Incidental Mutation 'R8052:Psmd8'
ID 619111
Institutional Source Beutler Lab
Gene Symbol Psmd8
Ensembl Gene ENSMUSG00000030591
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 8
Synonyms C76433, 6720456J22Rik
MMRRC Submission 067489-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R8052 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 28873612-28880098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28880001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 24 (K24E)
Ref Sequence ENSEMBL: ENSMUSP00000051657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000059642] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143] [ENSMUST00000182328] [ENSMUST00000186182] [ENSMUST00000209034]
AlphaFold Q9CX56
Predicted Effect probably benign
Transcript: ENSMUST00000047846
SMART Domains Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 1 920 N/A PFAM
transmembrane domain 1012 1034 N/A INTRINSIC
low complexity region 1058 1073 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000059642
AA Change: K24E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051657
Gene: ENSMUSG00000030591
AA Change: K24E

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
low complexity region 60 82 N/A INTRINSIC
low complexity region 117 129 N/A INTRINSIC
Pfam:CSN8_PSD8_EIF3K 189 330 1.2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163782
SMART Domains Protein: ENSMUSP00000127409
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 1 93 1.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164653
SMART Domains Protein: ENSMUSP00000131827
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 1 111 1.4e-44 PFAM
Pfam:CATSPERG 108 334 8.5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169143
SMART Domains Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 2 973 N/A PFAM
transmembrane domain 1065 1087 N/A INTRINSIC
low complexity region 1111 1126 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182328
SMART Domains Protein: ENSMUSP00000138613
Gene: ENSMUSG00000030591

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:SAC3_GANP 49 232 1.2e-37 PFAM
Pfam:PCI_Csn8 125 266 4.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186182
AA Change: K24E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139514
Gene: ENSMUSG00000030591
AA Change: K24E

