Incidental Mutation 'R6120:Psmc6'
ID 485731
Institutional Source Beutler Lab
Gene Symbol Psmc6
Ensembl Gene ENSMUSG00000021832
Gene Name proteasome (prosome, macropain) 26S subunit, ATPase, 6
Synonyms 2300001E01Rik
MMRRC Submission 044268-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6120 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 45567285-45587150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45586130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 381 (E381G)
Ref Sequence ENSEMBL: ENSMUSP00000022380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022380] [ENSMUST00000111835] [ENSMUST00000226303] [ENSMUST00000226603] [ENSMUST00000226785] [ENSMUST00000226873] [ENSMUST00000228818] [ENSMUST00000228311]
AlphaFold P62334
Predicted Effect possibly damaging
Transcript: ENSMUST00000022380
AA Change: E381G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022380
Gene: ENSMUSG00000021832
AA Change: E381G

DomainStartEndE-ValueType
low complexity region 25 39 N/A INTRINSIC
AAA 166 305 8.77e-22 SMART
Blast:AAA 333 381 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000111835
SMART Domains Protein: ENSMUSP00000107466
Gene: ENSMUSG00000053205

DomainStartEndE-ValueType
DSPc 28 173 2.71e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226303
Predicted Effect probably benign
Transcript: ENSMUST00000226603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226739
Predicted Effect probably benign
Transcript: ENSMUST00000226785
Predicted Effect probably benign
Transcript: ENSMUST00000226873
Predicted Effect probably benign
Transcript: ENSMUST00000228818
Predicted Effect probably benign
Transcript: ENSMUST00000228311
Meta Mutation Damage Score 0.3711 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.6%
Validation Efficiency 98% (55/56)
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. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,638,795 (GRCm39) V398E possibly damaging Het
Ankef1 A G 2: 136,392,296 (GRCm39) N495S probably benign Het
Bpifb3 G T 2: 153,773,363 (GRCm39) V428L probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,230,785 (GRCm39) L362S probably benign Het
Ccdc33 G A 9: 57,993,883 (GRCm39) P88S probably damaging Het
Cdk14 A T 5: 4,944,029 (GRCm39) D385E probably damaging Het
Chrna4 A G 2: 180,666,599 (GRCm39) L613P probably damaging Het
Cnot3 T A 7: 3,648,335 (GRCm39) probably null Het
Csf1 T A 3: 107,661,170 (GRCm39) I116L probably damaging Het
Csrp2 G T 10: 110,775,140 (GRCm39) A192S probably benign Het
Dnah9 T C 11: 66,038,225 (GRCm39) T104A probably benign Het
Eml1 C T 12: 108,493,983 (GRCm39) P593S probably damaging Het
Entpd2 T A 2: 25,289,478 (GRCm39) I320N probably benign Het
Exosc9 A T 3: 36,608,821 (GRCm39) N140I probably damaging Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Fes T C 7: 80,030,615 (GRCm39) D558G probably damaging Het
Fgfr2 G T 7: 129,830,420 (GRCm39) T186K probably benign Het
Fnip1 A G 11: 54,400,826 (GRCm39) E1075G probably benign Het
Gbf1 A G 19: 46,267,760 (GRCm39) I1203V possibly damaging Het
Gja1 T A 10: 56,264,601 (GRCm39) M320K probably benign Het
Gm5431 A G 11: 48,785,608 (GRCm39) Y256H probably benign Het
Gpr20 C T 15: 73,567,853 (GRCm39) V179M probably damaging Het
Greb1 T G 12: 16,758,622 (GRCm39) D698A probably damaging Het
Hook2 A G 8: 85,724,754 (GRCm39) E500G probably damaging Het
Kif13b A T 14: 64,989,007 (GRCm39) N796I probably damaging Het
Kif1a C T 1: 92,952,296 (GRCm39) probably null Het
Lama1 T C 17: 68,087,612 (GRCm39) probably null Het
Mfsd1 C T 3: 67,501,718 (GRCm39) Q246* probably null Het
Mkrn3 A G 7: 62,069,282 (GRCm39) S170P probably benign Het
Ms4a6b A G 19: 11,499,059 (GRCm39) M58V probably benign Het
Muc4 T C 16: 32,577,169 (GRCm39) V2223A unknown Het
Mycbp2 A T 14: 103,513,323 (GRCm39) V811D probably benign Het
Or5p59 A T 7: 107,703,340 (GRCm39) N275Y probably damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or9g4b T C 2: 85,616,685 (GRCm39) F277L probably damaging Het
Pcsk2 A G 2: 143,643,031 (GRCm39) E436G probably damaging Het
Pet100 T G 8: 3,671,764 (GRCm39) probably null Het
Pira2 A G 7: 3,844,553 (GRCm39) Y493H probably damaging Het
Prkdc C A 16: 15,557,335 (GRCm39) R2213S probably benign Het
Prmt2 A G 10: 76,045,280 (GRCm39) I342T possibly damaging Het
Rrm1 G A 7: 102,110,063 (GRCm39) probably null Het
Sema3c A G 5: 17,932,630 (GRCm39) D711G probably benign Het
Sgcb T C 5: 73,798,153 (GRCm39) E103G possibly damaging Het
Sh3pxd2a A G 19: 47,255,848 (GRCm39) S957P probably damaging Het
Slc26a2 A G 18: 61,332,489 (GRCm39) V314A possibly damaging Het
Smarca5 G T 8: 81,438,372 (GRCm39) H655N probably damaging Het
Sspo T A 6: 48,442,510 (GRCm39) S2002T probably damaging Het
Sync T C 4: 129,187,544 (GRCm39) L192P probably damaging Het
Ush2a T C 1: 188,090,800 (GRCm39) M477T probably benign Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Vcam1 A G 3: 115,918,049 (GRCm39) V304A probably damaging Het
Vmn2r115 T A 17: 23,565,003 (GRCm39) W297R probably damaging Het
Vmn2r120 T A 17: 57,832,973 (GRCm39) M69L probably benign Het
Wdr11 A G 7: 129,226,515 (GRCm39) D771G probably damaging Het
Other mutations in Psmc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Psmc6 APN 14 45,581,167 (GRCm39) missense probably benign 0.27
IGL01396:Psmc6 APN 14 45,581,124 (GRCm39) missense probably benign 0.21
R2072:Psmc6 UTSW 14 45,567,323 (GRCm39) missense possibly damaging 0.94
R5948:Psmc6 UTSW 14 45,572,114 (GRCm39) missense probably benign 0.37
R6168:Psmc6 UTSW 14 45,581,140 (GRCm39) missense probably damaging 1.00
R6931:Psmc6 UTSW 14 45,581,182 (GRCm39) missense possibly damaging 0.86
R7548:Psmc6 UTSW 14 45,572,375 (GRCm39) missense probably benign 0.00
R7772:Psmc6 UTSW 14 45,581,107 (GRCm39) missense probably damaging 1.00
R8059:Psmc6 UTSW 14 45,578,260 (GRCm39) missense probably damaging 0.99
R8856:Psmc6 UTSW 14 45,578,320 (GRCm39) missense probably damaging 0.99
R9040:Psmc6 UTSW 14 45,581,111 (GRCm39) missense probably benign
R9448:Psmc6 UTSW 14 45,568,483 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGGCTCAGAAGTAGTAAGTGTATATC -3'
(R):5'- ACCAAACATGACTTTCTTCTGTACC -3'

Sequencing Primer
(F):5'- GCTGAGCTTACTTACAGTCAGGTAC -3'
(R):5'- GATCATTGCCAATACATACATT -3'
Posted On 2017-08-16