Incidental Mutation 'IGL02234:Psmc5'
ID 285830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmc5
Ensembl Gene ENSMUSG00000020708
Gene Name protease (prosome, macropain) 26S subunit, ATPase 5
Synonyms mSUG1, Rpt6
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL02234
Quality Score
Status
Chromosome 11
Chromosomal Location 106147011-106153938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106153836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 390 (V390A)
Ref Sequence ENSEMBL: ENSMUSP00000021049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021049] [ENSMUST00000021052] [ENSMUST00000106843] [ENSMUST00000133131] [ENSMUST00000140255]
AlphaFold P62196
Predicted Effect probably benign
Transcript: ENSMUST00000021049
AA Change: V390A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708
AA Change: V390A

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
AAA 182 321 6.96e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021052
SMART Domains Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619

DomainStartEndE-ValueType
low complexity region 5 42 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 122 131 N/A INTRINSIC
Blast:KISc 136 287 2e-36 BLAST
SWIB 307 386 1.3e-21 SMART
Blast:MYSc 468 514 5e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106841
Predicted Effect probably benign
Transcript: ENSMUST00000106843
SMART Domains Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619

DomainStartEndE-ValueType
low complexity region 75 84 N/A INTRINSIC
Blast:KISc 89 240 1e-36 BLAST
SWIB 260 339 1.3e-21 SMART
Blast:MYSc 421 467 5e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132278
Predicted Effect probably benign
Transcript: ENSMUST00000133131
SMART Domains Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
AAA 182 321 6.96e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174253
Predicted Effect probably benign
Transcript: ENSMUST00000140255
SMART Domains Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619

DomainStartEndE-ValueType
SWIB 29 108 1.3e-21 SMART
Blast:MYSc 190 236 6e-12 BLAST
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. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit absence of cocaine locomotor activity sensitization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,645,179 (GRCm39) T1010M possibly damaging Het
Atr A G 9: 95,829,303 (GRCm39) probably benign Het
Cdc42bpa A T 1: 179,978,756 (GRCm39) K1585* probably null Het
Cdh19 T C 1: 110,859,956 (GRCm39) D175G probably damaging Het
Celsr3 G T 9: 108,707,159 (GRCm39) R1214L probably benign Het
Chchd1 T C 14: 20,753,478 (GRCm39) probably null Het
Col4a1 T C 8: 11,266,713 (GRCm39) K1165E probably damaging Het
Col6a4 A G 9: 105,890,631 (GRCm39) F1888L possibly damaging Het
Csmd3 C A 15: 47,811,512 (GRCm39) R1193L probably damaging Het
Cyp2d11 T A 15: 82,274,340 (GRCm39) H347L probably benign Het
Cyp4f13 A G 17: 33,143,748 (GRCm39) probably benign Het
Dop1b T C 16: 93,549,039 (GRCm39) V193A probably benign Het
Dus4l T C 12: 31,691,495 (GRCm39) probably benign Het
Epc1 G A 18: 6,439,938 (GRCm39) H79Y probably damaging Het
Gm12588 T A 11: 121,799,151 (GRCm39) Het
Gpr107 T C 2: 31,067,845 (GRCm39) Y222H probably damaging Het
Gzmn C T 14: 56,406,464 (GRCm39) probably null Het
Helq A G 5: 100,944,336 (GRCm39) I258T possibly damaging Het
Hsp90ab1 T C 17: 45,880,661 (GRCm39) K137R probably benign Het
Htr1f T A 16: 64,746,430 (GRCm39) R287S probably damaging Het
Il20ra A C 10: 19,625,018 (GRCm39) D99A probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mboat7 A G 7: 3,694,350 (GRCm39) Y34H probably damaging Het
Mid2 T C X: 139,664,418 (GRCm39) S646P probably damaging Het
Msh6 T C 17: 88,294,229 (GRCm39) S995P probably damaging Het
Mtmr10 A G 7: 63,949,350 (GRCm39) I108V probably benign Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Nlrp4f A G 13: 65,342,302 (GRCm39) F448L probably damaging Het
Odc1 C A 12: 17,598,621 (GRCm39) D220E possibly damaging Het
Or8k33 T C 2: 86,383,610 (GRCm39) N286S probably damaging Het
Pax7 A G 4: 139,555,901 (GRCm39) I189T probably damaging Het
Pcdh12 T A 18: 38,416,588 (GRCm39) H179L probably damaging Het
Pcdh15 A T 10: 74,467,694 (GRCm39) M1836L probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rpgrip1 A G 14: 52,368,766 (GRCm39) probably benign Het
Sema5a C T 15: 32,679,318 (GRCm39) R866C probably damaging Het
Stox2 A G 8: 47,646,647 (GRCm39) F271S probably damaging Het
Tpgs2 T C 18: 25,282,301 (GRCm39) probably null Het
Ttll8 T A 15: 88,798,252 (GRCm39) I828F possibly damaging Het
Vmn1r7 T C 6: 57,001,537 (GRCm39) Y241C probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Psmc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02508:Psmc5 APN 11 106,153,869 (GRCm39) missense possibly damaging 0.54
Chomp UTSW 11 106,152,746 (GRCm39) nonsense probably null
R0398:Psmc5 UTSW 11 106,152,370 (GRCm39) missense probably benign 0.01
R0529:Psmc5 UTSW 11 106,151,990 (GRCm39) splice site probably null
R1642:Psmc5 UTSW 11 106,153,242 (GRCm39) missense probably benign 0.16
R5353:Psmc5 UTSW 11 106,152,327 (GRCm39) missense probably damaging 0.98
R6159:Psmc5 UTSW 11 106,152,088 (GRCm39) missense possibly damaging 0.82
R7647:Psmc5 UTSW 11 106,152,433 (GRCm39) missense possibly damaging 0.58
R7802:Psmc5 UTSW 11 106,152,538 (GRCm39) critical splice donor site probably null
R8757:Psmc5 UTSW 11 106,153,687 (GRCm39) missense probably benign 0.40
R8759:Psmc5 UTSW 11 106,153,687 (GRCm39) missense probably benign 0.40
R8783:Psmc5 UTSW 11 106,153,858 (GRCm39) missense possibly damaging 0.94
R8872:Psmc5 UTSW 11 106,152,746 (GRCm39) nonsense probably null
R8992:Psmc5 UTSW 11 106,152,787 (GRCm39) missense probably damaging 1.00
R9427:Psmc5 UTSW 11 106,153,303 (GRCm39) missense probably damaging 1.00
X0027:Psmc5 UTSW 11 106,153,418 (GRCm39) missense probably benign 0.33
Posted On 2015-04-16