Incidental Mutation 'IGL01529:Psmd8'
ID 89683
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmd8
Ensembl Gene ENSMUSG00000030591
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 8
Synonyms C76433, 6720456J22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL01529
Quality Score
Status
Chromosome 7
Chromosomal Location 28873612-28880098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28878576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 81 (I81N)
Ref Sequence ENSEMBL: ENSMUSP00000146882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000059642] [ENSMUST00000163782] [ENSMUST00000169143] [ENSMUST00000186182] [ENSMUST00000182328] [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 damaging
Transcript: ENSMUST00000059642
AA Change: I145N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051657
Gene: ENSMUSG00000030591
AA Change: I145N

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 noncoding transcript
Transcript: ENSMUST00000085819
Predicted Effect probably benign
Transcript: ENSMUST00000163782
SMART Domains Protein: ENSMUSP00000127409
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 1 93 1.7e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166419
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 noncoding transcript
Transcript: ENSMUST00000170118
Predicted Effect probably damaging
Transcript: ENSMUST00000186182
AA Change: I145N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139514
Gene: ENSMUSG00000030591
AA Change: I145N

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 damaging
Transcript: ENSMUST00000182328
AA Change: I81N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138613
Gene: ENSMUSG00000030591
AA Change: I81N

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 damaging
Transcript: ENSMUST00000209034
AA Change: I81N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208461
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 83,800,622 (GRCm39) I144N possibly damaging Het
Adamts19 T A 18: 59,096,535 (GRCm39) H588Q probably damaging Het
Ankrd2 A G 19: 42,028,349 (GRCm39) K46E probably damaging Het
Arhgap10 A C 8: 78,072,920 (GRCm39) L513V possibly damaging Het
Arhgef12 C A 9: 42,901,351 (GRCm39) R817L probably damaging Het
Asxl3 T A 18: 22,650,712 (GRCm39) N900K probably damaging Het
Atp9b A T 18: 80,887,826 (GRCm39) probably benign Het
Cdc27 T C 11: 104,398,042 (GRCm39) N773D probably damaging Het
Cep97 A G 16: 55,750,981 (GRCm39) probably benign Het
Dgkd T C 1: 87,808,133 (GRCm39) F67S probably damaging Het
Dolk T C 2: 30,175,749 (GRCm39) T99A probably benign Het
Egfr A T 11: 16,813,014 (GRCm39) R165W probably benign Het
Fat2 T A 11: 55,172,982 (GRCm39) D2577V probably damaging Het
Hsph1 T C 5: 149,559,499 (GRCm39) I15V probably benign Het
Idh2 T C 7: 79,747,693 (GRCm39) T276A probably benign Het
Jag1 T C 2: 136,926,897 (GRCm39) Y954C probably damaging Het
Kat2a A T 11: 100,602,735 (GRCm39) W118R probably damaging Het
Kcnh6 G T 11: 105,911,522 (GRCm39) R636L probably benign Het
Klk1b16 G T 7: 43,790,163 (GRCm39) K144N probably benign Het
Lrrk2 T A 15: 91,696,516 (GRCm39) L2435I possibly damaging Het
Ltbp3 A G 19: 5,797,867 (GRCm39) D502G probably benign Het
Ltn1 A T 16: 87,178,359 (GRCm39) N1623K probably benign Het
Mcm10 C A 2: 5,013,439 (GRCm39) E64D probably benign Het
Med13l A G 5: 118,880,400 (GRCm39) N1164S probably damaging Het
Myo1a A G 10: 127,556,529 (GRCm39) N1025D probably benign Het
Or2m12 A T 16: 19,105,450 (GRCm39) D14E probably benign Het
Or8g27 C T 9: 39,129,427 (GRCm39) T258I probably benign Het
Pdcd11 A G 19: 47,098,068 (GRCm39) N785D probably benign Het
Rigi G A 4: 40,225,685 (GRCm39) H194Y probably benign Het
Ryr1 C T 7: 28,774,652 (GRCm39) G2330R probably damaging Het
Scrib T C 15: 75,921,084 (GRCm39) T80A possibly damaging Het
Sergef A T 7: 46,092,942 (GRCm39) W356R probably damaging Het
Slc22a19 T C 19: 7,660,300 (GRCm39) N370S probably damaging Het
Syde1 A G 10: 78,426,015 (GRCm39) S51P probably benign Het
Umodl1 A T 17: 31,215,233 (GRCm39) D1019V possibly damaging Het
Vmn2r45 A G 7: 8,486,493 (GRCm39) M265T probably benign Het
Other mutations in Psmd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8052:Psmd8 UTSW 7 28,880,001 (GRCm39) missense probably benign
Z1186:Psmd8 UTSW 7 28,879,808 (GRCm39) missense probably benign
Z1186:Psmd8 UTSW 7 28,879,745 (GRCm39) missense probably benign
Posted On 2013-12-03