Incidental Mutation 'R3978:Psmd1'
ID 311102
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 040941-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R3978 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 85992341-86067017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86055909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 757 (M757T)
Ref Sequence ENSEMBL: ENSMUSP00000027432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027432] [ENSMUST00000139715]
AlphaFold Q3TXS7
Predicted Effect probably benign
Transcript: ENSMUST00000027432
AA Change: M757T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: M757T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195317
Meta Mutation Damage Score 0.1111 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,435 (GRCm39) T61A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Ano5 G A 7: 51,237,554 (GRCm39) V743I probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arid2 A G 15: 96,261,503 (GRCm39) D453G probably damaging Het
Atp2b1 C A 10: 98,832,795 (GRCm39) probably null Het
Azin1 A T 15: 38,498,957 (GRCm39) N135K probably damaging Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Cfap54 T C 10: 92,798,274 (GRCm39) T1662A probably benign Het
Cog8 T A 8: 107,779,669 (GRCm39) I203F probably damaging Het
Col6a6 T C 9: 105,576,078 (GRCm39) H2094R probably damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dpyd AAAT AAATGTATATAAAT 3: 118,690,737 (GRCm39) probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Eif3i T C 4: 129,486,129 (GRCm39) E276G probably damaging Het
Fam171a1 A C 2: 3,226,072 (GRCm39) M402L probably benign Het
Fga A T 3: 82,937,490 (GRCm39) probably null Het
Foxp2 A G 6: 15,197,207 (GRCm39) probably benign Het
Gbp2 C T 3: 142,335,747 (GRCm39) T149I possibly damaging Het
Gm9631 A G 11: 121,834,394 (GRCm39) Y281H possibly damaging Het
Gpr21 C T 2: 37,407,862 (GRCm39) T136I probably benign Het
Gprc5b C T 7: 118,583,354 (GRCm39) V172M probably damaging Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hdlbp T C 1: 93,349,073 (GRCm39) I535V probably damaging Het
Helb A G 10: 119,925,530 (GRCm39) V949A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il27ra G A 8: 84,767,313 (GRCm39) T170I probably benign Het
Insm2 T C 12: 55,647,623 (GRCm39) Y456H probably benign Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Lin9 T A 1: 180,496,357 (GRCm39) I298N possibly damaging Het
Lyst G A 13: 13,808,753 (GRCm39) R141Q possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or5p61 A G 7: 107,758,819 (GRCm39) M87T possibly damaging Het
Pdgfrb A T 18: 61,206,757 (GRCm39) H661L probably damaging Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1ca T C 19: 4,242,253 (GRCm39) I13T probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rfx7 A G 9: 72,522,393 (GRCm39) T296A possibly damaging Het
Rgl2 G A 17: 34,154,136 (GRCm39) R472H probably benign Het
Rhcg T C 7: 79,267,147 (GRCm39) E43G probably benign Het
Rif1 T A 2: 52,006,759 (GRCm39) probably null Het
Rorb A G 19: 18,915,254 (GRCm39) V468A probably benign Het
Rxrb C T 17: 34,255,300 (GRCm39) P209L possibly damaging Het
Sbf2 G T 7: 109,929,092 (GRCm39) T1438K probably benign Het
Setd3 A T 12: 108,124,201 (GRCm39) C163S possibly damaging Het
Slc15a1 C T 14: 121,727,239 (GRCm39) D110N probably benign Het
Slc26a3 T A 12: 31,515,859 (GRCm39) probably null Het
Slc5a5 A G 8: 71,342,039 (GRCm39) V305A probably benign Het
Slc6a6 A T 6: 91,732,033 (GRCm39) M621L probably benign Het
Smgc A T 15: 91,744,546 (GRCm39) D301V probably damaging Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Syt15 T A 14: 33,945,061 (GRCm39) C203S probably benign Het
Tdrd1 A G 19: 56,855,066 (GRCm39) R1171G probably benign Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Tspan9 A G 6: 127,944,210 (GRCm39) V30A probably damaging Het
Ubp1 A T 9: 113,785,773 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,881,670 (GRCm39) Y470F probably benign Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Wee1 G T 7: 109,723,762 (GRCm39) D226Y probably damaging Het
Yap1 C T 9: 8,004,285 (GRCm39) G36D probably damaging Het
Zmym6 T C 4: 127,017,348 (GRCm39) I951T 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
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'- TTCCTTGGAAAGCGTTGGAG -3'
(R):5'- TCTGTAAGGGCTAAGGACTAACTG -3'

Sequencing Primer
(F):5'- TCAGCCTGGTCTACAAAGTG -3'
(R):5'- TGAAGGGGAAATATGGTCATTTATG -3'
Posted On 2015-04-29