Incidental Mutation 'R8489:Psmc1'
ID 657906
Institutional Source Beutler Lab
Gene Symbol Psmc1
Ensembl Gene ENSMUSG00000021178
Gene Name protease (prosome, macropain) 26S subunit, ATPase 1
Synonyms P26s4, Rpt2/S4, rpt2, S4
MMRRC Submission 067932-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 100076461-100089623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100089356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 410 (R410C)
Ref Sequence ENSEMBL: ENSMUSP00000021595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021595] [ENSMUST00000021596]
AlphaFold P62192
Predicted Effect probably benign
Transcript: ENSMUST00000021595
AA Change: R410C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178
AA Change: R410C

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 probably benign
Transcript: ENSMUST00000021596
SMART Domains Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179

DomainStartEndE-ValueType
low complexity region 85 107 N/A INTRINSIC
low complexity region 146 154 N/A INTRINSIC
Pfam:NRDE-2 318 658 1.2e-107 PFAM
Blast:HAT 765 800 2e-10 BLAST
Blast:HAT 802 841 3e-16 BLAST
Blast:HAT 986 1018 3e-10 BLAST
Blast:HAT 1075 1109 1e-14 BLAST
Blast:HAT 1111 1143 8e-15 BLAST
low complexity region 1154 1171 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI661453 C A 17: 47,777,254 (GRCm39) probably benign Het
Apc2 T G 10: 80,143,298 (GRCm39) L466R probably damaging Het
Baz1b C A 5: 135,245,709 (GRCm39) P386H probably damaging Het
Ccdc149 T C 5: 52,533,999 (GRCm39) D389G probably benign Het
Cit T A 5: 116,083,962 (GRCm39) probably null Het
Cmas C A 6: 142,702,596 (GRCm39) A33E probably benign Het
Dcaf7 A G 11: 105,942,743 (GRCm39) N230S probably damaging Het
Dcun1d5 C A 9: 7,206,837 (GRCm39) probably benign Het
Dennd5b T A 6: 148,986,389 (GRCm39) D58V probably benign Het
Dmrt2 C A 19: 25,655,831 (GRCm39) Q477K probably damaging Het
Eva1c A G 16: 90,672,999 (GRCm39) N90S probably damaging Het
Fcgbp A T 7: 27,804,435 (GRCm39) I1848F possibly damaging Het
Fgfr2 T G 7: 129,769,534 (GRCm39) M522L probably benign Het
Fshr C A 17: 89,293,795 (GRCm39) K294N probably benign Het
Gja10 T C 4: 32,601,866 (GRCm39) I173V probably benign Het
Gmnn A G 13: 24,941,614 (GRCm39) S32P probably damaging Het
Hdac9 T C 12: 34,487,180 (GRCm39) N95D probably damaging Het
Ipo13 T C 4: 117,758,219 (GRCm39) T715A probably damaging Het
Klrc2 A G 6: 129,635,787 (GRCm39) S97P probably benign Het
Lrrn4 G A 2: 132,721,364 (GRCm39) S151L probably benign Het
Man2a1 G T 17: 64,908,765 (GRCm39) S12I possibly damaging Het
Mplkipl1 T C 19: 61,164,085 (GRCm39) T117A probably damaging Het
Mrgprb8 T A 7: 48,038,701 (GRCm39) V124E possibly damaging Het
Myo5c T C 9: 75,180,128 (GRCm39) W690R probably damaging Het
Ncapd2 T C 6: 125,150,745 (GRCm39) K817E probably damaging Het
Or51k2 T C 7: 103,596,328 (GRCm39) I185T probably damaging Het
Or5h27 A G 16: 59,006,400 (GRCm39) *149Q probably null Het
