Incidental Mutation 'IGL02474:Psme3'
ID 294839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psme3
Ensembl Gene ENSMUSG00000078652
Gene Name proteaseome (prosome, macropain) activator subunit 3 (PA28 gamma, Ki)
Synonyms pa28g, REGgamma, PA28gamma, Ki
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # IGL02474
Quality Score
Status
Chromosome 11
Chromosomal Location 101207039-101214363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101208480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 82 (Q82R)
Ref Sequence ENSEMBL: ENSMUSP00000118279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019470] [ENSMUST00000142640] [ENSMUST00000151385]
AlphaFold P61290
Predicted Effect probably benign
Transcript: ENSMUST00000019470
AA Change: Q57R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019470
Gene: ENSMUSG00000078652
AA Change: Q57R

DomainStartEndE-ValueType
Pfam:PA28_alpha 9 69 2.9e-30 PFAM
Pfam:PA28_beta 108 252 3e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131170
Predicted Effect probably benign
Transcript: ENSMUST00000142640
AA Change: Q82R

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118279
Gene: ENSMUSG00000078652
AA Change: Q82R

DomainStartEndE-ValueType
Pfam:PA28_alpha 31 95 8.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151385
AA Change: Q68R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116996
Gene: ENSMUSG00000078652
AA Change: Q68R

DomainStartEndE-ValueType
Pfam:PA28_alpha 17 81 1.5e-32 PFAM
Pfam:PA28_beta 116 203 5.6e-40 PFAM
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. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous null mutants are smaller than normal with a defect in cell proliferation and increased susceptibility to fungal infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,038,491 (GRCm39) E283G probably damaging Het
Ahnak A G 19: 8,982,297 (GRCm39) I1194V probably benign Het
Aqr T A 2: 113,943,127 (GRCm39) N1149Y probably damaging Het
Bms1 T C 6: 118,393,480 (GRCm39) I131V probably benign Het
Cacna1s A C 1: 136,046,118 (GRCm39) T1461P probably benign Het
Chrnb3 T C 8: 27,883,397 (GRCm39) S113P probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Cramp1 A G 17: 25,204,024 (GRCm39) V318A probably damaging Het
Csf2ra A G 19: 61,214,975 (GRCm39) V163A possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ctnnd2 A G 15: 30,669,708 (GRCm39) D439G possibly damaging Het
Dnah11 T A 12: 117,991,180 (GRCm39) probably null Het
Dyrk4 C A 6: 126,857,194 (GRCm39) C495F probably damaging Het
Gabra6 A G 11: 42,198,244 (GRCm39) V402A probably benign Het
Gba2 T C 4: 43,568,538 (GRCm39) M643V possibly damaging Het
Gbp9 A T 5: 105,242,433 (GRCm39) probably benign Het
Ginm1 A G 10: 7,653,532 (GRCm39) probably benign Het
Git1 T A 11: 77,394,217 (GRCm39) D282E probably damaging Het
Gm5799 T C 14: 43,782,086 (GRCm39) I86T probably damaging Het
Gm9894 T C 13: 67,913,213 (GRCm39) noncoding transcript Het
Gng12 A G 6: 66,992,745 (GRCm39) K4R probably benign Het
Hnrnpul1 A T 7: 25,426,182 (GRCm39) D556E probably benign Het
Kat6b T A 14: 21,719,107 (GRCm39) L1153Q possibly damaging Het
Ly75 A T 2: 60,213,526 (GRCm39) L17Q probably null Het
Mc5r T C 18: 68,471,910 (GRCm39) F90L probably damaging Het
Or1x2 C A 11: 50,918,192 (GRCm39) A121D probably damaging Het
Or5k8 A T 16: 58,645,019 (GRCm39) S18T probably benign Het
Or6b13 T C 7: 139,782,500 (GRCm39) Y61C probably damaging Het
Or7c70 A T 10: 78,682,897 (GRCm39) M284K probably damaging Het
Or8b9 A T 9: 37,766,656 (GRCm39) I181L probably benign Het
Pi4ka A T 16: 17,143,293 (GRCm39) Y6N probably damaging Het
Polr2g C A 19: 8,775,820 (GRCm39) probably null Het
Rab11a G T 9: 64,633,929 (GRCm39) T17K possibly damaging Het
Rbm12 A T 2: 155,940,017 (GRCm39) L85Q probably damaging Het
Skap1 A T 11: 96,599,512 (GRCm39) Y188F probably damaging Het
Tmprss6 A T 15: 78,326,536 (GRCm39) F34I probably damaging Het
Trip12 A C 1: 84,771,854 (GRCm39) I98S probably benign Het
Ttn T C 2: 76,708,532 (GRCm39) probably benign Het
Ube2t A T 1: 134,899,079 (GRCm39) K21* probably null Het
Vmn1r216 T C 13: 23,283,647 (GRCm39) V110A possibly damaging Het
Vmn2r109 A T 17: 20,761,150 (GRCm39) F736I probably benign Het
Vps13c A G 9: 67,845,158 (GRCm39) T2081A probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Psme3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03380:Psme3 APN 11 101,210,852 (GRCm39) critical splice donor site probably null
R0432:Psme3 UTSW 11 101,211,268 (GRCm39) missense possibly damaging 0.84
R0545:Psme3 UTSW 11 101,210,730 (GRCm39) splice site probably benign
R0747:Psme3 UTSW 11 101,207,872 (GRCm39) missense probably benign 0.04
R3889:Psme3 UTSW 11 101,210,282 (GRCm39) missense probably damaging 0.96
R4603:Psme3 UTSW 11 101,208,435 (GRCm39) splice site probably null
R4849:Psme3 UTSW 11 101,207,907 (GRCm39) missense probably benign 0.00
R8693:Psme3 UTSW 11 101,211,422 (GRCm39) missense probably damaging 0.98
R9235:Psme3 UTSW 11 101,211,594 (GRCm39) missense possibly damaging 0.95
R9322:Psme3 UTSW 11 101,211,437 (GRCm39) missense probably damaging 1.00
R9416:Psme3 UTSW 11 101,211,559 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16