S187G probably benign Het
Cd44 C A 2: 102,695,715 (GRCm39) E52D probably damaging Het
Col6a5 T A 9: 105,814,204 (GRCm39) I603F unknown Het
Dmxl2 C A 9: 54,368,271 (GRCm39) R233L probably damaging Het
Dop1a T C 9: 86,388,312 (GRCm39) F429L probably damaging Het
Epsti1 T G 14: 78,224,122 (GRCm39) probably null Het
Erfe G T 1: 91,298,438 (GRCm39) probably null Het
Galnt5 A G 2: 57,905,015 (GRCm39) D526G probably damaging Het
Gatd1 A T 7: 140,986,719 (GRCm39) probably benign Het
Gm1330 T C 2: 148,844,906 (GRCm39) probably benign Het
Gm6181 G A 7: 52,405,364 (GRCm39) noncoding transcript Het
Irak2 T A 6: 113,642,772 (GRCm39) V68D probably benign Het
Kdm1a A G 4: 136,284,669 (GRCm39) probably benign Het
Kidins220 C A 12: 25,042,296 (GRCm39) Q198K probably damaging Het
Lgr5 A G 10: 115,288,244 (GRCm39) V728A possibly damaging Het
Micall2 G A 5: 139,702,202 (GRCm39) T347M probably damaging Het
Mrap2 T C 9: 87,064,756 (GRCm39) F166L possibly damaging Het
Msh3 A T 13: 92,445,942 (GRCm39) probably benign Het
Mul1 T A 4: 138,166,660 (GRCm39) L238Q probably damaging Het
Nuak1 G T 10: 84,210,848 (GRCm39) H413Q probably benign Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Pcnt C T 10: 76,248,002 (GRCm39) A931T probably damaging Het
Pramel20 T C 4: 143,297,697 (GRCm39) L39P probably damaging Het
Pramel34 T A 5: 93,785,656 (GRCm39) D208V probably benign Het
Rbm15b G T 9: 106,763,301 (GRCm39) A289E possibly damaging Het
Reg3b T A 6: 78,349,111 (GRCm39) V79E probably damaging Het
Rsl1 A G 13: 67,330,045 (GRCm39) I164M probably damaging Het
Rtp1 T C 16: 23,250,285 (GRCm39) F217L probably benign Het
Sfmbt1 T C 14: 30,512,727 (GRCm39) L360P probably damaging Het
Sorbs2 T C 8: 46,248,822 (GRCm39) V611A probably damaging Het
Tenm4 T A 7: 96,542,293 (GRCm39) D1935E probably damaging Het
Tep1 T C 14: 51,093,044 (GRCm39) probably null Het
Tmppe T G 9: 114,234,549 (GRCm39) S283A probably benign Het
Tmtc1 A G 6: 148,171,485 (GRCm39) probably benign Het
Trp63 T C 16: 25,707,760 (GRCm39) I552T unknown Het
Tspan2 C A 3: 102,657,151 (GRCm39) D45E probably benign Het
Tut4 T A 4: 108,377,489 (GRCm39) D966E possibly damaging Het
Ubr1 T C 2: 120,712,745 (GRCm39) E1396G probably benign Het
Usp17lc A T 7: 103,067,868 (GRCm39) T388S probably benign Het
Wdr46 T C 17: 34,167,811 (GRCm39) V508A possibly damaging Het
Zfp462 T A 4: 55,010,667 (GRCm39) Y878N probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp954 T A 7: 7,118,714 (GRCm39) T277S probably benign Het
Other mutations in Psmb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Psmb4 APN 3 94,793,538 (GRCm39) splice site probably null
R0322:Psmb4 UTSW 3 94,793,402 (GRCm39) missense probably benign 0.05
R0581:Psmb4 UTSW 3 94,793,479 (GRCm39) missense probably damaging 0.99
R0646:Psmb4 UTSW 3 94,792,275 (GRCm39) missense probably benign 0.34
R2316:Psmb4 UTSW 3 94,792,322 (GRCm39) missense probably benign 0.06
R4505:Psmb4 UTSW 3 94,793,456 (GRCm39) missense probably damaging 1.00
R8694:Psmb4 UTSW 3 94,793,435 (GRCm39) missense probably benign 0.02
R8695:Psmb4 UTSW 3 94,793,435 (GRCm39) missense probably benign 0.02
R9622:Psmb4 UTSW 3 94,792,285 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCCTTTTCAGTCACAGTGGC -3'
(R):5'- AAACTCATCCACTTTGGTGCCTG -3'

Sequencing Primer
(F):5'- CAGTCACAGTGGCAATTTGAAACTG -3'
(R):5'- CCACTTTGGTGCCTGTTTACATGG -3'
Posted On 2016-06-15