Incidental Mutation 'IGL01512:Psmd6'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmd6
Ensembl Gene ENSMUSG00000021737
Gene Nameproteasome (prosome, macropain) 26S subunit, non-ATPase, 6
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL01512
Quality Score
Chromosomal Location14112174-14120984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14114237 bp
Amino Acid Change Tyrosine to Cysteine at position 294 (Y294C)
Ref Sequence ENSEMBL: ENSMUSP00000022256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022256] [ENSMUST00000224955]
Predicted Effect probably damaging
Transcript: ENSMUST00000022256
AA Change: Y294C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: Y294C

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: ENSMUST00000153237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224076
Predicted Effect probably damaging
Transcript: ENSMUST00000224955
AA Change: Y165C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,317,823 I223V probably benign Het
Abra T C 15: 41,866,017 E329G probably damaging Het
Ahsa2 C T 11: 23,491,582 A163T probably benign Het
Atxn1 T C 13: 45,566,601 Q606R probably damaging Het
Fads1 T A 19: 10,183,142 S31T probably benign Het
Il6st T A 13: 112,504,366 M831K probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Megf6 G A 4: 154,262,583 R755Q possibly damaging Het
Ndn T G 7: 62,348,733 L109R probably damaging Het
Olfr124 T G 17: 37,805,612 S156A probably damaging Het
Olfr1263 A G 2: 90,015,292 I121V probably damaging Het
Serpina6 A G 12: 103,654,059 Y144H probably damaging Het
Top3b T C 16: 16,891,422 I68T possibly damaging Het
Trav6d-4 G A 14: 52,753,413 V6I probably benign Het
Utp3 T C 5: 88,555,944 V444A probably damaging Het
Wdr72 T C 9: 74,148,759 V299A probably benign Het
Zfp791 C T 8: 85,113,543 V32M probably damaging Het
Zfp9 A G 6: 118,467,331 F17S probably damaging Het
Other mutations in Psmd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01937:Psmd6 APN 14 14116169 missense probably benign 0.00
IGL03240:Psmd6 APN 14 14112393 unclassified probably benign
IGL03284:Psmd6 APN 14 14112546 missense probably benign 0.00
R1479:Psmd6 UTSW 14 14116819 intron probably benign
R1627:Psmd6 UTSW 14 14112539 missense probably damaging 1.00
R1942:Psmd6 UTSW 14 14116442 missense probably damaging 1.00
R4151:Psmd6 UTSW 14 14120157 missense probably benign 0.02
R4279:Psmd6 UTSW 14 14112297 missense possibly damaging 0.81
R4776:Psmd6 UTSW 14 14120932 unclassified probably benign
R4799:Psmd6 UTSW 14 14120126 missense probably benign
R4956:Psmd6 UTSW 14 14116166 missense probably benign 0.16
R5599:Psmd6 UTSW 14 14120144 missense probably benign 0.01
R5828:Psmd6 UTSW 14 14119990 missense probably benign 0.16
R5884:Psmd6 UTSW 14 14116526 missense probably damaging 1.00
R6362:Psmd6 UTSW 14 14116949 missense probably benign 0.07
R7208:Psmd6 UTSW 14 14112225 utr 3 prime probably null
R7590:Psmd6 UTSW 14 14119882 frame shift probably null
R7677:Psmd6 UTSW 14 14120837 missense probably benign 0.19
R7773:Psmd6 UTSW 14 14119882 frame shift probably null
Posted On2013-12-03