Incidental Mutation 'R4151:Psmd6'
ID 314916
Institutional Source Beutler Lab
Gene Symbol Psmd6
Ensembl Gene ENSMUSG00000021737
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 6
Synonyms 2400006A19Rik
MMRRC Submission 040861-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4151 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 8348818-8357578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 14120157 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 61 (L61V)
Ref Sequence ENSEMBL: ENSMUSP00000022256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022256] [ENSMUST00000224955]
AlphaFold Q99JI4
Predicted Effect probably benign
Transcript: ENSMUST00000022256
AA Change: L61V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: L61V

DomainStartEndE-ValueType
Pfam:RPN7 66 239 5e-65 PFAM
PINT 290 373 9.59e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224076
Predicted Effect probably benign
Transcript: ENSMUST00000224955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226093
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 C T 9: 122,090,601 (GRCm39) W237* probably null Het
Armc9 C T 1: 86,092,497 (GRCm39) T87M probably damaging Het
Astn2 C T 4: 65,647,557 (GRCm39) probably null Het
Atxn7l1 G A 12: 33,414,481 (GRCm39) V506M probably damaging Het
Cenpe A G 3: 134,920,914 (GRCm39) N36D probably benign Het
Cfap45 T A 1: 172,359,788 (GRCm39) I96N probably damaging Het
Cyp8b1 A T 9: 121,745,134 (GRCm39) V66D probably damaging Het
Dnajb6 C G 5: 29,961,234 (GRCm39) L118V probably benign Het
Dpy19l4 A G 4: 11,309,485 (GRCm39) S44P possibly damaging Het
Dync2li1 A G 17: 84,935,763 (GRCm39) H20R probably benign Het
Ecpas A T 4: 58,836,254 (GRCm39) S695R possibly damaging Het
Eif3g T C 9: 20,806,429 (GRCm39) D220G probably benign Het
Fbxo38 GTGCTGCTGCTGCTGCTGCTGC GTGCTGCTGCTGCTGCTGC 18: 62,648,399 (GRCm39) probably benign Het
Gata2 T A 6: 88,176,620 (GRCm39) H26Q probably damaging Het
Gle1 T C 2: 29,834,056 (GRCm39) I434T probably damaging Het
Gm5145 A G 17: 20,791,360 (GRCm39) E246G probably damaging Het
Ints10 T A 8: 69,247,250 (GRCm39) probably null Het
Kdr G T 5: 76,117,761 (GRCm39) A664E possibly damaging Het
Klhl1 A C 14: 96,755,752 (GRCm39) M1R probably null Het
Lama4 T A 10: 38,881,424 (GRCm39) F71Y probably benign Het
Madd C A 2: 90,973,428 (GRCm39) R1410L probably benign Het
Magi2 T C 5: 19,432,290 (GRCm39) S2P probably damaging Het
Map4k3 T C 17: 80,951,963 (GRCm39) K228R probably damaging Het
Mrpl43 A G 19: 44,994,175 (GRCm39) L148P possibly damaging Het
Msi2 G C 11: 88,608,870 (GRCm39) S16C probably damaging Het
Myo1e G T 9: 70,204,633 (GRCm39) G78* probably null Het
Notch2 T C 3: 98,054,387 (GRCm39) L2350S possibly damaging Het
Nptn G T 9: 58,550,825 (GRCm39) S168I probably benign Het
Nsmce2 A G 15: 59,473,214 (GRCm39) T244A probably benign Het
Or5aq6 C T 2: 86,923,514 (GRCm39) V76I probably benign Het
