Incidental Mutation 'R1099:Psmf1'
ID 97841
Institutional Source Beutler Lab
Gene Symbol Psmf1
Ensembl Gene ENSMUSG00000032869
Gene Name proteasome (prosome, macropain) inhibitor subunit 1
Synonyms PI31
MMRRC Submission 039173-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1099 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 151557982-151586114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151560590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 260 (H260Q)
Ref Sequence ENSEMBL: ENSMUSP00000105495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042452] [ENSMUST00000109869] [ENSMUST00000155939]
AlphaFold Q8BHL8
Predicted Effect probably damaging
Transcript: ENSMUST00000042452
AA Change: H260Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041184
Gene: ENSMUSG00000032869
AA Change: H260Q

DomainStartEndE-ValueType
Pfam:PI31_Prot_N 11 149 6.7e-31 PFAM
Pfam:PI31_Prot_C 153 248 1.4e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109869
AA Change: H260Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105495
Gene: ENSMUSG00000032869
AA Change: H260Q

DomainStartEndE-ValueType
Pfam:PI31_Prot_N 5 151 1.1e-34 PFAM
Pfam:PI31_Prot_C 175 248 1.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151656
Predicted Effect probably benign
Transcript: ENSMUST00000155939
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
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 protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca7 G T 10: 79,849,577 (GRCm39) E1921* probably null Het
Acnat2 G A 4: 49,380,484 (GRCm39) T298I probably benign Het
Agbl4 T C 4: 110,812,860 (GRCm39) probably null Het
Angpt2 T A 8: 18,749,149 (GRCm39) T323S probably damaging Het
Ano2 A G 6: 125,784,810 (GRCm39) K299R probably damaging Het
Armc2 G T 10: 41,793,183 (GRCm39) Q814K probably benign Het
Atp9b A C 18: 80,901,841 (GRCm39) I263S probably damaging Het
Cadps2 A G 6: 23,599,478 (GRCm39) I276T probably damaging Het
Casp12 T A 9: 5,352,204 (GRCm39) H135Q probably benign Het
Ccdc180 A G 4: 45,914,225 (GRCm39) I621V probably benign Het
Cd160 G A 3: 96,713,156 (GRCm39) A36V probably damaging Het
Ctcfl A T 2: 172,954,153 (GRCm39) C315S probably damaging Het
Egflam A G 15: 7,281,903 (GRCm39) V411A probably benign Het
Ezh1 T C 11: 101,084,634 (GRCm39) probably null Het
Fam171a1 T A 2: 3,226,354 (GRCm39) S371T probably benign Het
Hspbap1 T G 16: 35,645,314 (GRCm39) F333C probably damaging Het
Ky G C 9: 102,414,923 (GRCm39) W278C probably damaging Het
Lrig3 T A 10: 125,842,883 (GRCm39) probably null Het
Map3k6 A T 4: 132,974,439 (GRCm39) S580C probably damaging Het
Mark2 T C 19: 7,254,790 (GRCm39) T219A probably benign Het
Mbd5 A G 2: 49,148,156 (GRCm39) I789V probably benign Het
Myo18a T A 11: 77,709,727 (GRCm39) probably null Het
Nos1 A G 5: 118,061,460 (GRCm39) T929A probably damaging Het
Or2a20 T C 6: 43,194,558 (GRCm39) F237S probably damaging Het
Or2z9 T A 8: 72,854,503 (GRCm39) S300T probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Palmd T C 3: 116,716,874 (GRCm39) N541S possibly damaging Het
Pdzd2 A G 15: 12,373,173 (GRCm39) S2321P probably damaging Het
Prdm8 T G 5: 98,331,361 (GRCm39) I71S probably damaging Het
Prkg1 A C 19: 30,549,012 (GRCm39) S654R probably benign Het
Rp1 A T 1: 4,422,513 (GRCm39) I179N possibly damaging Het
Rreb1 A G 13: 38,132,867 (GRCm39) K1681E probably benign Het
Rtn1 A T 12: 72,351,241 (GRCm39) probably null Het
Scaf4 T A 16: 90,059,986 (GRCm39) I37F unknown Het
Sema4c A G 1: 36,591,191 (GRCm39) S383P probably damaging Het
Shc4 G T 2: 125,564,764 (GRCm39) D178E probably benign Het
Slc2a5 A G 4: 150,226,636 (GRCm39) N366S probably benign Het
Slc6a3 A G 13: 73,715,760 (GRCm39) N465S probably benign Het
Tbc1d9b C A 11: 50,037,135 (GRCm39) D261E probably benign Het
Tdrd3 A T 14: 87,724,675 (GRCm39) T359S probably damaging Het
Thap3 T C 4: 152,067,788 (GRCm39) M97V probably benign Het
Thg1l T A 11: 45,844,988 (GRCm39) Q88L possibly damaging Het
Tjp3 T C 10: 81,109,657 (GRCm39) T849A probably benign Het
Tomm70a G T 16: 56,963,180 (GRCm39) D400Y probably damaging Het
Trak2 T C 1: 58,961,000 (GRCm39) I177V probably benign Het
Trim66 T C 7: 109,074,661 (GRCm39) I533M probably benign Het
Ush2a T A 1: 188,380,545 (GRCm39) Y2285N probably benign Het
Ush2a C T 1: 188,596,836 (GRCm39) P3859S probably damaging Het
Other mutations in Psmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:Psmf1 APN 2 151,562,733 (GRCm39) splice site probably benign
IGL02494:Psmf1 APN 2 151,582,929 (GRCm39) critical splice donor site probably null
R2858:Psmf1 UTSW 2 151,571,456 (GRCm39) missense probably damaging 0.96
R4983:Psmf1 UTSW 2 151,571,377 (GRCm39) intron probably benign
R7879:Psmf1 UTSW 2 151,576,163 (GRCm39) missense probably benign 0.35
R9169:Psmf1 UTSW 2 151,577,457 (GRCm39) missense probably benign 0.00
R9782:Psmf1 UTSW 2 151,577,533 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TGCAAACACATGGGCAGAATCCTC -3'
(R):5'- GCTATTGACCCTGCAAGGACAACAC -3'

Sequencing Primer
(F):5'- GCAGAATCCTCTGCCCC -3'
(R):5'- TCTTTTATAGATGAGAAGGGCAAGGC -3'
Posted On 2014-01-05