Incidental Mutation 'R3806:Psmd12'
ID 274614
Institutional Source Beutler Lab
Gene Symbol Psmd12
Ensembl Gene ENSMUSG00000020720
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
Synonyms P55, 1500002F15Rik
MMRRC Submission 040763-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R3806 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 107370354-107388862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107386591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 387 (D387E)
Ref Sequence ENSEMBL: ENSMUSP00000102363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021063] [ENSMUST00000106750] [ENSMUST00000106752]
AlphaFold Q9D8W5
Predicted Effect probably benign
Transcript: ENSMUST00000021063
AA Change: D387E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: D387E

DomainStartEndE-ValueType
PINT 349 435 3.24e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106750
AA Change: D367E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: D367E

DomainStartEndE-ValueType
PINT 329 415 3.24e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106752
AA Change: D387E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: D387E

DomainStartEndE-ValueType
Pfam:PCI 300 398 1.3e-15 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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 a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap9 A G 5: 4,004,410 (GRCm39) N108S probably benign Het
Ankmy1 A G 1: 92,811,480 (GRCm39) I636T possibly damaging Het
Bbs9 T A 9: 22,798,926 (GRCm39) D851E probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Ccdc175 T C 12: 72,227,598 (GRCm39) T62A possibly damaging Het
Cfhr4 T A 1: 139,680,773 (GRCm39) K248N probably damaging Het
Clcnka T C 4: 141,114,601 (GRCm39) E615G probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cpxm2 C T 7: 131,681,820 (GRCm39) M236I probably benign Het
Dhrs2 A T 14: 55,472,205 (GRCm39) N32I probably benign Het
Fam131a G A 16: 20,514,608 (GRCm39) V70M probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbxl15 G C 19: 46,317,891 (GRCm39) R191P possibly damaging Het
Fcrlb T C 1: 170,735,183 (GRCm39) T315A probably benign Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Gem C T 4: 11,705,965 (GRCm39) Q18* probably null Het
Hemk1 T A 9: 107,214,229 (GRCm39) I68F probably damaging Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Ighv5-17 C A 12: 113,822,918 (GRCm39) A68S probably benign Het
Ip6k3 T C 17: 27,363,974 (GRCm39) H358R probably damaging Het
Itpr2 T C 6: 146,133,789 (GRCm39) probably null Het
Kmt2a C T 9: 44,731,653 (GRCm39) probably benign Het
Krt16 G T 11: 100,139,566 (GRCm39) R51S unknown Het
Lamtor1 G A 7: 101,560,552 (GRCm39) V156I probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Maco1 C T 4: 134,557,891 (GRCm39) M207I probably benign Het
Man1c1 A T 4: 134,430,662 (GRCm39) L40Q probably damaging Het
Mgat4c A G 10: 102,224,221 (GRCm39) N145S probably benign Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Muc5ac T C 7: 141,367,471 (GRCm39) I2964T possibly damaging Het
Naip2 T A 13: 100,289,142 (GRCm39) Q1196L possibly damaging Het
Nbas G A 12: 13,532,505 (GRCm39) G1738S probably damaging Het
Nlrp5 A G 7: 23,104,271 (GRCm39) E44G probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or5d18 A G 2: 87,864,911 (GRCm39) S191P possibly damaging Het
Otof T A 5: 30,543,843 (GRCm39) probably null Het
Pcdha2 G A 18: 37,072,582 (GRCm39) R71H probably benign Het
Pcdha2 G T 18: 37,074,744 (GRCm39) E792* probably null Het
Pcnx1 A G 12: 81,996,911 (GRCm39) T936A possibly damaging Het
Pofut2 T C 10: 77,096,640 (GRCm39) Y122H probably damaging Het
Psg16 A G 7: 16,824,609 (GRCm39) E131G probably benign Het
Rab6a A G 7: 100,257,431 (GRCm39) M1V probably null Het
Ripk3 T C 14: 56,023,725 (GRCm39) R29G probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Ruvbl2 A G 7: 45,071,614 (GRCm39) V423A possibly damaging Het
Rxylt1 A T 10: 121,917,514 (GRCm39) V333E possibly damaging Het
Scgb2b18 T G 7: 32,872,563 (GRCm39) M81L probably benign Het
Slc24a2 A T 4: 87,146,021 (GRCm39) L11H possibly damaging Het
Slc4a1 T C 11: 102,248,019 (GRCm39) E325G probably benign Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Them6 A G 15: 74,593,367 (GRCm39) D75G probably damaging Het
Tnrc18 G A 5: 142,773,029 (GRCm39) A417V unknown Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zbtb22 C T 17: 34,135,920 (GRCm39) probably benign Het
Zfp235 A G 7: 23,840,046 (GRCm39) D225G probably benign Het
Other mutations in Psmd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03002:Psmd12 APN 11 107,376,607 (GRCm39) missense probably benign 0.00
R0384:Psmd12 UTSW 11 107,376,547 (GRCm39) missense probably benign 0.00
R1457:Psmd12 UTSW 11 107,370,472 (GRCm39) missense probably damaging 1.00
R1661:Psmd12 UTSW 11 107,382,732 (GRCm39) missense probably damaging 1.00
R2443:Psmd12 UTSW 11 107,386,563 (GRCm39) missense probably damaging 1.00
R3807:Psmd12 UTSW 11 107,386,591 (GRCm39) missense probably benign 0.03
R3840:Psmd12 UTSW 11 107,376,398 (GRCm39) missense probably benign 0.02
R4212:Psmd12 UTSW 11 107,376,585 (GRCm39) missense probably damaging 1.00
R4718:Psmd12 UTSW 11 107,377,259 (GRCm39) missense probably benign 0.15
R5182:Psmd12 UTSW 11 107,370,485 (GRCm39) missense probably damaging 1.00
R5586:Psmd12 UTSW 11 107,377,301 (GRCm39) missense probably benign 0.35
R6171:Psmd12 UTSW 11 107,382,733 (GRCm39) missense probably damaging 0.96
R6444:Psmd12 UTSW 11 107,377,280 (GRCm39) missense possibly damaging 0.55
R6527:Psmd12 UTSW 11 107,379,794 (GRCm39) missense probably damaging 0.96
R7276:Psmd12 UTSW 11 107,394,471 (GRCm39) nonsense probably null
R7466:Psmd12 UTSW 11 107,382,883 (GRCm39) missense probably benign 0.03
R7751:Psmd12 UTSW 11 107,370,439 (GRCm39) missense possibly damaging 0.68
R7779:Psmd12 UTSW 11 107,388,405 (GRCm39) missense probably benign 0.01
R8373:Psmd12 UTSW 11 107,388,450 (GRCm39) missense probably damaging 0.98
R9057:Psmd12 UTSW 11 107,377,328 (GRCm39) missense probably null 0.99
Z1177:Psmd12 UTSW 11 107,376,383 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- GCCAGTCTTTATACCTCAGGGG -3'
(R):5'- AGACCTTTCAGTGAAGGTCTG -3'

Sequencing Primer
(F):5'- TTTTTCTTTTGAGATTTAAACCCAGC -3'
(R):5'- CCTTTCAGTGAAGGTCTGATTAGCAC -3'
Posted On 2015-04-02