Ostn T A 16: 27,140,152 (GRCm39) S22T probably benign Het
Plekhb2 T G 1: 34,903,564 (GRCm39) F102V probably benign Het
Prkdc A G 16: 15,634,637 (GRCm39) D3594G probably benign Het
Rbm33 C T 5: 28,592,938 (GRCm39) P573S probably damaging Het
Rfk A C 19: 17,372,672 (GRCm39) I65L probably benign Het
Rnf141 A T 7: 110,436,406 (GRCm39) D7E probably benign Het
Shank2 A T 7: 143,608,565 (GRCm39) K153M probably damaging Het
Slc30a2 A T 4: 134,071,359 (GRCm39) I31F probably benign Het
Slco3a1 G T 7: 74,009,586 (GRCm39) A243E probably damaging Het
Stab2 G A 10: 86,838,847 (GRCm39) T73I probably benign Het
Sufu G A 19: 46,438,411 (GRCm39) probably null Het
Sync C T 4: 129,187,519 (GRCm39) Q184* probably null Het
Tnfrsf25 G T 4: 152,204,258 (GRCm39) A376S probably damaging Het
Tnpo1 A T 13: 98,989,407 (GRCm39) I765N probably damaging Het
Ube2d2b A T 5: 107,978,747 (GRCm39) K133* probably null Het
Ulk3 C T 9: 57,499,650 (GRCm39) S217L possibly damaging Het
Upf2 C A 2: 5,966,516 (GRCm39) Q379K unknown Het
Vegfc T A 8: 54,530,824 (GRCm39) L4Q unknown Het
Vmn2r104 A T 17: 20,250,147 (GRCm39) I708N probably damaging Het
Other mutations in Psmd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01512:Psmd6 APN 14 14,114,237 (GRCm38) missense probably damaging 1.00
IGL01937:Psmd6 APN 14 14,116,169 (GRCm38) missense probably benign 0.00
IGL03240:Psmd6 APN 14 14,112,393 (GRCm38) unclassified probably benign
IGL03284:Psmd6 APN 14 14,112,546 (GRCm38) missense probably benign 0.00
R1479:Psmd6 UTSW 14 14,116,819 (GRCm38) intron probably benign
R1627:Psmd6 UTSW 14 14,112,539 (GRCm38) missense probably damaging 1.00
R1942:Psmd6 UTSW 14 14,116,442 (GRCm38) missense probably damaging 1.00
R4279:Psmd6 UTSW 14 14,112,297 (GRCm38) missense possibly damaging 0.81
R4776:Psmd6 UTSW 14 14,120,932 (GRCm38) unclassified probably benign
R4799:Psmd6 UTSW 14 14,120,126 (GRCm38) missense probably benign
R4956:Psmd6 UTSW 14 14,116,166 (GRCm38) missense probably benign 0.16
R5599:Psmd6 UTSW 14 14,120,144 (GRCm38) missense probably benign 0.01
R5828:Psmd6 UTSW 14 14,119,990 (GRCm38) missense probably benign 0.16
R5884:Psmd6 UTSW 14 14,116,526 (GRCm38) missense probably damaging 1.00
R6362:Psmd6 UTSW 14 14,116,949 (GRCm38) missense probably benign 0.07
R7208:Psmd6 UTSW 14 14,112,225 (GRCm38) splice site probably null
R7590:Psmd6 UTSW 14 14,119,882 (GRCm38) frame shift probably null
R7677:Psmd6 UTSW 14 14,120,837 (GRCm38) missense probably benign 0.19
R7773:Psmd6 UTSW 14 14,119,882 (GRCm38) frame shift probably null
R8228:Psmd6 UTSW 14 14,116,843 (GRCm38) missense possibly damaging 0.48
R8236:Psmd6 UTSW 14 14,119,882 (GRCm38) frame shift probably null
R8506:Psmd6 UTSW 14 14,114,181 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCATCTCACTGACCTTGTC -3'
(R):5'- TTGGCCTTAGTCGCGATCAG -3'

Sequencing Primer
(F):5'- TGTCACCTATCTGACAGAGGTAC -3'
(R):5'- TGCTAAGATCGGCTCTCAAG -3'
Posted On 2015-05-14