Incidental Mutation 'R1457:Psmd12'
ID 158597
Institutional Source Beutler Lab
Gene Symbol Psmd12
Ensembl Gene ENSMUSG00000020720
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
Synonyms 1500002F15Rik, P55
MMRRC Submission 039512-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1457 (G1)
Quality Score 184
Status Not validated
Chromosome 11
Chromosomal Location 107479484-107504362 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107479646 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 24 (V24M)
Ref Sequence ENSEMBL: ENSMUSP00000102363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021063] [ENSMUST00000106750] [ENSMUST00000106752]
AlphaFold Q9D8W5
Predicted Effect probably damaging
Transcript: ENSMUST00000021063
AA Change: V24M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: V24M

PINT 349 435 3.24e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106750
AA Change: V24M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: V24M

PINT 329 415 3.24e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106752
AA Change: V24M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: V24M

Pfam:PCI 300 398 1.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138702
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.3%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik A T 1: 37,626,012 (GRCm38) Y268* probably null Het
Abca14 A T 7: 120,289,460 (GRCm38) I1210F probably benign Het
Ankrd17 T C 5: 90,285,846 (GRCm38) H688R possibly damaging Het
Arhgap24 T A 5: 102,664,106 (GRCm38) N66K probably damaging Het
Atp1a1 C T 3: 101,590,466 (GRCm38) G335D probably damaging Het
Cacna1g C T 11: 94,459,555 (GRCm38) R488H possibly damaging Het
Cacna1h A T 17: 25,397,620 (GRCm38) V149E probably damaging Het
Cd22 G T 7: 30,873,170 (GRCm38) P338Q probably benign Het
Cntln G T 4: 85,096,839 (GRCm38) M1122I probably benign Het
Cntrl A G 2: 35,122,756 (GRCm38) N302S probably benign Het
Cog8 T C 8: 107,052,896 (GRCm38) R250G probably damaging Het
Creld2 T C 15: 88,823,753 (GRCm38) C232R probably damaging Het
Cyp2b23 G A 7: 26,673,149 (GRCm38) P347L probably damaging Het
Dnah5 T C 15: 28,403,542 (GRCm38) probably null Het
Eml6 C T 11: 30,024,459 (GRCm38) V40I probably damaging Het
Epb42 C T 2: 121,029,967 (GRCm38) probably null Het
Fcrla A G 1: 170,921,004 (GRCm38) L190P probably damaging Het
Galnt18 A T 7: 111,779,428 (GRCm38) Y40* probably null Het
Gdf7 A T 12: 8,298,073 (GRCm38) M416K probably damaging Het
Gm11232 T A 4: 71,756,919 (GRCm38) probably null Het
Gpam T A 19: 55,088,176 (GRCm38) N198Y probably damaging Het
Grip1 C T 10: 119,986,350 (GRCm38) S327F possibly damaging Het
Hey2 C T 10: 30,834,356 (GRCm38) A134T probably benign Het
Kat6a T C 8: 22,938,652 (GRCm38) I1341T probably benign Het
Kcnd3 T C 3: 105,668,186 (GRCm38) L542P probably benign Het
Lars G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Lman2 T C 13: 55,351,251 (GRCm38) D234G probably benign Het
Map3k19 A C 1: 127,817,898 (GRCm38) I1273R probably damaging Het
Matn1 T A 4: 130,950,019 (GRCm38) F180I possibly damaging Het
Meikin T A 11: 54,370,941 (GRCm38) L61* probably null Het
Mroh2b G T 15: 4,925,684 (GRCm38) D720Y probably damaging Het
Myh13 T C 11: 67,331,046 (GRCm38) I199T probably damaging Het
Myh4 T A 11: 67,248,461 (GRCm38) S535T probably damaging Het
Myo5a T C 9: 75,213,065 (GRCm38) M1715T probably damaging Het
Nat8 A T 6: 85,830,989 (GRCm38) V54D probably damaging Het
Nbea A G 3: 56,085,327 (GRCm38) V286A probably damaging Het
Ndnf A G 6: 65,704,014 (GRCm38) K426E possibly damaging Het
Nup210l T A 3: 90,190,972 (GRCm38) N1410K possibly damaging Het
Oca2 A T 7: 56,321,521 (GRCm38) T399S probably damaging Het
Olfr1045 A G 2: 86,198,252 (GRCm38) S167P probably damaging Het
Olfr118 A T 17: 37,672,925 (GRCm38) K301* probably null Het
