Incidental Mutation 'R1518:Psmd14'
ID 167154
Institutional Source Beutler Lab
Gene Symbol Psmd14
Ensembl Gene ENSMUSG00000026914
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 14
Synonyms Pad1, 2610312C03Rik, POH1, 3200001M20Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1518 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 61542038-61630720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 61591335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 46 (R46H)
Ref Sequence ENSEMBL: ENSMUSP00000028278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028278]
AlphaFold O35593
Predicted Effect probably damaging
Transcript: ENSMUST00000028278
AA Change: R46H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028278
Gene: ENSMUSG00000026914
AA Change: R46H

low complexity region 4 19 N/A INTRINSIC
JAB_MPN 30 165 3.71e-49 SMART
Pfam:MitMem_reg 173 307 9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174919
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]
Allele List at MGI

All alleles(42) : Gene trapped(42)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,186,666 (GRCm39) M493L probably benign Het
Abtb2 G A 2: 103,539,629 (GRCm39) V665I probably benign Het
Adamtsl1 C G 4: 86,260,840 (GRCm39) S1017W probably damaging Het
Aebp1 A G 11: 5,821,469 (GRCm39) T623A possibly damaging Het
Alox5 A G 6: 116,390,741 (GRCm39) F470S probably damaging Het
Angpt2 T C 8: 18,755,855 (GRCm39) E204G probably benign Het
Apip A G 2: 102,919,838 (GRCm39) E138G probably damaging Het
Apob C T 12: 8,039,207 (GRCm39) T466M probably benign Het
Atp2b3 GACAACA GACA X: 72,588,729 (GRCm39) probably benign Het
Atxn7l3 A T 11: 102,185,340 (GRCm39) D56E probably benign Het
Cacna1s C T 1: 136,026,289 (GRCm39) A1092V probably damaging Het
Calr3 A G 8: 73,181,044 (GRCm39) F183L probably damaging Het
Cd300lb T A 11: 114,816,877 (GRCm39) D55V probably benign Het
Chid1 A C 7: 141,108,384 (GRCm39) V145G probably damaging Het
Chst15 T C 7: 131,871,855 (GRCm39) N142S probably damaging Het
Cnot4 C T 6: 35,028,389 (GRCm39) R409Q probably damaging Het
Cope T G 8: 70,765,411 (GRCm39) I287S possibly damaging Het
Cpd A T 11: 76,731,212 (GRCm39) probably null Het
Cux1 G T 5: 136,337,133 (GRCm39) T785K probably benign Het
Dennd2b A G 7: 109,156,562 (GRCm39) S63P probably damaging Het
Dthd1 T C 5: 62,979,383 (GRCm39) S348P probably damaging Het
Eno3 G T 11: 70,551,903 (GRCm39) E64* probably null Het
Entpd1 T A 19: 40,713,507 (GRCm39) Y184* probably null Het
Erv3 A T 2: 131,698,083 (GRCm39) M92K probably benign Het
Flg2 T A 3: 93,110,445 (GRCm39) H824Q unknown Het
Fndc9 G A 11: 46,128,930 (GRCm39) G150S probably benign Het
Gdap1 G A 1: 17,217,169 (GRCm39) V43I possibly damaging Het
Ifi213 C A 1: 173,417,229 (GRCm39) L394F probably damaging Het
Ift88 A G 14: 57,668,085 (GRCm39) T29A possibly damaging Het
Kdm4c A T 4: 74,252,063 (GRCm39) I437L probably benign Het
Kras T A 6: 145,177,977 (GRCm39) E98D probably benign Het
Lcorl C A 5: 45,891,543 (GRCm39) R353I possibly damaging Het
Lrrc4c A G 2: 97,460,921 (GRCm39) I516V probably benign Het
Lrrc51 T C 7: 101,564,803 (GRCm39) D85G probably damaging Het
Lypd6b G A 2: 49,837,504 (GRCm39) A159T probably damaging Het
Magel2 G A 7: 62,030,188 (GRCm39) V1031I unknown Het
Man1c1 A T 4: 134,308,100 (GRCm39) N338K probably benign Het
Mdn1 C A 4: 32,739,977 (GRCm39) Q3744K probably damaging Het
Micu3 G T 8: 40,788,893 (GRCm39) A135S possibly damaging Het
