Incidental Mutation 'IGL03023:Psmc4'
ID408037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmc4
Ensembl Gene ENSMUSG00000030603
Gene Nameproteasome (prosome, macropain) 26S subunit, ATPase, 4
SynonymsCIP21, MIP224, CAR interacting protein 21
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03023
Quality Score
Status
Chromosome7
Chromosomal Location28041707-28050101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28042860 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 264 (I264L)
Ref Sequence ENSEMBL: ENSMUSP00000032824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032824] [ENSMUST00000140053]
PDB Structure
Structure of Gankyrin-S6ATPase photo-cross-linked site-specifically, and incoporated by genetic code expansion [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032824
AA Change: I264L

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032824
Gene: ENSMUSG00000030603
AA Change: I264L

DomainStartEndE-ValueType
low complexity region 47 59 N/A INTRINSIC
Blast:AAA 96 156 2e-31 BLAST
AAA 198 337 2.6e-24 SMART
Blast:AAA 368 418 7e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138512
Predicted Effect probably benign
Transcript: ENSMUST00000140053
AA Change: I233L

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
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 member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. Mice heterozygous for a knock-out allele and a conditional allele activated in motor neurons develop ALS-like symptoms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,904,984 D28G probably damaging Het
BC067074 A G 13: 113,351,741 D99G probably benign Het
Btaf1 C T 19: 37,010,015 R1746C possibly damaging Het
Comp T C 8: 70,378,610 probably benign Het
Cyp2d9 A G 15: 82,455,518 T313A probably damaging Het
Cyp3a59 T A 5: 146,085,850 D55E probably benign Het
Dysf A G 6: 84,193,007 Y1790C probably damaging Het
Fmo3 A C 1: 162,958,465 F319V probably benign Het
Frem2 A T 3: 53,655,628 V486D probably benign Het
Gucy2c A T 6: 136,702,796 probably null Het
Hdac7 A T 15: 97,797,957 Y674N probably damaging Het
Inpp5a G A 7: 139,525,786 probably null Het
Jup T C 11: 100,380,692 probably benign Het
Krt84 T C 15: 101,528,445 T385A possibly damaging Het
Nbeal1 T C 1: 60,253,413 Y1075H probably damaging Het
Nphp4 A G 4: 152,524,235 probably null Het
Olfr109 A G 17: 37,466,994 T263A probably benign Het
Olfr1178 G A 2: 88,391,343 C32Y probably damaging Het
Olfr1333 A T 4: 118,830,252 F63I probably damaging Het
Rwdd4a T C 8: 47,542,768 V61A probably benign Het
Setx A G 2: 29,145,902 T800A probably benign Het
Vmn1r74 T C 7: 11,847,330 C186R possibly damaging Het
Vsig2 A G 9: 37,542,412 Y136C probably damaging Het
Other mutations in Psmc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03054:Psmc4 UTSW 7 28047180 missense probably damaging 1.00
R0117:Psmc4 UTSW 7 28042740 splice site probably benign
R0725:Psmc4 UTSW 7 28048862 missense probably benign
R1371:Psmc4 UTSW 7 28042797 splice site probably benign
R2063:Psmc4 UTSW 7 28048897 missense probably damaging 0.97
R4833:Psmc4 UTSW 7 28047512 missense probably damaging 1.00
R5942:Psmc4 UTSW 7 28047055 missense probably damaging 1.00
R7307:Psmc4 UTSW 7 28042660 missense probably benign 0.02
Posted On2016-08-02