Olfr250 G A 9: 38,368,196 (GRCm38) V217I probably benign Het
Olfr366 A C 2: 37,219,659 (GRCm38) T57P possibly damaging Het
Olfr644 A T 7: 104,068,459 (GRCm38) C191S probably damaging Het
Olfr652 T A 7: 104,565,071 (GRCm38) N283K probably damaging Het
Otogl A C 10: 107,878,152 (GRCm38) probably null Het
Pde4b C T 4: 102,605,176 (GRCm38) T511I probably damaging Het
Proser3 A G 7: 30,539,747 (GRCm38) probably null Het
Rbm17 A T 2: 11,593,461 (GRCm38) M170K probably benign Het
Rims2 C T 15: 39,511,314 (GRCm38) T1064I possibly damaging Het
Ripor3 C T 2: 167,992,653 (GRCm38) V281M probably damaging Het
Rreb1 C A 13: 37,946,928 (GRCm38) Q1353K possibly damaging Het
Sgo2a A G 1: 58,015,806 (GRCm38) D383G probably benign Het
Sik3 C T 9: 46,221,148 (GRCm38) T1346M probably damaging Het
Slx1b A T 7: 126,692,796 (GRCm38) V63E probably damaging Het
Son A G 16: 91,657,086 (GRCm38) D907G probably damaging Het
Src G A 2: 157,469,212 (GRCm38) V401M probably damaging Het
St3gal4 T C 9: 35,054,757 (GRCm38) K24E possibly damaging Het
Stat6 A G 10: 127,658,245 (GRCm38) K647R probably damaging Het
Tbl1xr1 G A 3: 22,193,169 (GRCm38) probably null Het
Tlk2 G A 11: 105,256,952 (GRCm38) probably null Het
Tmbim6 T A 15: 99,401,615 (GRCm38) I3K probably benign Het
Tmeff2 A T 1: 51,181,867 (GRCm38) I334F probably damaging Het
Ttn T C 2: 76,840,315 (GRCm38) probably null Het
Ubl7 T A 9: 57,914,611 (GRCm38) I81N probably damaging Het
Ugt1a10 A G 1: 88,055,711 (GRCm38) Y77C probably damaging Het
Uqcrfs1 A G 13: 30,540,907 (GRCm38) C217R probably damaging Het
Usp50 T C 2: 126,761,634 (GRCm38) T331A probably benign Het
Vmn1r65 A G 7: 6,009,157 (GRCm38) V26A probably benign Het
Wdfy3 A C 5: 101,917,579 (GRCm38) V1241G possibly damaging Het
Wtap A C 17: 12,981,744 (GRCm38) probably null Het
Zbtb40 C A 4: 136,984,837 (GRCm38) A1187S possibly damaging Het
Zfp57 T C 17: 37,006,098 (GRCm38) S20P probably damaging Het
Zfp592 A G 7: 81,024,479 (GRCm38) D397G probably damaging Het
Zfp747 A T 7: 127,374,504 (GRCm38) S165T probably benign Het
Zfp949 C T 9: 88,569,838 (GRCm38) T487I probably damaging Het
Zscan4d A G 7: 11,164,994 (GRCm38) C119R probably damaging Het
Other mutations in Psmd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03002:Psmd12 APN 11 107,485,781 (GRCm38) missense probably benign 0.00
R0384:Psmd12 UTSW 11 107,485,721 (GRCm38) missense probably benign 0.00
R1661:Psmd12 UTSW 11 107,491,906 (GRCm38) missense probably damaging 1.00
R2443:Psmd12 UTSW 11 107,495,737 (GRCm38) missense probably damaging 1.00
R3806:Psmd12 UTSW 11 107,495,765 (GRCm38) missense probably benign 0.03
R3807:Psmd12 UTSW 11 107,495,765 (GRCm38) missense probably benign 0.03
R3840:Psmd12 UTSW 11 107,485,572 (GRCm38) missense probably benign 0.02
R4212:Psmd12 UTSW 11 107,485,759 (GRCm38) missense probably damaging 1.00
R4718:Psmd12 UTSW 11 107,486,433 (GRCm38) missense probably benign 0.15
R5182:Psmd12 UTSW 11 107,479,659 (GRCm38) missense probably damaging 1.00
R5586:Psmd12 UTSW 11 107,486,475 (GRCm38) missense probably benign 0.35
R6171:Psmd12 UTSW 11 107,491,907 (GRCm38) missense probably damaging 0.96
R6444:Psmd12 UTSW 11 107,486,454 (GRCm38) missense possibly damaging 0.55
R6527:Psmd12 UTSW 11 107,488,968 (GRCm38) missense probably damaging 0.96
R7276:Psmd12 UTSW 11 107,503,645 (GRCm38) nonsense probably null
R7466:Psmd12 UTSW 11 107,492,057 (GRCm38) missense probably benign 0.03
R7751:Psmd12 UTSW 11 107,479,613 (GRCm38) missense possibly damaging 0.68
R7779:Psmd12 UTSW 11 107,497,579 (GRCm38) missense probably benign 0.01
R8373:Psmd12 UTSW 11 107,497,624 (GRCm38) missense probably damaging 0.98
R9057:Psmd12 UTSW 11 107,486,502 (GRCm38) missense probably null 0.99
Z1177:Psmd12 UTSW 11 107,485,557 (GRCm38) missense probably benign 0.39
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-14