Incidental Mutation 'IGL00233:Psmd13'
ID306830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmd13
Ensembl Gene ENSMUSG00000025487
Gene Nameproteasome (prosome, macropain) 26S subunit, non-ATPase, 13
Synonyms26S proteasome subunit p40.5, S11
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL00233
Quality Score
Status
Chromosome7
Chromosomal Location140881968-140898643 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140897621 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 311 (V311A)
Ref Sequence ENSEMBL: ENSMUSP00000026560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026560] [ENSMUST00000026561] [ENSMUST00000163610] [ENSMUST00000164681] [ENSMUST00000166889]
Predicted Effect probably damaging
Transcript: ENSMUST00000026560
AA Change: V311A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026560
Gene: ENSMUSG00000025487
AA Change: V311A

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PINT 263 356 2.26e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026561
SMART Domains Protein: ENSMUSP00000026561
Gene: ENSMUSG00000025488

DomainStartEndE-ValueType
Pfam:COX8 25 67 9.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125668
Predicted Effect unknown
Transcript: ENSMUST00000130462
AA Change: V147A
SMART Domains Protein: ENSMUSP00000126160
Gene: ENSMUSG00000025487
AA Change: V147A

DomainStartEndE-ValueType
PINT 100 189 6.59e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151644
Predicted Effect probably damaging
Transcript: ENSMUST00000163610
AA Change: V284A

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130580
Gene: ENSMUSG00000025487
AA Change: V284A

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PDB:4CR4|O 16 347 7e-44 PDB
Blast:PINT 245 329 9e-26 BLAST
Predicted Effect silent
Transcript: ENSMUST00000164681
SMART Domains Protein: ENSMUSP00000132405
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PDB:4CR4|O 16 184 1e-12 PDB
low complexity region 217 232 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000165539
AA Change: V41A
SMART Domains Protein: ENSMUSP00000130256
Gene: ENSMUSG00000025487
AA Change: V41A

DomainStartEndE-ValueType
Pfam:PCI 1 63 7.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166889
SMART Domains Protein: ENSMUSP00000126532
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
Coding Region Coverage
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 non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,677,143 probably benign Het
Arpc5 A G 1: 152,768,907 I64V probably benign Het
C030048H21Rik G A 2: 26,256,620 R1227W probably damaging Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Cda T C 4: 138,367,846 Y33C probably damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm3238 C T 10: 77,771,292 probably benign Het
Gm43638 C T 5: 87,460,399 R527H probably damaging Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Mgat5b T A 11: 116,931,662 M74K probably damaging Het
Ms4a7 A T 19: 11,322,360 V89D probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Rec8 C T 14: 55,623,515 Q334* probably null Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in Psmd13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02265:Psmd13 APN 7 140882518 missense probably damaging 1.00
R0326:Psmd13 UTSW 7 140897711 missense probably damaging 1.00
R1163:Psmd13 UTSW 7 140897454 missense probably damaging 0.97
R1667:Psmd13 UTSW 7 140890609 missense probably damaging 1.00
R1721:Psmd13 UTSW 7 140883517 missense probably damaging 1.00
R1867:Psmd13 UTSW 7 140883517 missense probably damaging 1.00
R1993:Psmd13 UTSW 7 140898194 missense probably damaging 1.00
R2070:Psmd13 UTSW 7 140897648 missense probably damaging 0.99
R2844:Psmd13 UTSW 7 140897740 intron probably benign
R2845:Psmd13 UTSW 7 140897740 intron probably benign
R2846:Psmd13 UTSW 7 140897740 intron probably benign
R2869:Psmd13 UTSW 7 140887055 missense probably damaging 0.99
R2869:Psmd13 UTSW 7 140887055 missense probably damaging 0.99
R2871:Psmd13 UTSW 7 140887055 missense probably damaging 0.99
R2871:Psmd13 UTSW 7 140887055 missense probably damaging 0.99
R4358:Psmd13 UTSW 7 140889505 intron probably benign
R4973:Psmd13 UTSW 7 140886853 nonsense probably null
R5197:Psmd13 UTSW 7 140894461 splice site probably null
R6700:Psmd13 UTSW 7 140890609 missense probably damaging 1.00
R8239:Psmd13 UTSW 7 140886537 missense probably damaging 1.00
Z1176:Psmd13 UTSW 7 140882426 unclassified probably benign
Posted On2015-04-16