Incidental Mutation 'R5443:Psmd1'
ID 427252
Institutional Source Beutler Lab
Gene Symbol Psmd1
Ensembl Gene ENSMUSG00000026229
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 1
Synonyms P112, S1
MMRRC Submission 043008-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5443 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 85992341-86067017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86017905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 572 (R572H)
Ref Sequence ENSEMBL: ENSMUSP00000027432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027432] [ENSMUST00000139715]
AlphaFold Q3TXS7
Predicted Effect probably damaging
Transcript: ENSMUST00000027432
AA Change: R572H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: R572H

DomainStartEndE-ValueType
Pfam:PC_rep 441 474 5.1e-9 PFAM
Pfam:PC_rep 476 510 8.4e-8 PFAM
Pfam:PC_rep 511 545 1.1e-7 PFAM
Pfam:HEAT_2 599 693 3.3e-15 PFAM
Pfam:PC_rep 651 685 1.1e-11 PFAM
low complexity region 818 828 N/A INTRINSIC
low complexity region 837 872 N/A INTRINSIC
low complexity region 936 949 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104086
Predicted Effect probably benign
Transcript: ENSMUST00000139715
Meta Mutation Damage Score 0.1212 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.9%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: In eukaryotic cells, most proteins in the cytosol and nucleus are degraded via the ubiquitin-proteasome pathway. The 26S proteasome is a self-compartmentalizing protease comprised of approximately 31 different subunits. It contains a barrel-shaped proteolytic core complex (the 20S proteasome), capped at one or both ends by 19S regulatory complexes, which recognize ubiquitinated proteins. Protein degradation by proteasomes is the source of most antigenic peptides presented on MHC class I molecules. This gene encodes a non-ATPase subunit of the 26S proteasome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,305,576 (GRCm39) E795D probably damaging Het
Aldh6a1 T C 12: 84,484,745 (GRCm39) probably null Het
Aox4 A G 1: 58,273,151 (GRCm39) probably null Het
Arhgap39 G A 15: 76,682,125 (GRCm39) probably benign Het
AW551984 T C 9: 39,509,325 (GRCm39) E272G possibly damaging Het
C1qc G A 4: 136,619,804 (GRCm39) probably benign Het
Carhsp1 C A 16: 8,482,203 (GRCm39) R26L probably benign Het
Cdh12 G T 15: 21,237,935 (GRCm39) V57L probably benign Het
Cfap298 G T 16: 90,724,099 (GRCm39) Q168K probably benign Het
Clec3a A G 8: 115,144,893 (GRCm39) Y23C probably benign Het
Crebrf G C 17: 26,961,328 (GRCm39) V150L probably damaging Het
Ddx41 G T 13: 55,683,104 (GRCm39) A201E probably benign Het
Doc2b T C 11: 75,670,921 (GRCm39) K237E probably damaging Het
Dst T C 1: 34,267,620 (GRCm39) S5199P probably damaging Het
Efnb2 A G 8: 8,670,862 (GRCm39) I129T probably damaging Het
Epg5 A G 18: 78,070,712 (GRCm39) E2329G possibly damaging Het
Esrrg A C 1: 187,775,622 (GRCm39) T27P possibly damaging Het
Fah T A 7: 84,241,604 (GRCm39) R316W probably damaging Het
Fat4 T C 3: 39,064,519 (GRCm39) L4825P probably damaging Het
Gabbr1 T C 17: 37,381,648 (GRCm39) V804A probably damaging Het
