Incidental Mutation 'R7275:Psmc3'
ID 565499
Institutional Source Beutler Lab
Gene Symbol Psmc3
Ensembl Gene ENSMUSG00000002102
Gene Name proteasome (prosome, macropain) 26S subunit, ATPase 3
Synonyms Tat binding protein 1, TBP-1
MMRRC Submission 045358-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7275 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90884361-90889783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90886275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 163 (I163N)
Ref Sequence ENSEMBL: ENSMUSP00000002171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002171] [ENSMUST00000067663] [ENSMUST00000111441] [ENSMUST00000185715]
AlphaFold O88685
Predicted Effect probably damaging
Transcript: ENSMUST00000002171
AA Change: I163N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000002171
Gene: ENSMUSG00000002102
AA Change: I163N

DomainStartEndE-ValueType
AAA 222 361 6.65e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000067663
AA Change: I163N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071054
Gene: ENSMUSG00000002102
AA Change: I163N

DomainStartEndE-ValueType
AAA 222 361 6.65e-22 SMART
Blast:AAA 390 436 9e-20 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000111441
AA Change: I121N

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107068
Gene: ENSMUSG00000002102
AA Change: I121N

DomainStartEndE-ValueType
AAA 180 319 6.65e-22 SMART
Blast:AAA 348 394 8e-20 BLAST
Predicted Effect
SMART Domains Protein: ENSMUSP00000121688
Gene: ENSMUSG00000002102
AA Change: I145N

DomainStartEndE-ValueType
PDB:4CR4|M 13 183 2e-69 PDB
Blast:AAA 140 183 1e-20 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000185715
AA Change: I144N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139782
Gene: ENSMUSG00000002102
AA Change: I144N

