Incidental Mutation 'IGL02605:Psmc1'
ID300225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmc1
Ensembl Gene ENSMUSG00000021178
Gene Nameprotease (prosome, macropain) 26S subunit, ATPase 1
SynonymsS4, Rpt2/S4, rpt2, P26s4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02605
Quality Score
Status
Chromosome12
Chromosomal Location100110154-100123405 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 100119127 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 249 (R249L)
Ref Sequence ENSEMBL: ENSMUSP00000021595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021595]
Predicted Effect probably damaging
Transcript: ENSMUST00000021595
AA Change: R249L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178
AA Change: R249L

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
low complexity region 27 43 N/A INTRINSIC
AAA 218 357 1.57e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223078
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 one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are embryonic lethal. Conditional null in cortical neurons causes neurodegeneration and premature death in several different models. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,717,257 Y992F probably benign Het
Adgrg6 T A 10: 14,467,232 N324Y probably damaging Het
Ampd3 T C 7: 110,795,758 F305L probably benign Het
Ankrd35 A G 3: 96,681,072 probably null Het
Api5 A G 2: 94,429,719 I64T possibly damaging Het
Arhgap21 A G 2: 20,855,588 I1165T probably damaging Het
Bdp1 T C 13: 100,078,115 probably null Het
Capn3 T A 2: 120,496,037 I570N probably damaging Het
Catsperg2 T C 7: 29,719,565 H232R possibly damaging Het
Clcn7 T C 17: 25,146,818 L156P possibly damaging Het
Cpa3 C A 3: 20,222,212 V286F probably benign Het
Csrnp3 G A 2: 66,022,809 C527Y probably damaging Het
Dock5 A T 14: 67,828,438 V372E probably benign Het
Elmo1 T C 13: 20,605,202 L696P probably damaging Het
Fam91a1 T C 15: 58,431,196 probably benign Het
Gm12695 T A 4: 96,762,751 D155V probably null Het
Hspa4l A G 3: 40,781,623 I559V probably benign Het
Kdm1a G T 4: 136,551,037 probably benign Het
Lrrc8d A T 5: 105,826,817 noncoding transcript Het
Minpp1 A T 19: 32,498,415 Y316F possibly damaging Het
Neto2 T C 8: 85,663,435 probably benign Het
Nrxn2 T A 19: 6,450,580 D277E probably benign Het
Ola1 A G 2: 73,142,300 probably benign Het
Olfr1298 A G 2: 111,645,505 V164A probably benign Het
Olfr550 T C 7: 102,579,395 I300T probably damaging Het
Olfr893 T A 9: 38,209,236 M61K probably damaging Het
Pam A G 1: 97,840,339 V722A possibly damaging Het
Pfdn6 T C 17: 33,939,103 Y90C probably benign Het
Pkhd1 T A 1: 20,550,902 H844L possibly damaging Het
Plk5 G A 10: 80,363,062 V422M probably damaging Het
Ptpro C T 6: 137,380,318 P269L probably benign Het
Ralgapa1 G T 12: 55,712,665 H1480Q possibly damaging Het
Rars G A 11: 35,824,526 probably benign Het
Rbm48 G A 5: 3,590,600 R260C possibly damaging Het
Smarcc1 C T 9: 110,222,000 H963Y possibly damaging Het
Spef2 T C 15: 9,725,152 E230G probably damaging Het
Spg11 A G 2: 122,092,260 S903P probably benign Het
Tas2r122 T C 6: 132,711,609 Y107C probably damaging Het
Tpm3 C A 3: 90,088,446 N204K probably benign Het
Wdr36 T C 18: 32,851,991 I450T possibly damaging Het
Other mutations in Psmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Psmc1 APN 12 100113078 missense probably damaging 1.00
IGL02445:Psmc1 APN 12 100114828 splice site probably benign
R0018:Psmc1 UTSW 12 100116692 splice site probably benign
R0018:Psmc1 UTSW 12 100116692 splice site probably benign
R0427:Psmc1 UTSW 12 100119228 missense probably damaging 0.96
R0534:Psmc1 UTSW 12 100120130 missense possibly damaging 0.79
R0931:Psmc1 UTSW 12 100119082 missense probably damaging 0.99
R1937:Psmc1 UTSW 12 100114843 missense probably benign 0.26
R2405:Psmc1 UTSW 12 100120103 missense probably benign 0.03
R5063:Psmc1 UTSW 12 100115475 missense probably damaging 0.97
R5293:Psmc1 UTSW 12 100115472 missense probably benign 0.11
R5346:Psmc1 UTSW 12 100120100 missense probably damaging 0.99
R5542:Psmc1 UTSW 12 100120140 critical splice donor site probably null
R7513:Psmc1 UTSW 12 100115514 missense probably benign 0.19
R7993:Psmc1 UTSW 12 100115565 missense probably benign 0.01
R8489:Psmc1 UTSW 12 100123097 missense probably benign 0.00
Posted On2015-04-16