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
low complexity region 60 82 N/A INTRINSIC
Pfam:SAC3_GANP 113 296 1.3e-37 PFAM
Pfam:PCI_Csn8 189 330 2.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209034
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,843,555 (GRCm39) T297A probably benign Het
Acadl G T 1: 66,892,337 (GRCm39) T162K probably benign Het
Aldoart2 A T 12: 55,612,536 (GRCm39) I154F probably damaging Het
Alkbh8 G A 9: 3,385,478 (GRCm39) R625H probably damaging Het
Ankrd31 T A 13: 96,969,036 (GRCm39) V891E probably benign Het
Aopep G A 13: 63,216,065 (GRCm39) V446I probably damaging Het
Atp8b5 C T 4: 43,356,982 (GRCm39) R577* probably null Het
Capn3 G T 2: 120,316,867 (GRCm39) E285D probably benign Het
Cd79b G T 11: 106,204,526 (GRCm39) P87T probably damaging Het
Celsr2 T G 3: 108,319,971 (GRCm39) D947A probably damaging Het
Csmd3 A C 15: 47,569,783 (GRCm39) S1213R Het
Cyp2j5 T C 4: 96,552,241 (GRCm39) M3V probably benign Het
Ddi1 C T 9: 6,265,787 (GRCm39) R194K probably benign Het
Decr1 T C 4: 15,933,019 (GRCm39) K49R probably benign Het
Dnah10 A C 5: 124,905,575 (GRCm39) E4130A probably benign Het
Dst A G 1: 34,323,444 (GRCm39) D4648G probably damaging Het
Ecd A G 14: 20,380,020 (GRCm39) probably null Het
Erbin A T 13: 103,970,864 (GRCm39) Y917* probably null Het
Evpl T C 11: 116,113,989 (GRCm39) K1234E probably benign Het
F11r T A 1: 171,289,191 (GRCm39) Y218N possibly damaging Het
Fam43a C G 16: 30,420,622 (GRCm39) T402S probably benign Het
Frem2 T C 3: 53,457,064 (GRCm39) N2096S probably benign Het
Gpd2 T A 2: 57,196,962 (GRCm39) Y172* probably null Het
Hscb A G 5: 110,983,844 (GRCm39) V90A probably benign Het
Iqgap2 T C 13: 95,794,387 (GRCm39) D1195G probably damaging Het
Map2k2 T C 10: 80,950,900 (GRCm39) I115T probably damaging Het
Mast2 C T 4: 116,170,172 (GRCm39) R707H probably damaging Het
Mindy4 A G 6: 55,277,977 (GRCm39) N607S probably damaging Het
Mrpl9 T A 3: 94,351,050 (GRCm39) Y77N probably damaging Het
Muc16 G A 9: 18,570,347 (GRCm39) T724I unknown Het
Nat3 A T 8: 68,000,478 (GRCm39) Y119F possibly damaging Het
Nol7 T C 13: 43,554,990 (GRCm39) S208P probably damaging Het
Notch3 A T 17: 32,365,545 (GRCm39) C1056S probably damaging Het
Nup50l TCC TCCGCC 6: 96,142,078 (GRCm39) probably benign Het
Nup50l TCC TCCCCC 6: 96,142,084 (GRCm39) probably benign Het
Or13j1 A T 4: 43,705,884 (GRCm39) V228E probably damaging Het
Or3a4 T A 11: 73,945,301 (GRCm39) I95F probably benign Het
Or5al5 A T 2: 85,961,721 (GRCm39) Y95* probably null Het
Or8g17 G T 9: 38,930,783 (GRCm39) T18K probably damaging Het
Osbpl3 A C 6: 50,322,995 (GRCm39) L288R probably damaging Het
Oscp1 A C 4: 125,982,116 (GRCm39) D352A possibly damaging Het
Pcdh9 G A 14: 94,123,222 (GRCm39) R983C probably benign Het
Pcdhgb8 T C 18: 37,896,555 (GRCm39) S542P probably benign Het
Pi4ka T C 16: 17,174,030 (GRCm39) T490A Het
Pkd1l1 A T 11: 8,897,315 (GRCm39) D531E Het
Potefam3d A T 8: 69,975,404 (GRCm39) Y21N possibly damaging Het
Prr3 G T 17: 36,290,053 (GRCm39) D26E possibly damaging Het
Rasgrp4 G A 7: 28,849,362 (GRCm39) C583Y probably damaging Het
Rest A G 5: 77,416,171 (GRCm39) I128M probably benign Het
Rftn1 A T 17: 50,393,607 (GRCm39) F144I probably damaging Het
Rusc2 T C 4: 43,421,851 (GRCm39) F757S probably benign Het
Ryr1 A G 7: 28,782,810 (GRCm39) S1942P probably benign Het
Sdk2 C T 11: 113,745,177 (GRCm39) R706Q probably damaging Het
Sergef G T 7: 46,264,062 (GRCm39) T275K probably damaging Het
Serpina10 T C 12: 103,594,569 (GRCm39) T217A probably damaging Het
Shd G C 17: 56,283,235 (GRCm39) S288T probably damaging Het
Siglec15 C A 18: 78,091,803 (GRCm39) A133S possibly damaging Het
Stat4 C T 1: 52,118,932 (GRCm39) P325L probably damaging Het
Syt8 G A 7: 141,993,881 (GRCm39) G344D probably damaging Het
Tes A G 6: 17,097,291 (GRCm39) E133G probably benign Het
Tmprss2 T C 16: 97,369,616 (GRCm39) Y386C probably damaging Het
Tnfrsf11b A T 15: 54,115,502 (GRCm39) L365Q probably damaging Het
Tns1 T A 1: 73,992,596 (GRCm39) D67V probably damaging Het
Tns2 T C 15: 102,021,280 (GRCm39) S982P probably damaging Het
Tpcn2 A T 7: 144,814,683 (GRCm39) F473I probably benign Het
Tsg101 A T 7: 46,542,257 (GRCm39) I232N probably damaging Het
Ttc3 T C 16: 94,268,848 (GRCm39) S1977P probably benign Het
Ttll11 T A 2: 35,869,527 (GRCm39) E37V unknown Het
Ttn A T 2: 76,649,160 (GRCm39) V12716E possibly damaging Het
Vmn2r70 A C 7: 85,212,923 (GRCm39) S495A probably benign Het
Zfp974 A G 7: 27,610,697 (GRCm39) C343R probably damaging Het
Zfy1 A T Y: 726,004 (GRCm39) I587N possibly damaging Het
Other mutations in Psmd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Psmd8 APN 7 28,878,576 (GRCm39) missense probably damaging 0.99
R0427:Psmd8 UTSW 7 28,875,552 (GRCm39) missense probably damaging 1.00
R1175:Psmd8 UTSW 7 28,875,598 (GRCm39) missense probably damaging 1.00
R1180:Psmd8 UTSW 7 28,874,825 (GRCm39) missense probably benign 0.00
R4237:Psmd8 UTSW 7 28,876,546 (GRCm39) missense probably damaging 0.99
R7749:Psmd8 UTSW 7 28,878,346 (GRCm39) splice site probably null
Z1186:Psmd8 UTSW 7 28,879,808 (GRCm39) missense probably benign
Z1186:Psmd8 UTSW 7 28,879,745 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGAGTTGCTCGTACATGCC -3'
(R):5'- GGTACCCTTAAGATGGACATTCC -3'

Sequencing Primer
(F):5'- TGCAGGATCCCGACCGAG -3'
(R):5'- TGGACATTCCACAGGCCGAAG -3'
Posted On 2020-01-23