DomainStartEndE-ValueType
AAA 203 301 9e-14 SMART
Meta Mutation Damage Score 0.9529 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (64/65)
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 that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T A 12: 72,956,795 (GRCm39) T132S possibly damaging Het
4933412E24Rik A G 15: 59,887,738 (GRCm39) V234A probably benign Het
Abtb3 T A 10: 85,490,346 (GRCm39) L1004Q probably damaging Het
Acsm5 A G 7: 119,136,511 (GRCm39) T361A possibly damaging Het
Agxt2 G A 15: 10,358,753 (GRCm39) R24H probably benign Het
Asb16 G T 11: 102,159,935 (GRCm39) W96L probably damaging Het
Bche T A 3: 73,607,969 (GRCm39) T486S probably benign Het
Bpnt2 C A 4: 4,792,962 (GRCm39) G48W probably damaging Het
Cast T C 13: 74,875,453 (GRCm39) T382A probably benign Het
Cdcp1 T A 9: 123,014,119 (GRCm39) K218N possibly damaging Het
Ceacam18 G A 7: 43,291,308 (GRCm39) G250D probably damaging Het
Ciao3 T A 17: 25,994,108 (GRCm39) V52E possibly damaging Het
Ctnnd2 T C 15: 30,905,855 (GRCm39) I834T possibly damaging Het
Cyp11b2 C A 15: 74,725,840 (GRCm39) G136W probably damaging Het
Dis3 A G 14: 99,324,925 (GRCm39) V502A probably damaging Het
Dnai2 T A 11: 114,648,054 (GRCm39) M610K unknown Het
Drosha G A 15: 12,846,169 (GRCm39) V435I possibly damaging Het
Dsc2 T A 18: 20,184,236 (GRCm39) R51* probably null Het
Ergic2 A T 6: 148,096,757 (GRCm39) C170S probably damaging Het
Exoc7 A T 11: 116,195,688 (GRCm39) probably null Het
Fbxw25 G T 9: 109,483,660 (GRCm39) A184E Het
Gm4846 T A 1: 166,314,648 (GRCm39) T332S probably benign Het
Greb1l T A 18: 10,544,561 (GRCm39) M1385K probably benign Het
Grik1 T C 16: 87,709,708 (GRCm39) N871S probably benign Het
Il11ra1 T C 4: 41,765,109 (GRCm39) L145P probably damaging Het
Inpp5e A G 2: 26,298,104 (GRCm39) S166P probably benign Het
Kdm4b T A 17: 56,703,333 (GRCm39) L676H probably damaging Het
Lrp2 T A 2: 69,289,875 (GRCm39) K3655* probably null Het
Lrrc74a A G 12: 86,787,753 (GRCm39) N128S probably damaging Het
Map3k14 T C 11: 103,117,848 (GRCm39) E648G probably damaging Het
Mbtps1 A T 8: 120,269,489 (GRCm39) D200E probably benign Het
Mttp T C 3: 137,829,546 (GRCm39) D114G probably benign Het
Mup13 G A 4: 61,182,752 (GRCm39) T101M probably benign Het
Neb T A 2: 52,096,956 (GRCm39) T4953S probably benign Het
Nfasc A C 1: 132,562,001 (GRCm39) L147R probably damaging Het
Obox6 T C 7: 15,567,805 (GRCm39) E214G probably benign Het
Opn3 T C 1: 175,493,039 (GRCm39) N175S probably damaging Het
Or1j12 A T 2: 36,342,851 (GRCm39) M85L probably benign Het
Or8g22 T A 9: 38,958,815 (GRCm39) probably benign Het
Or8k22 C A 2: 86,163,136 (GRCm39) C188F possibly damaging Het
Osbpl3 G T 6: 50,323,410 (GRCm39) D224E probably benign Het
Osr2 A G 15: 35,301,032 (GRCm39) D196G probably damaging Het
Pde8b T A 13: 95,179,442 (GRCm39) N405Y probably damaging Het
Pirb A G 7: 3,719,177 (GRCm39) S571P probably benign Het
Rapgef4 A G 2: 72,038,445 (GRCm39) D532G probably damaging Het
Retreg1 A G 15: 25,971,684 (GRCm39) D208G probably benign Het
Rgsl1 T G 1: 153,679,876 (GRCm39) probably null Het
Ripk4 T C 16: 97,545,157 (GRCm39) T497A probably benign Het
Slc30a2 T A 4: 134,076,581 (GRCm39) probably null Het
Slc6a19 T C 13: 73,834,197 (GRCm39) D335G probably benign Het
Slco4c1 G A 1: 96,799,497 (GRCm39) T113M probably benign Het
Speer1c T C 5: 10,295,192 (GRCm39) N71D Het
Stxbp6 A G 12: 44,948,786 (GRCm39) F108L probably benign Het
Sulf1 T A 1: 12,921,189 (GRCm39) probably null Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Tbc1d19 T A 5: 54,029,618 (GRCm39) D326E probably damaging Het
Trappc14 T C 5: 138,261,839 (GRCm39) S86G probably benign Het
Trgv3 A G 13: 19,427,188 (GRCm39) T24A probably benign Het
Trpm3 T A 19: 22,956,048 (GRCm39) M1170K possibly damaging Het
Tubgcp6 G A 15: 88,987,146 (GRCm39) Q1276* probably null Het
Tyrp1 A G 4: 80,755,821 (GRCm39) K197E possibly damaging Het
Ube3d T C 9: 86,322,679 (GRCm39) D165G probably damaging Het
Zfp212 A G 6: 47,897,678 (GRCm39) T7A probably benign Het
Zhx1 T C 15: 57,917,758 (GRCm39) T163A probably benign Het
Zp2 A T 7: 119,734,576 (GRCm39) probably null Het
Other mutations in Psmc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
E0370:Psmc3 UTSW 2 90,885,463 (GRCm39) splice site probably null
R0747:Psmc3 UTSW 2 90,884,645 (GRCm39) missense probably benign 0.10
R1182:Psmc3 UTSW 2 90,886,380 (GRCm39) missense probably damaging 1.00
R1763:Psmc3 UTSW 2 90,886,340 (GRCm39) missense possibly damaging 0.81
R1967:Psmc3 UTSW 2 90,888,189 (GRCm39) missense probably benign 0.19
R2056:Psmc3 UTSW 2 90,888,433 (GRCm39) missense probably benign 0.40
R2484:Psmc3 UTSW 2 90,886,346 (GRCm39) missense probably damaging 0.97
R3411:Psmc3 UTSW 2 90,886,263 (GRCm39) missense probably damaging 1.00
R3608:Psmc3 UTSW 2 90,884,925 (GRCm39) missense probably benign 0.00
R4917:Psmc3 UTSW 2 90,896,317 (GRCm39) unclassified probably benign
R4954:Psmc3 UTSW 2 90,885,974 (GRCm39) intron probably benign
R5033:Psmc3 UTSW 2 90,884,953 (GRCm39) missense probably benign 0.03
R5073:Psmc3 UTSW 2 90,884,915 (GRCm39) splice site probably benign
R5279:Psmc3 UTSW 2 90,884,667 (GRCm39) missense probably benign
R5354:Psmc3 UTSW 2 90,889,698 (GRCm39) missense probably damaging 1.00
R6169:Psmc3 UTSW 2 90,888,184 (GRCm39) missense probably damaging 1.00
R6224:Psmc3 UTSW 2 90,884,975 (GRCm39) missense probably damaging 1.00
R7039:Psmc3 UTSW 2 90,885,391 (GRCm39) missense probably benign 0.32
R7962:Psmc3 UTSW 2 90,887,007 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- ACCTGGTGGTGAGTGATACC -3'
(R):5'- GTAAGGGAATACACTCTGGTCAG -3'

Sequencing Primer
(F):5'- AGGGATTCTCCAGTAAGCTGC -3'
(R):5'- GGAATACACTCTGGTCAGTTAGATG -3'
Posted On 2019-06-26