Incidental Mutation 'R4212:Psmd12'
ID 319260
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 041641-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R4212 (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 C at 107376585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 74 (C74R)
Ref Sequence ENSEMBL: ENSMUSP00000021063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021063] [ENSMUST00000106750] [ENSMUST00000106752]
AlphaFold Q9D8W5
Predicted Effect probably damaging
Transcript: ENSMUST00000021063
AA Change: C74R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: C74R

DomainStartEndE-ValueType
PINT 349 435 3.24e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106750
AA Change: C54R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: C54R

DomainStartEndE-ValueType
PINT 329 415 3.24e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106752
AA Change: C74R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: C74R

DomainStartEndE-ValueType
Pfam:PCI 300 398 1.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138702
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,791,585 (GRCm39) L284M possibly damaging Het
Adamts15 A G 9: 30,817,470 (GRCm39) V536A probably damaging Het
Arsi A T 18: 61,049,773 (GRCm39) I219F probably damaging Het
Atg7 G A 6: 114,680,386 (GRCm39) G447E probably benign Het
Bdp1 T A 13: 100,196,093 (GRCm39) H1223L probably benign Het
Cep152 A G 2: 125,461,921 (GRCm39) M87T probably benign Het
Chrm3 T C 13: 9,927,791 (GRCm39) D415G probably benign Het
Chrnb2 A T 3: 89,668,851 (GRCm39) C155S probably damaging Het
Col6a4 T A 9: 105,952,569 (GRCm39) Q443L probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
D5Ertd579e A T 5: 36,771,823 (GRCm39) D857E probably damaging Het
Efcab6 T C 15: 83,777,064 (GRCm39) D1124G probably damaging Het
F830045P16Rik C T 2: 129,302,273 (GRCm39) A440T probably benign Het
Gc T C 5: 89,583,434 (GRCm39) K370E probably benign Het
Gm11559 A G 11: 99,755,726 (GRCm39) Q125R unknown Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gucy2e A G 11: 69,118,949 (GRCm39) F681S probably damaging Het
Hip1r A G 5: 124,137,953 (GRCm39) I760V probably benign Het
Islr2 C T 9: 58,106,603 (GRCm39) G219D probably damaging Het
Itgae A G 11: 73,010,178 (GRCm39) H556R probably benign Het
Jag1 T C 2: 136,926,990 (GRCm39) D923G probably benign Het
Kmt2c A G 5: 25,552,357 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,884 (GRCm39) probably benign Het
Krtap17-1 A G 11: 99,884,740 (GRCm39) L9P unknown Het
Lats2 C T 14: 57,933,712 (GRCm39) D802N possibly damaging Het
Lrfn5 A T 12: 61,890,606 (GRCm39) T632S probably benign Het
Myo9a C T 9: 59,813,349 (GRCm39) R2183* probably null Het
Myorg T C 4: 41,498,307 (GRCm39) E441G probably benign Het
Naip1 T C 13: 100,563,383 (GRCm39) probably null Het
Nf1 T A 11: 79,360,624 (GRCm39) V1434E probably damaging Het
Nlrc4 T C 17: 74,754,110 (GRCm39) Y91C possibly damaging Het
Or4l1 A T 14: 50,166,346 (GRCm39) Y218* probably null Het
Or5b102 T G 19: 13,041,123 (GRCm39) M116R probably damaging Het
Or5k1 T A 16: 58,617,732 (GRCm39) H159L possibly damaging Het
Pard3 T A 8: 128,336,939 (GRCm39) I1143K probably benign Het
Pcdha7 A G 18: 37,108,027 (GRCm39) T351A probably benign Het
Phf2 C A 13: 48,974,089 (GRCm39) G318V unknown Het
Plch1 T A 3: 63,778,180 (GRCm39) probably benign Het
Polr1c A G 17: 46,557,046 (GRCm39) I79T probably damaging Het
Ppp2r5e A G 12: 75,516,325 (GRCm39) I244T probably damaging Het
Qng1 C T 13: 58,529,805 (GRCm39) G269E probably damaging Het
Ralgapa1 A G 12: 55,786,115 (GRCm39) probably null Het
Robo3 C T 9: 37,333,194 (GRCm39) G781D probably damaging Het
Scn8a T C 15: 100,854,954 (GRCm39) V147A possibly damaging Het
Sema3b C T 9: 107,480,597 (GRCm39) V117M probably damaging Het
Sfxn5 A T 6: 85,309,288 (GRCm39) L139* probably null Het
Slc2a12 A T 10: 22,577,993 (GRCm39) K596N probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Spata31e4 C T 13: 50,854,388 (GRCm39) T82I possibly damaging Het
Tlr4 T A 4: 66,758,563 (GRCm39) I452N probably damaging Het
Tshz3 A G 7: 36,469,544 (GRCm39) D511G probably damaging Het
Usp44 A G 10: 93,682,632 (GRCm39) K314E possibly damaging 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
R3806:Psmd12 UTSW 11 107,386,591 (GRCm39) missense probably benign 0.03
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
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'- AGAAGTCATCGAAACCCTTCTCTC -3'
(R):5'- TGGGAACAGCTGAAACATTGTAATG -3'

Sequencing Primer
(F):5'- TTCTCTCTCTAGAAAAGCAGACCCG -3'
(R):5'- TCAGAAGATACCTTGCAGGCGTC -3'
Posted On 2015-06-10