Gm1322 G A 2: 67,015,012 (GRCm39) noncoding transcript Het
Gm5114 T A 7: 39,058,289 (GRCm39) K443N probably benign Het
Gnai2 T C 9: 107,497,386 (GRCm39) I3V probably damaging Het
Gp2 G A 7: 119,053,821 (GRCm39) P47S possibly damaging Het
Klf15 C A 6: 90,444,342 (GRCm39) Q306K possibly damaging Het
Ly6a2 A T 15: 75,005,568 (GRCm39) noncoding transcript Het
Maco1 A T 4: 134,560,619 (GRCm39) C121* probably null Het
Necab2 A T 8: 120,195,032 (GRCm39) M295L probably benign Het
Nrg1 A T 8: 32,339,348 (GRCm39) Y208N probably damaging Het
Nup88 A T 11: 70,849,256 (GRCm39) Y232* probably null Het
Oacyl A G 18: 65,883,253 (GRCm39) R611G probably benign Het
Oasl1 T C 5: 115,074,129 (GRCm39) probably null Het
Or2n1e T A 17: 38,585,905 (GRCm39) M81K probably damaging Het
Or2y14 G T 11: 49,405,262 (GRCm39) G266C probably damaging Het
Or52h7 T C 7: 104,213,583 (GRCm39) Y52H probably benign Het
Or8k25 A C 2: 86,243,937 (GRCm39) I153R possibly damaging Het
Pate4 A C 9: 35,519,170 (GRCm39) S66A possibly damaging Het
Pigl T A 11: 62,349,309 (GRCm39) C8* probably null Het
Plg G A 17: 12,601,070 (GRCm39) A51T probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppig A T 2: 69,564,635 (GRCm39) D97V probably damaging Het
Ppp1r16a A G 15: 76,578,846 (GRCm39) K517E possibly damaging Het
Prr16 A T 18: 51,436,225 (GRCm39) S235C probably damaging Het
Sbf2 T C 7: 109,977,135 (GRCm39) probably benign Het
Scrt2 A T 2: 151,924,043 (GRCm39) Y25F probably benign Het
Sema6d A T 2: 124,498,756 (GRCm39) H222L probably damaging Het
Septin2 A G 1: 93,425,174 (GRCm39) N110S possibly damaging Het
Shpk G A 11: 73,113,607 (GRCm39) G340D possibly damaging Het
Smg5 T A 3: 88,261,896 (GRCm39) L723H probably damaging Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Spo11 T C 2: 172,831,152 (GRCm39) probably benign Het
Srarp T A 4: 141,163,388 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Tm9sf2 A T 14: 122,363,607 (GRCm39) Y109F probably damaging Het
Tpcn2 A T 7: 144,809,209 (GRCm39) M699K possibly damaging Het
Trim34a T C 7: 103,909,420 (GRCm39) F289S possibly damaging Het
Trim39 T C 17: 36,571,645 (GRCm39) H371R probably damaging Het
Usp48 T A 4: 137,348,532 (GRCm39) I11N possibly damaging Het
Zbtb10 T C 3: 9,345,108 (GRCm39) F677L probably benign Het
Zer1 C T 2: 30,001,008 (GRCm39) G138S probably damaging Het
Zfp612 A G 8: 110,816,227 (GRCm39) K439R possibly damaging Het
Other mutations in Psmd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Psmd1 APN 1 86,017,920 (GRCm39) splice site probably benign
IGL02410:Psmd1 APN 1 86,005,159 (GRCm39) missense probably damaging 0.97
IGL02455:Psmd1 APN 1 86,006,302 (GRCm39) missense probably damaging 0.97
IGL03015:Psmd1 APN 1 86,055,914 (GRCm39) missense probably damaging 0.97
IGL03100:Psmd1 APN 1 86,046,243 (GRCm39) missense possibly damaging 0.68
Neutralized UTSW 1 86,012,914 (GRCm39) missense probably damaging 0.98
Rickety UTSW 1 85,998,350 (GRCm39) critical splice donor site probably null
PIT4480001:Psmd1 UTSW 1 86,055,960 (GRCm39) missense probably damaging 0.99
R0027:Psmd1 UTSW 1 86,021,987 (GRCm39) splice site probably benign
