Incidental Mutation 'IGL02494:Psmf1'
ID 295803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmf1
Ensembl Gene ENSMUSG00000032869
Gene Name proteasome (prosome, macropain) inhibitor subunit 1
Synonyms PI31
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02494
Quality Score
Status
Chromosome 2
Chromosomal Location 151557982-151586114 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 151582929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042452] [ENSMUST00000109869] [ENSMUST00000155939]
AlphaFold Q8BHL8
Predicted Effect probably null
Transcript: ENSMUST00000042452
SMART Domains Protein: ENSMUSP00000041184
Gene: ENSMUSG00000032869

DomainStartEndE-ValueType
Pfam:PI31_Prot_N 11 149 6.7e-31 PFAM
Pfam:PI31_Prot_C 153 248 1.4e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109869
SMART Domains Protein: ENSMUSP00000105495
Gene: ENSMUSG00000032869

DomainStartEndE-ValueType
Pfam:PI31_Prot_N 5 151 1.1e-34 PFAM
Pfam:PI31_Prot_C 175 248 1.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123449
Predicted Effect probably benign
Transcript: ENSMUST00000155939
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 protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 (GRCm39) C178Y possibly damaging Het
Arg2 A G 12: 79,198,697 (GRCm39) R242G probably benign Het
Ash1l T A 3: 88,973,525 (GRCm39) L2528* probably null Het
Astn2 T A 4: 65,910,585 (GRCm39) M468L probably benign Het
Bglap2 A T 3: 88,285,243 (GRCm39) C74* probably null Het
Cand1 A G 10: 119,049,522 (GRCm39) V408A probably benign Het
Ccdc14 A G 16: 34,543,784 (GRCm39) Y714C probably damaging Het
Ccdc88c C T 12: 100,911,734 (GRCm39) G707D probably benign Het
Cdk13 G A 13: 17,913,710 (GRCm39) R890* probably null Het
Cep192 A G 18: 67,937,453 (GRCm39) E61G probably benign Het
Ctdspl T C 9: 118,866,484 (GRCm39) L181P probably damaging Het
Dock7 C T 4: 98,877,471 (GRCm39) V442M probably benign Het
Dop1a T C 9: 86,408,871 (GRCm39) V1860A probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fscn2 G A 11: 120,253,228 (GRCm39) V232M probably benign Het
Gemin5 A T 11: 58,012,583 (GRCm39) C1458S probably benign Het
Glrb A G 3: 80,752,539 (GRCm39) V408A probably benign Het
Gtse1 C T 15: 85,751,704 (GRCm39) P299L probably damaging Het
Hcfc1r1 T A 17: 23,893,559 (GRCm39) M46K probably damaging Het
Hdc A G 2: 126,436,041 (GRCm39) F610S probably benign Het
Hip1 A T 5: 135,473,645 (GRCm39) C224* probably null Het
Hsd17b10 G T X: 150,787,230 (GRCm39) A241S probably benign Het
Igsf10 G T 3: 59,235,427 (GRCm39) Q1585K probably damaging Het
Kat2b T C 17: 53,960,233 (GRCm39) Y514H probably damaging Het
Krt78 T C 15: 101,862,486 (GRCm39) I58M probably benign Het
Lcat C A 8: 106,668,571 (GRCm39) probably benign Het
Naca G A 10: 127,877,179 (GRCm39) probably benign Het
Nbea T C 3: 55,712,772 (GRCm39) K2102E probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or1e35 A C 11: 73,797,550 (GRCm39) I256S possibly damaging Het
Or4b1b G A 2: 90,112,295 (GRCm39) S208F probably benign Het
Or4n4 A T 14: 50,519,683 (GRCm39) V9D probably damaging Het
Or7c19 C A 8: 85,957,312 (GRCm39) L63I possibly damaging Het
Patj T A 4: 98,592,224 (GRCm39) probably benign Het
Pcdhb17 G A 18: 37,618,347 (GRCm39) A46T possibly damaging Het
Phf8 T C X: 150,408,227 (GRCm39) V859A probably benign Het
Plec T A 15: 76,060,979 (GRCm39) E3054V probably damaging Het
Prr12 C A 7: 44,678,270 (GRCm39) K1958N unknown Het
Rsu1 T C 2: 13,222,002 (GRCm39) probably null Het
Samm50 T C 15: 84,080,015 (GRCm39) V31A probably benign Het
St14 A G 9: 31,019,941 (GRCm39) V56A possibly damaging Het
Trpc1 T C 9: 95,590,360 (GRCm39) N699S probably damaging Het
Ttn A T 2: 76,574,144 (GRCm39) M25583K probably damaging Het
Utrn A G 10: 12,585,798 (GRCm39) V993A probably benign Het
Other mutations in Psmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:Psmf1 APN 2 151,562,733 (GRCm39) splice site probably benign
R1099:Psmf1 UTSW 2 151,560,590 (GRCm39) missense probably damaging 1.00
R2858:Psmf1 UTSW 2 151,571,456 (GRCm39) missense probably damaging 0.96
R4983:Psmf1 UTSW 2 151,571,377 (GRCm39) intron probably benign
R7879:Psmf1 UTSW 2 151,576,163 (GRCm39) missense probably benign 0.35
R9169:Psmf1 UTSW 2 151,577,457 (GRCm39) missense probably benign 0.00
R9782:Psmf1 UTSW 2 151,577,533 (GRCm39) missense possibly damaging 0.74
Posted On 2015-04-16