Or5p60 T A 7: 107,724,372 (GRCm39) I33F probably benign Het
Or8b50 T C 9: 38,518,232 (GRCm39) M157T probably benign Het
Pcdh18 A T 3: 49,709,038 (GRCm39) I759N probably damaging Het
Pcdhac2 A T 18: 37,278,207 (GRCm39) N396Y probably damaging Het
Pcm1 T A 8: 41,766,437 (GRCm39) C1542S probably benign Het
Pcsk1 T A 13: 75,274,121 (GRCm39) V450E probably damaging Het
Pld2 A G 11: 70,445,121 (GRCm39) K574E probably damaging Het
Pramel52-ps T C 5: 94,531,551 (GRCm39) L145P probably damaging Het
Rad51b C T 12: 79,374,024 (GRCm39) S201L probably benign Het
Rgs3 T A 4: 62,544,733 (GRCm39) L200Q probably damaging Het
Rims2 A G 15: 39,479,846 (GRCm39) M1293V probably damaging Het
Scin C T 12: 40,131,019 (GRCm39) G298D probably damaging Het
Scn8a C A 15: 100,867,014 (GRCm39) F123L probably damaging Het
Snapc3 G A 4: 83,369,531 (GRCm39) C353Y probably damaging Het
Sned1 C A 1: 93,210,978 (GRCm39) S231* probably null Het
Tex15 A G 8: 34,067,574 (GRCm39) T2335A probably benign Het
Tigd4 G A 3: 84,502,526 (GRCm39) G481D probably benign Het
Trank1 T G 9: 111,219,343 (GRCm39) F2027V probably benign Het
Ubr1 C T 2: 120,711,548 (GRCm39) A1449T probably benign Het
Ulk1 G T 5: 110,947,002 (GRCm39) Y89* probably null Het
Usp54 A G 14: 20,611,604 (GRCm39) F1071L probably benign Het
Utrn C T 10: 12,587,190 (GRCm39) E949K probably benign Het
Vmn2r65 T A 7: 84,589,964 (GRCm39) T651S possibly damaging Het
Wdfy1 A G 1: 79,739,368 (GRCm39) L17P probably damaging Het
Zfp672 G A 11: 58,220,681 (GRCm39) probably benign Het
Other mutations in Psmc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Psmc1 APN 12 100,079,337 (GRCm39) missense probably damaging 1.00
IGL02445:Psmc1 APN 12 100,081,087 (GRCm39) splice site probably benign
IGL02605:Psmc1 APN 12 100,085,386 (GRCm39) missense probably damaging 1.00
R0018:Psmc1 UTSW 12 100,082,951 (GRCm39) splice site probably benign
R0018:Psmc1 UTSW 12 100,082,951 (GRCm39) splice site probably benign
R0427:Psmc1 UTSW 12 100,085,487 (GRCm39) missense probably damaging 0.96
R0534:Psmc1 UTSW 12 100,086,389 (GRCm39) missense possibly damaging 0.79
R0931:Psmc1 UTSW 12 100,085,341 (GRCm39) missense probably damaging 0.99
R1937:Psmc1 UTSW 12 100,081,102 (GRCm39) missense probably benign 0.26
R2405:Psmc1 UTSW 12 100,086,362 (GRCm39) missense probably benign 0.03
R5063:Psmc1 UTSW 12 100,081,734 (GRCm39) missense probably damaging 0.97
R5293:Psmc1 UTSW 12 100,081,731 (GRCm39) missense probably benign 0.11
R5346:Psmc1 UTSW 12 100,086,359 (GRCm39) missense probably damaging 0.99
R5542:Psmc1 UTSW 12 100,086,399 (GRCm39) critical splice donor site probably null
R7513:Psmc1 UTSW 12 100,081,773 (GRCm39) missense probably benign 0.19
R7993:Psmc1 UTSW 12 100,081,824 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTGTTTCGGTCTGAACATACTG -3'
(R):5'- CAACAGATGGAGGCACAGTGTC -3'

Sequencing Primer
(F):5'- cctgggattaaaggcttc -3'
(R):5'- ACGATACAGGCTTTCTACTGG -3'
Posted On 2021-01-18