R0115:Psmd1 UTSW 1 86,010,993 (GRCm39) missense possibly damaging 0.89
R0201:Psmd1 UTSW 1 86,046,338 (GRCm39) missense probably benign 0.11
R0206:Psmd1 UTSW 1 86,061,463 (GRCm39) missense possibly damaging 0.94
R0208:Psmd1 UTSW 1 86,061,463 (GRCm39) missense possibly damaging 0.94
R0255:Psmd1 UTSW 1 86,006,304 (GRCm39) missense probably damaging 1.00
R0486:Psmd1 UTSW 1 86,022,012 (GRCm39) missense probably damaging 0.99
R0675:Psmd1 UTSW 1 86,009,761 (GRCm39) missense probably benign 0.03
R0790:Psmd1 UTSW 1 86,005,172 (GRCm39) missense possibly damaging 0.94
R1565:Psmd1 UTSW 1 86,019,719 (GRCm39) splice site probably benign
R1721:Psmd1 UTSW 1 85,999,567 (GRCm39) missense probably damaging 0.99
R2010:Psmd1 UTSW 1 86,003,719 (GRCm39) missense probably damaging 0.96
R2098:Psmd1 UTSW 1 86,009,823 (GRCm39) splice site probably null
R2118:Psmd1 UTSW 1 86,006,422 (GRCm39) missense possibly damaging 0.94
R2119:Psmd1 UTSW 1 86,006,422 (GRCm39) missense possibly damaging 0.94
R2120:Psmd1 UTSW 1 86,006,422 (GRCm39) missense possibly damaging 0.94
R2122:Psmd1 UTSW 1 86,006,422 (GRCm39) missense possibly damaging 0.94
R2504:Psmd1 UTSW 1 86,017,719 (GRCm39) missense possibly damaging 0.91
R3810:Psmd1 UTSW 1 86,060,437 (GRCm39) missense probably damaging 0.99
R3811:Psmd1 UTSW 1 86,060,437 (GRCm39) missense probably damaging 0.99
R3978:Psmd1 UTSW 1 86,055,909 (GRCm39) missense probably benign 0.05
R4131:Psmd1 UTSW 1 86,006,422 (GRCm39) missense probably damaging 0.98
R4360:Psmd1 UTSW 1 86,061,459 (GRCm39) missense probably damaging 0.97
R4386:Psmd1 UTSW 1 86,055,914 (GRCm39) missense possibly damaging 0.93
R4402:Psmd1 UTSW 1 86,003,673 (GRCm39) missense possibly damaging 0.59
R4591:Psmd1 UTSW 1 86,055,926 (GRCm39) missense probably benign 0.05
R4783:Psmd1 UTSW 1 86,006,434 (GRCm39) missense probably damaging 0.97
R4824:Psmd1 UTSW 1 86,064,820 (GRCm39) missense probably benign 0.08
R4937:Psmd1 UTSW 1 86,010,947 (GRCm39) missense probably damaging 0.98
R5486:Psmd1 UTSW 1 86,064,772 (GRCm39) missense possibly damaging 0.59
R5979:Psmd1 UTSW 1 86,017,775 (GRCm39) missense possibly damaging 0.92
R6033:Psmd1 UTSW 1 86,064,817 (GRCm39) missense probably damaging 1.00
R6425:Psmd1 UTSW 1 85,998,350 (GRCm39) critical splice donor site probably null
R7467:Psmd1 UTSW 1 86,044,355 (GRCm39) missense probably damaging 0.99
R8257:Psmd1 UTSW 1 86,006,345 (GRCm39) missense probably damaging 0.99
R8390:Psmd1 UTSW 1 86,006,329 (GRCm39) missense possibly damaging 0.59
R8750:Psmd1 UTSW 1 86,016,585 (GRCm39) missense probably damaging 0.99
R8890:Psmd1 UTSW 1 86,012,914 (GRCm39) missense probably damaging 0.98
R9017:Psmd1 UTSW 1 86,054,231 (GRCm39) missense probably damaging 0.99
R9142:Psmd1 UTSW 1 86,064,817 (GRCm39) missense probably damaging 1.00
R9330:Psmd1 UTSW 1 86,061,490 (GRCm39) missense probably damaging 1.00
R9799:Psmd1 UTSW 1 86,054,236 (GRCm39) missense possibly damaging 0.77
Z1177:Psmd1 UTSW 1 86,010,890 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTTTACTACAGGGGAGGCAG -3'
(R):5'- CTCAAGTAAGTACAGAGAATGCCAATG -3'

Sequencing Primer
(F):5'- CAGGGGAGGCAGCTGGC -3'
(R):5'- CCTTTAATCCTAGCAACTGGGAGG -3'
Posted On 2016-09-01