Incidental Mutation 'IGL02402:Psmd5'
ID 291928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmd5
Ensembl Gene ENSMUSG00000026869
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 5
Synonyms S5b, 1500032A03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02402
Quality Score
Status
Chromosome 2
Chromosomal Location 34742099-34760983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34747784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 291 (E291G)
Ref Sequence ENSEMBL: ENSMUSP00000028225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028225]
AlphaFold Q8BJY1
Predicted Effect probably damaging
Transcript: ENSMUST00000028225
AA Change: E291G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
AA Change: E291G

DomainStartEndE-ValueType
Pfam:Proteasom_PSMB 1 504 3.8e-199 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135575
SMART Domains Protein: ENSMUSP00000116880
Gene: ENSMUSG00000026869

DomainStartEndE-ValueType
Pfam:Proteasom_PSMB 1 56 1.4e-17 PFAM
Pfam:Proteasom_PSMB 51 140 1.5e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143456
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. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,707,543 (GRCm39) F568L probably benign Het
AW112010 T A 19: 11,025,741 (GRCm39) noncoding transcript Het
Bbs4 A T 9: 59,237,729 (GRCm39) L205H probably benign Het
Bmal2 T C 6: 146,711,266 (GRCm39) V90A possibly damaging Het
C2cd2l T C 9: 44,227,878 (GRCm39) K121R probably benign Het
Car14 A G 3: 95,806,870 (GRCm39) V198A possibly damaging Het
Cd22 G T 7: 30,576,955 (GRCm39) H117Q possibly damaging Het
Celf1 T A 2: 90,829,068 (GRCm39) I45N probably damaging Het
Cluh T C 11: 74,547,997 (GRCm39) S103P probably damaging Het
Cyp39a1 T A 17: 44,002,613 (GRCm39) L276Q probably benign Het
Ddx27 T G 2: 166,857,245 (GRCm39) probably benign Het
Defb4 A T 8: 19,251,279 (GRCm39) I49F possibly damaging Het
Dock8 C A 19: 25,055,509 (GRCm39) T157K probably benign Het
Dpp6 T C 5: 27,839,541 (GRCm39) V352A probably damaging Het
Elmo2 C T 2: 165,139,312 (GRCm39) E412K probably damaging Het
Eme1 G A 11: 94,541,733 (GRCm39) P30S possibly damaging Het
Espnl G T 1: 91,272,535 (GRCm39) A632S probably benign Het
Gfod1 C A 13: 43,354,211 (GRCm39) A255S probably benign Het
Helz2 T A 2: 180,872,704 (GRCm39) K2432M probably damaging Het
Idua T C 5: 108,827,657 (GRCm39) L157P probably damaging Het
Ifi207 T A 1: 173,555,159 (GRCm39) D848V probably damaging Het
Jag1 C T 2: 136,927,858 (GRCm39) S851N possibly damaging Het
Kat6b T A 14: 21,681,415 (GRCm39) F571I probably damaging Het
Lrrc74b G A 16: 17,376,028 (GRCm39) probably benign Het
Mst1r A G 9: 107,794,026 (GRCm39) K1160E probably damaging Het
Muc19 C A 15: 91,778,192 (GRCm39) noncoding transcript Het
Nrg4 G A 9: 55,135,198 (GRCm39) probably benign Het
Ociad1 T C 5: 73,458,037 (GRCm39) I12T possibly damaging Het
Or1o3 A G 17: 37,574,111 (GRCm39) V148A possibly damaging Het
Pold3 A G 7: 99,749,618 (GRCm39) probably benign Het
Ptpn23 A G 9: 110,222,781 (GRCm39) V92A possibly damaging Het
Rab44 T A 17: 29,359,490 (GRCm39) H559Q probably benign Het
Rbm6 T C 9: 107,730,051 (GRCm39) D199G probably damaging Het
Rps18-ps3 C T 8: 107,989,754 (GRCm39) noncoding transcript Het
Septin10 T C 10: 59,006,758 (GRCm39) T93A probably benign Het
Slmap T C 14: 26,184,865 (GRCm39) T111A probably damaging Het
Spata25 C T 2: 164,670,377 (GRCm39) M1I probably null Het
Spink5 T A 18: 44,100,171 (GRCm39) C63S probably damaging Het
Sycp3 T C 10: 88,302,425 (GRCm39) probably benign Het
Tarbp1 A G 8: 127,177,567 (GRCm39) probably benign Het
Thbs2 A T 17: 14,891,716 (GRCm39) N940K probably benign Het
Tmem106b A T 6: 13,081,600 (GRCm39) Q169L possibly damaging Het
Trpm6 G T 19: 18,764,120 (GRCm39) C242F probably benign Het
Ush2a T A 1: 187,999,305 (GRCm39) M205K probably benign Het
Utp18 A C 11: 93,774,617 (GRCm39) probably benign Het
Other mutations in Psmd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01815:Psmd5 APN 2 34,742,783 (GRCm39) missense probably benign 0.05
IGL01929:Psmd5 APN 2 34,753,478 (GRCm39) missense probably damaging 0.96
IGL02019:Psmd5 APN 2 34,744,286 (GRCm39) missense probably benign 0.16
IGL02291:Psmd5 APN 2 34,747,811 (GRCm39) missense probably benign
R1597:Psmd5 UTSW 2 34,757,035 (GRCm39) missense probably damaging 0.97
R1820:Psmd5 UTSW 2 34,760,758 (GRCm39) splice site probably null
R4855:Psmd5 UTSW 2 34,742,564 (GRCm39) utr 3 prime probably benign
R4948:Psmd5 UTSW 2 34,760,795 (GRCm39) missense probably benign 0.00
R5019:Psmd5 UTSW 2 34,755,965 (GRCm39) intron probably benign
R5633:Psmd5 UTSW 2 34,746,500 (GRCm39) missense probably benign 0.00
R6208:Psmd5 UTSW 2 34,757,023 (GRCm39) missense probably damaging 1.00
R6765:Psmd5 UTSW 2 34,746,545 (GRCm39) missense probably benign
R6787:Psmd5 UTSW 2 34,747,649 (GRCm39) critical splice donor site probably null
R7594:Psmd5 UTSW 2 34,750,741 (GRCm39) missense probably benign 0.12
R7883:Psmd5 UTSW 2 34,746,524 (GRCm39) missense possibly damaging 0.81
R8409:Psmd5 UTSW 2 34,760,856 (GRCm39) missense probably damaging 0.99
R8886:Psmd5 UTSW 2 34,747,755 (GRCm39) missense possibly damaging 0.71
R9218:Psmd5 UTSW 2 34,747,794 (GRCm39) missense probably benign 0.12
R9457:Psmd5 UTSW 2 34,744,338 (GRCm39) missense probably benign
Posted On 2015-04-16