Muc4 T C 16: 32,569,167 (GRCm39) S76P possibly damaging Het
Nin T G 12: 70,061,547 (GRCm39) T2106P probably benign Het
Nlrp4e T C 7: 23,021,268 (GRCm39) I585T probably benign Het
Npy1r C T 8: 67,156,847 (GRCm39) A89V probably benign Het
Or11g27 T C 14: 50,771,622 (GRCm39) V251A probably damaging Het
Or4c115 G A 2: 88,927,944 (GRCm39) A109V probably benign Het
Or52ae7 T A 7: 103,119,249 (GRCm39) M1K probably null Het
Or52n3 T A 7: 104,530,515 (GRCm39) Y200* probably null Het
Or5w13 A T 2: 87,523,872 (GRCm39) M118K probably damaging Het
Parp14 T G 16: 35,677,008 (GRCm39) T987P possibly damaging Het
Pde7b A T 10: 20,423,867 (GRCm39) V3E probably damaging Het
Pdlim7 G T 13: 55,656,107 (GRCm39) Y104* probably null Het
Pgm2l1 A G 7: 99,910,932 (GRCm39) K292R probably benign Het
Plec T C 15: 76,072,401 (GRCm39) E728G probably damaging Het
Plppr4 T C 3: 117,129,152 (GRCm39) Y105C probably damaging Het
Polr1c A T 17: 46,558,821 (GRCm39) N23K possibly damaging Het
Ppp5c A T 7: 16,743,861 (GRCm39) M191K probably damaging Het
Prkca T C 11: 107,869,142 (GRCm39) D57G probably damaging Het
Prkcb A G 7: 122,143,854 (GRCm39) probably null Het
Prl6a1 A T 13: 27,502,911 (GRCm39) Q169L probably null Het
Prl6a1 C A 13: 27,502,910 (GRCm39) Q169K possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ramp2 A G 11: 101,138,408 (GRCm39) T22A probably benign Het
Rbm19 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 5: 120,278,345 (GRCm39) probably benign Het
Rbm25 A T 12: 83,715,219 (GRCm39) E463D possibly damaging Het
Retnlb A G 16: 48,637,678 (GRCm39) I35V probably benign Het
Sestd1 A G 2: 77,071,976 (GRCm39) Y49H probably damaging Het
Setd2 T A 9: 110,431,306 (GRCm39) I2378N probably damaging Het
Slc26a1 A T 5: 108,819,740 (GRCm39) C486* probably null Het
Spef2 T A 15: 9,667,316 (GRCm39) I791F probably damaging Het
Sptb T C 12: 76,650,798 (GRCm39) T1726A possibly damaging Het
Stk38l T A 6: 146,673,129 (GRCm39) M296K probably benign Het
Taf5 T C 19: 47,070,285 (GRCm39) F624L probably damaging Het
Tmem30c G T 16: 57,086,855 (GRCm39) T316K probably damaging Het
Trpm2 A G 10: 77,778,839 (GRCm39) S376P possibly damaging Het
Vmn2r82 A T 10: 79,214,702 (GRCm39) L228F probably damaging Het
Zfp607b G A 7: 27,398,087 (GRCm39) C57Y possibly damaging Het
Zfp983 A G 17: 21,881,269 (GRCm39) H399R probably damaging Het
Zfp984 A T 4: 147,840,002 (GRCm39) M283K probably benign Het
Other mutations in Psmd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Psmd14 APN 2 61,591,026 (GRCm39) missense probably damaging 1.00
IGL01071:Psmd14 APN 2 61,630,407 (GRCm39) missense probably benign 0.01
IGL03036:Psmd14 APN 2 61,614,205 (GRCm39) missense probably damaging 1.00
Agra UTSW 2 61,591,356 (GRCm39) missense probably damaging 1.00
3-1:Psmd14 UTSW 2 61,591,326 (GRCm39) missense probably damaging 1.00
R0506:Psmd14 UTSW 2 61,630,407 (GRCm39) missense probably benign 0.01
R1006:Psmd14 UTSW 2 61,627,726 (GRCm39) splice site probably null
R1543:Psmd14 UTSW 2 61,615,874 (GRCm39) missense probably benign 0.00
R1913:Psmd14 UTSW 2 61,615,800 (GRCm39) missense possibly damaging 0.94
R2356:Psmd14 UTSW 2 61,630,351 (GRCm39) missense probably benign
R6820:Psmd14 UTSW 2 61,607,068 (GRCm39) missense probably benign
R7271:Psmd14 UTSW 2 61,591,356 (GRCm39) missense probably damaging 1.00
R9075:Psmd14 UTSW 2 61,607,021 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- TGCTTCCTaaagcaaagaaaaaaac -3'
Posted On 2014-04-13