Incidental Mutation 'IGL03284:Psmd6'
ID 415659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmd6
Ensembl Gene ENSMUSG00000021737
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 6
Synonyms 2400006A19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL03284
Quality Score
Status
Chromosome 14
Chromosomal Location 8348818-8357578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14112546 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 351 (N351K)
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: N351K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: N351K

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: ENSMUST00000153237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224076
Predicted Effect probably benign
Transcript: ENSMUST00000224955
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,354 (GRCm39) probably benign Het
Atxn7l3b T C 10: 112,764,431 (GRCm39) D66G probably benign Het
Dmac2 T C 7: 25,321,851 (GRCm39) probably null Het
Ephb2 A G 4: 136,388,827 (GRCm39) M590T probably damaging Het
Fbxo41 C T 6: 85,456,747 (GRCm39) R474H probably damaging Het
Fcgbp G T 7: 27,784,857 (GRCm39) A306S possibly damaging Het
Hapstr1 A G 16: 8,673,786 (GRCm39) I238V possibly damaging Het
Hmg20a A G 9: 56,388,901 (GRCm39) D156G probably benign Het
Mast4 A G 13: 102,887,905 (GRCm39) V1168A probably damaging Het
Oog2 A G 4: 143,923,177 (GRCm39) probably benign Het
Pate12 T A 9: 36,344,759 (GRCm39) C96S probably damaging Het
Pkhd1l1 T A 15: 44,410,914 (GRCm39) probably benign Het
Ralgps1 T C 2: 33,036,577 (GRCm39) probably benign Het
Rbl1 C T 2: 157,035,989 (GRCm39) probably benign Het
Smarcc1 G A 9: 110,004,142 (GRCm39) V399I probably benign Het
Srek1 C A 13: 103,897,045 (GRCm39) V99F probably damaging Het
Styxl1 A G 5: 135,785,949 (GRCm39) V32A possibly damaging Het
Tnn C T 1: 159,953,022 (GRCm39) V673I probably benign Het
Vmn2r107 T A 17: 20,577,173 (GRCm39) D390E probably benign 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
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
R4151:Psmd6 UTSW 14 14,120,157 (GRCm38) missense probably benign 0.02
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
Posted On 2016-08-02