Incidental Mutation 'PIT4480001:Psmd1'
ID 554842
Institutional Source Beutler Lab
Gene Symbol Psmd1
Ensembl Gene ENSMUSG00000026229
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 1
Synonyms P112, S1
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # PIT4480001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 85992341-86067017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86055960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 774 (P774L)
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: P774L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: P774L

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 probably benign
Transcript: ENSMUST00000139715
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.7%
  • 10x: 83.8%
  • 20x: 69.1%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 G A 19: 4,917,605 (GRCm39) Q413* probably null Het
Ahnak2 C T 12: 112,740,358 (GRCm39) S1238N possibly damaging Het
Arsk T C 13: 76,210,484 (GRCm39) E521G probably damaging Het
Baiap2 A G 11: 119,887,913 (GRCm39) T356A probably benign Het
Baz1b G A 5: 135,246,819 (GRCm39) R756H probably damaging Het
Celsr1 G A 15: 85,916,615 (GRCm39) P453S probably damaging Het
Cep41 G A 6: 30,658,412 (GRCm39) P196S probably damaging Het
Cln5 T A 14: 103,309,214 (GRCm39) Y89* probably null Het
Cntnap3 A G 13: 64,905,024 (GRCm39) F919S probably damaging Het
Cntrl C T 2: 35,045,440 (GRCm39) H1383Y probably damaging Het
Cobl A G 11: 12,203,592 (GRCm39) S1037P probably benign Het
Col17a1 A T 19: 47,659,813 (GRCm39) S380T probably benign Het
Cyrib G A 15: 63,828,490 (GRCm39) T11I probably benign Het
Dagla A T 19: 10,238,022 (GRCm39) S323T probably benign Het
Dicer1 G T 12: 104,662,803 (GRCm39) Q1593K probably benign Het
Dnah6 T C 6: 73,078,863 (GRCm39) I2367V probably benign Het
Emc1 T C 4: 139,086,588 (GRCm39) S184P possibly damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Erbb4 A T 1: 68,114,702 (GRCm39) M914K probably damaging Het
Eva1a A G 6: 82,068,784 (GRCm39) E37G probably damaging Het
Fyco1 G T 9: 123,657,715 (GRCm39) Y820* probably null Het
Gipr T C 7: 18,896,859 (GRCm39) Y137C probably damaging Het
Gm5414 A G 15: 101,536,181 (GRCm39) V148A probably damaging Het
Gpn1 T C 5: 31,654,685 (GRCm39) V79A probably damaging Het
Grk2 G A 19: 4,337,437 (GRCm39) R617C possibly damaging Het
Inpp4b A C 8: 82,772,896 (GRCm39) E730A probably damaging Het
Inpp5f C T 7: 128,286,858 (GRCm39) T579I probably benign Het
Kif15 A T 9: 122,840,608 (GRCm39) M1201L probably benign Het
Ltbp3 A G 19: 5,801,254 (GRCm39) N631S possibly damaging Het
Mdh1 G A 11: 21,508,538 (GRCm39) S268L probably damaging Het
Mgat4e T A 1: 134,469,103 (GRCm39) T314S possibly damaging Het
Nsd1 A G 13: 55,361,731 (GRCm39) Q233R probably benign Het
Or11g1 T C 14: 50,651,372 (GRCm39) F124L probably benign Het
Or5w17 T C 2: 87,584,127 (GRCm39) D70G possibly damaging Het
Paqr5 T A 9: 61,863,438 (GRCm39) I295L probably benign Het
Peg10 C T 6: 4,756,560 (GRCm39) H379Y unknown Het
Phtf2 A T 5: 21,018,242 (GRCm39) I33N probably damaging Het
Plcb2 T C 2: 118,553,977 (GRCm39) M115V probably benign Het
Ppp2r3d A G 9: 101,003,576 (GRCm39) Y431H possibly damaging Het
Prph2 GT G 17: 47,222,039 (GRCm39) probably null Het
Ranbp17 A T 11: 33,247,340 (GRCm39) probably null Het
Rptn A G 3: 93,304,977 (GRCm39) D770G possibly damaging Het
Serac1 A G 17: 6,101,087 (GRCm39) L439P probably damaging Het
Slitrk6 TTTTAGTCTGTTCTACCAACACCTT TTT 14: 110,987,257 (GRCm39) probably null Het
Sox6 T C 7: 115,196,744 (GRCm39) I295M probably benign Het
Spata31h1 T C 10: 82,119,586 (GRCm39) M4475V probably benign Het
Sulf1 T A 1: 12,929,637 (GRCm39) D301E probably benign Het
Tas2r117 G A 6: 132,780,014 (GRCm39) V51I possibly damaging Het
Tbx2 C T 11: 85,725,561 (GRCm39) R171C probably damaging Het
Tgfbr1 A G 4: 47,402,955 (GRCm39) I320V probably benign Het
Tjp3 C A 10: 81,115,091 (GRCm39) G396W probably damaging Het
Tmprss2 T C 16: 97,400,460 (GRCm39) N4D possibly damaging Het
Tnfaip3 T C 10: 18,883,071 (GRCm39) N165D probably benign Het
Tnfrsf21 A T 17: 43,348,802 (GRCm39) Y138F probably benign Het
Utp4 T C 8: 107,632,817 (GRCm39) S267P probably benign Het
Wnk1 A T 6: 119,940,328 (GRCm39) L803* probably null Het
Zbbx T A 3: 75,043,794 (GRCm39) D35V probably damaging Het
Zscan12 T G 13: 21,552,744 (GRCm39) N189K 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
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
R5443:Psmd1 UTSW 1 86,017,905 (GRCm39) missense probably damaging 0.99
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'- TCCCTAGTGCAGTAGTACCTAG -3'
(R):5'- TTCCCTCTCAAAAGATGTGTCCAG -3'

Sequencing Primer
(F):5'- CCCTAGTGCAGTAGTACCTAGAAATG -3'
(R):5'- GTGTCCAGTATTACACAGCTAGTAAG -3'
Posted On 2019-06-07