Incidental Mutation 'R5948:Psmc6'
ID 472292
Institutional Source Beutler Lab
Gene Symbol Psmc6
Ensembl Gene ENSMUSG00000021832
Gene Name proteasome (prosome, macropain) 26S subunit, ATPase, 6
Synonyms 2300001E01Rik
MMRRC Submission 043244-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5948 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 45567285-45587150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45572114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 88 (D88G)
Ref Sequence ENSEMBL: ENSMUSP00000022380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022380] [ENSMUST00000228300]
AlphaFold P62334
Predicted Effect probably benign
Transcript: ENSMUST00000022380
AA Change: D88G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022380
Gene: ENSMUSG00000021832
AA Change: D88G

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 noncoding transcript
Transcript: ENSMUST00000226431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228026
Predicted Effect probably benign
Transcript: ENSMUST00000228300
Predicted Effect probably benign
Transcript: ENSMUST00000228479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228870
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
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. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 T C 3: 37,137,504 (GRCm39) probably null Het
Adam8 G T 7: 139,567,797 (GRCm39) D341E probably benign Het
Ankrd6 T C 4: 32,817,075 (GRCm39) T351A possibly damaging Het
Ccdc150 T C 1: 54,316,873 (GRCm39) S251P possibly damaging Het
Cfh T C 1: 140,036,546 (GRCm39) N629S probably damaging Het
Col4a2 T C 8: 11,470,600 (GRCm39) S453P probably benign Het
Csf2 T C 11: 54,138,514 (GRCm39) D109G probably benign Het
Dapk1 C A 13: 60,877,209 (GRCm39) H483N probably damaging Het
Dnah7c T G 1: 46,711,657 (GRCm39) I2628R probably benign Het
Dsp T C 13: 38,379,377 (GRCm39) Y2041H possibly damaging Het
Dusp10 A G 1: 183,801,073 (GRCm39) N280S probably benign Het
Efhc1 T A 1: 21,043,052 (GRCm39) Y324N probably damaging Het
Epsti1 T C 14: 78,177,330 (GRCm39) L170P probably damaging Het
Fbn2 C T 18: 58,170,121 (GRCm39) G2217R probably damaging Het
Fryl A G 5: 73,254,715 (GRCm39) probably null Het
Mrpl39 T C 16: 84,522,041 (GRCm39) N244D probably benign Het
Nptxr C T 15: 79,674,042 (GRCm39) A445T probably benign Het
Or1j15 A G 2: 36,459,363 (GRCm39) Y251C probably damaging Het
Otud3 A G 4: 138,624,925 (GRCm39) Y259H probably benign Het
Parvb G A 15: 84,187,662 (GRCm39) V257M probably damaging Het
Piezo1 T C 8: 123,210,086 (GRCm39) E2258G probably benign Het
Prpf8 A G 11: 75,400,015 (GRCm39) E2303G possibly damaging Het
Rbbp6 C T 7: 122,596,851 (GRCm39) T701I probably damaging Het
Rtl1 T A 12: 109,557,033 (GRCm39) D1602V possibly damaging Het
Rubcnl T C 14: 75,285,056 (GRCm39) L525P probably damaging Het
Sbf2 T C 7: 110,088,492 (GRCm39) D73G probably damaging Het
Sh3tc2 T A 18: 62,146,176 (GRCm39) M1185K probably damaging Het
Shank2 A G 7: 143,960,960 (GRCm39) K469E probably damaging Het
Ttc41 T C 10: 86,549,088 (GRCm39) L94P probably damaging Het
Ttf1 G A 2: 28,963,932 (GRCm39) A603T possibly damaging Het
Usp9y A T Y: 1,324,996 (GRCm39) H1686Q possibly damaging Het
Vps37a A G 8: 40,993,752 (GRCm39) E249G possibly damaging Het
Zfp273 A G 13: 67,973,918 (GRCm39) I316V probably benign Het
Zfp600 T A 4: 146,131,645 (GRCm39) N104K 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
R6120:Psmc6 UTSW 14 45,586,130 (GRCm39) missense possibly damaging 0.80
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'- GTTGTGTACAAGGGCACAGG -3'
(R):5'- GCAAGCACCTTCTAAAGACCTTG -3'

Sequencing Primer
(F):5'- GATCCTGCTGGTCTTAAACTCAGAG -3'
(R):5'- CCTTGAACTTAATAGGTAAGGGGTAG -3'
Posted On 2017-03-31