Incidental Mutation 'IGL01139:Psmc6'
ID 52726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmc6
Ensembl Gene ENSMUSG00000021832
Gene Name proteasome (prosome, macropain) 26S subunit, ATPase, 6
Synonyms 2300001E01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01139
Quality Score
Status
Chromosome 14
Chromosomal Location 45567285-45587150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45581167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 321 (T321I)
Ref Sequence ENSEMBL: ENSMUSP00000022380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022380]
AlphaFold P62334
Predicted Effect probably benign
Transcript: ENSMUST00000022380
AA Change: T321I

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022380
Gene: ENSMUSG00000021832
AA Change: T321I

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: ENSMUST00000226739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228026
Predicted Effect probably benign
Transcript: ENSMUST00000228479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228831
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. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,259 (GRCm39) Y297* probably null Het
Actr3 A T 1: 125,333,622 (GRCm39) I215N probably damaging Het
Ambn C T 5: 88,612,376 (GRCm39) probably benign Het
Arhgef1 T A 7: 24,625,376 (GRCm39) probably benign Het
Arid1a A C 4: 133,421,308 (GRCm39) S832R unknown Het
Clca4a A T 3: 144,672,030 (GRCm39) I304N probably damaging Het
Dmxl2 G A 9: 54,366,248 (GRCm39) P274S probably damaging Het
Eif4enif1 T A 11: 3,171,143 (GRCm39) D211E probably damaging Het
Eri2 A G 7: 119,385,960 (GRCm39) probably null Het
Fhod3 C T 18: 25,199,401 (GRCm39) P691S probably benign Het
Flnb A G 14: 7,945,989 (GRCm38) S2465G probably damaging Het
Ftsj1 G A X: 8,112,831 (GRCm39) R171C probably damaging Het
Glb1l3 G A 9: 26,729,523 (GRCm39) T648I probably benign Het
Gm4222 T A 2: 89,978,889 (GRCm39) probably benign Het
Gm5475 G A 15: 100,322,096 (GRCm39) probably benign Het
Jaml C A 9: 45,012,317 (GRCm39) T268N possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Lrba A G 3: 86,549,969 (GRCm39) T217A possibly damaging Het
Ltn1 A G 16: 87,212,897 (GRCm39) S555P probably benign Het
Map3k15 T A X: 158,855,875 (GRCm39) M350K probably damaging Het
Mipol1 C A 12: 57,352,821 (GRCm39) Y53* probably null Het
Mn1 A G 5: 111,569,315 (GRCm39) D1095G probably damaging Het
Myh14 T C 7: 44,255,716 (GRCm39) probably benign Het
Nrn1 A G 13: 36,914,190 (GRCm39) C31R probably damaging Het
Nup210 A T 6: 91,007,079 (GRCm39) L579H possibly damaging Het
Nxf2 T C X: 133,851,145 (GRCm39) I578V probably benign Het
Obscn G A 11: 58,969,178 (GRCm39) A172V probably damaging Het
Or10h1b T A 17: 33,395,756 (GRCm39) Y123N probably damaging Het
Or9g4 T G 2: 85,504,841 (GRCm39) Y218S probably damaging Het
Phtf1 A G 3: 103,912,918 (GRCm39) D748G probably damaging Het
Psd3 A T 8: 68,361,187 (GRCm39) Y863N probably damaging Het
Rassf6 T C 5: 90,756,825 (GRCm39) *31W probably null Het
Rictor A C 15: 6,807,749 (GRCm39) K791Q probably damaging Het
Slc12a9 C T 5: 137,321,104 (GRCm39) M470I probably damaging Het
Tex28 A T X: 73,194,830 (GRCm39) M367K possibly damaging Het
Thnsl2 A T 6: 71,115,718 (GRCm39) V163D probably damaging Het
Tmco3 G A 8: 13,369,887 (GRCm39) R633Q possibly damaging Het
Trf A T 9: 103,100,803 (GRCm39) V224D probably damaging Het
Ttc8 C T 12: 98,930,804 (GRCm39) Q273* probably null Het
Usp9x A G X: 12,970,815 (GRCm39) probably benign Het
Vmn2r117 A G 17: 23,696,778 (GRCm39) W210R probably damaging Het
Vmn2r5 A G 3: 64,398,826 (GRCm39) S718P probably benign Het
Vps13a T C 19: 16,617,989 (GRCm39) D2932G probably damaging Het
Whamm T C 7: 81,245,662 (GRCm39) L706P probably damaging Het
Yeats2 G A 16: 20,033,143 (GRCm39) V45I probably damaging Het
Yipf3 G A 17: 46,561,383 (GRCm39) probably null Het
Zeb1 T C 18: 5,705,061 (GRCm39) V26A possibly damaging Het
Other mutations in Psmc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21