Incidental Mutation 'IGL02291:Psmd5'
ID 290334
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 1500032A03Rik, S5b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02291
Quality Score
Status
Chromosome 2
Chromosomal Location 34849734-34874968 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34857799 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 282 (V282A)
Ref Sequence ENSEMBL: ENSMUSP00000028225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028225]
AlphaFold Q8BJY1
Predicted Effect probably benign
Transcript: ENSMUST00000028225
AA Change: V282A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
AA Change: V282A

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF366264 T A 8: 13,837,704 N129I probably benign Het
Arhgap10 T A 8: 77,382,715 probably benign Het
Cfap161 C T 7: 83,791,639 G135D probably benign Het
Cpne1 A G 2: 156,078,420 V179A probably damaging Het
Cpsf1 A T 15: 76,602,821 I219N probably damaging Het
Creb3l4 T G 3: 90,241,983 R139S probably benign Het
Fer1l4 T C 2: 156,019,538 K1929E probably damaging Het
Gm5431 A G 11: 48,888,964 L655P probably damaging Het
Igsf3 T G 3: 101,439,529 H613Q probably damaging Het
Kcnab1 T C 3: 65,357,082 Y251H possibly damaging Het
Kmt2d T C 15: 98,865,492 probably benign Het
Krt17 A T 11: 100,256,493 V404E probably benign Het
Lipo2 A G 19: 33,745,792 I199T possibly damaging Het
Mks1 T A 11: 87,859,667 probably benign Het
Nlrp1a A T 11: 71,122,589 probably null Het
Nup210 T C 6: 91,101,268 D100G probably damaging Het
Olfr108 G A 17: 37,446,285 V255I possibly damaging Het
Olfr1393 T A 11: 49,280,985 I279N probably damaging Het
Olfr532 A T 7: 140,419,287 L162Q probably damaging Het
Olfr871 T C 9: 20,212,802 I151T probably benign Het
Rasal3 A T 17: 32,393,737 probably benign Het
Rnf10 T C 5: 115,260,196 N93D probably damaging Het
Slc7a9 G A 7: 35,457,014 G294R probably damaging Het
Taf7 C T 18: 37,643,362 G51R possibly damaging Het
Tas2r126 G A 6: 42,435,287 M251I probably benign Het
Trim33 T C 3: 103,326,865 F473S probably damaging Het
Vmn1r127 A G 7: 21,319,074 L263P possibly damaging Het
Vmn1r234 G A 17: 21,228,931 V36I probably benign Het
Vmn2r84 T A 10: 130,390,748 H407L probably damaging Het
Other mutations in Psmd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01815:Psmd5 APN 2 34852771 missense probably benign 0.05
IGL01929:Psmd5 APN 2 34863466 missense probably damaging 0.96
IGL02019:Psmd5 APN 2 34854274 missense probably benign 0.16
IGL02402:Psmd5 APN 2 34857772 missense probably damaging 0.98
R1597:Psmd5 UTSW 2 34867023 missense probably damaging 0.97
R1820:Psmd5 UTSW 2 34870746 splice site probably null
R4855:Psmd5 UTSW 2 34852552 utr 3 prime probably benign
R4948:Psmd5 UTSW 2 34870783 missense probably benign 0.00
R5019:Psmd5 UTSW 2 34865953 intron probably benign
R5633:Psmd5 UTSW 2 34856488 missense probably benign 0.00
R6208:Psmd5 UTSW 2 34867011 missense probably damaging 1.00
R6765:Psmd5 UTSW 2 34856533 missense probably benign
R6787:Psmd5 UTSW 2 34857637 critical splice donor site probably null
R7594:Psmd5 UTSW 2 34860729 missense probably benign 0.12
R7883:Psmd5 UTSW 2 34856512 missense possibly damaging 0.81
R8409:Psmd5 UTSW 2 34870844 missense probably damaging 0.99
R8886:Psmd5 UTSW 2 34857743 missense possibly damaging 0.71
R9218:Psmd5 UTSW 2 34857782 missense probably benign 0.12
R9457:Psmd5 UTSW 2 34854326 missense probably benign
Posted On 2015-04-16