Incidental Mutation 'R6527:Psmd12'
ID 522009
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 044653-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R6527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 107370354-107388862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107379794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 116 (I116V)
Ref Sequence ENSEMBL: ENSMUSP00000102361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021063] [ENSMUST00000106750] [ENSMUST00000106752]
AlphaFold Q9D8W5
Predicted Effect possibly damaging
Transcript: ENSMUST00000021063
AA Change: I136V

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: I136V

DomainStartEndE-ValueType
PINT 349 435 3.24e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106750
AA Change: I116V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: I116V

DomainStartEndE-ValueType
PINT 329 415 3.24e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106752
AA Change: I136V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: I136V

DomainStartEndE-ValueType
Pfam:PCI 300 398 1.3e-15 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,288 (GRCm39) T826A probably damaging Het
Abca16 T A 7: 120,076,995 (GRCm39) I686N possibly damaging Het
Abcb6 T C 1: 75,154,132 (GRCm39) probably null Het
Adgrl3 A C 5: 81,935,364 (GRCm39) E1299A probably damaging Het
Amd2 A C 10: 35,586,802 (GRCm39) Y252D probably damaging Het
Cfap74 A G 4: 155,506,722 (GRCm39) probably null Het
Dhx29 G T 13: 113,069,076 (GRCm39) K135N probably damaging Het
Dlg5 T A 14: 24,240,516 (GRCm39) D245V possibly damaging Het
Dscaml1 C T 9: 45,623,482 (GRCm39) Q83* probably null Het
Dsp T A 13: 38,379,849 (GRCm39) L1599Q probably damaging Het
Duox2 A G 2: 122,125,095 (GRCm39) V369A probably benign Het
Flacc1 T C 1: 58,731,572 (GRCm39) M1V probably null Het
Gbe1 T A 16: 70,230,560 (GRCm39) probably null Het
Gm7298 A G 6: 121,746,669 (GRCm39) K600R probably benign Het
Heatr4 C T 12: 84,026,537 (GRCm39) G240E probably damaging Het
Jakmip2 A G 18: 43,689,589 (GRCm39) V651A possibly damaging Het
Jam3 C T 9: 27,066,640 (GRCm39) R8Q unknown Het
Letm2 A G 8: 26,082,522 (GRCm39) probably benign Het
Lmod3 T C 6: 97,224,339 (GRCm39) D494G probably benign Het
Mast2 T C 4: 116,172,136 (GRCm39) D604G probably damaging Het
Mif4gd C T 11: 115,500,101 (GRCm39) probably null Het
Msr1 T C 8: 40,077,274 (GRCm39) E112G possibly damaging Het
Mtus2 A G 5: 148,214,408 (GRCm39) probably null Het
Muc4 A G 16: 32,753,433 (GRCm38) H1103R probably benign Het
Nudt14 T A 12: 112,898,507 (GRCm39) I198F possibly damaging Het
Or11j4 T A 14: 50,630,885 (GRCm39) L224* probably null Het
Or13p3 T A 4: 118,567,045 (GRCm39) F147Y possibly damaging Het
Or1n1b T C 2: 36,780,594 (GRCm39) T89A probably benign Het
Osbpl8 T C 10: 111,129,066 (GRCm39) I884T probably benign Het
Podxl2 T C 6: 88,819,912 (GRCm39) N550S probably damaging Het
Ppp1r9a A G 6: 5,045,949 (GRCm39) Y151C probably damaging Het
Prss42 T C 9: 110,629,924 (GRCm39) V226A possibly damaging Het
Psme4 A C 11: 30,782,175 (GRCm39) I872L probably benign Het
Rab11fip1 A T 8: 27,664,420 (GRCm39) V65E probably damaging Het
Ros1 T C 10: 52,019,473 (GRCm39) N700S possibly damaging Het
Slc15a4 G A 5: 127,673,773 (GRCm39) T547M probably damaging Het
Slfn3 T A 11: 83,103,932 (GRCm39) C268S probably benign Het
Smc5 T C 19: 23,205,554 (GRCm39) Q794R probably benign Het
Sqor A G 2: 122,651,206 (GRCm39) Y434C probably damaging Het
Steap4 T A 5: 8,028,502 (GRCm39) L360H probably damaging Het
Sycp1 A G 3: 102,806,203 (GRCm39) V496A probably benign Het
Tmem161b T G 13: 84,420,383 (GRCm39) M128R probably benign Het
Tmem59l T C 8: 70,938,775 (GRCm39) E102G probably damaging Het
Tnks A T 8: 35,340,247 (GRCm39) V457D probably benign Het
Tomt A G 7: 101,549,599 (GRCm39) Y230H probably damaging Het
Trim37 A G 11: 87,080,910 (GRCm39) N561D probably damaging Het
V1ra8 T A 6: 90,180,295 (GRCm39) I166K probably damaging Het
Vmn1r56 A G 7: 5,199,575 (GRCm39) V14A probably benign Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwa8 A T 14: 79,184,653 (GRCm39) S384C possibly damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp984 T C 4: 147,840,381 (GRCm39) N157D probably benign Het
Zzef1 G A 11: 72,765,816 (GRCm39) D1448N 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
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
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
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'- AGTCCTGTTACTTGGGGTCT -3'
(R):5'- TGTGCTGTGTACATGCTCACT -3'

Sequencing Primer
(F):5'- TGGGATCCAAATTGCAGTCC -3'
(R):5'- GTACATGCTCACTCTTGTTAACGTAG -3'
Posted On 2018-06-06