Incidental Mutation 'R6700:Psmd13'
ID 528215
Institutional Source Beutler Lab
Gene Symbol Psmd13
Ensembl Gene ENSMUSG00000025487
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 13
Synonyms 26S proteasome subunit p40.5, S11
MMRRC Submission 044818-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R6700 (G1)
Quality Score 205.009
Status Validated
Chromosome 7
Chromosomal Location 140462307-140478555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140470522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 255 (W255R)
Ref Sequence ENSEMBL: ENSMUSP00000026560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026560] [ENSMUST00000163610] [ENSMUST00000164681] [ENSMUST00000166889]
AlphaFold Q9WVJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000026560
AA Change: W255R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026560
Gene: ENSMUSG00000025487
AA Change: W255R

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PINT 263 356 2.26e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129683
Predicted Effect unknown
Transcript: ENSMUST00000130462
AA Change: W91R
SMART Domains Protein: ENSMUSP00000126160
Gene: ENSMUSG00000025487
AA Change: W91R

DomainStartEndE-ValueType
PINT 100 189 6.59e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140411
Predicted Effect probably damaging
Transcript: ENSMUST00000163610
AA Change: W255R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130580
Gene: ENSMUSG00000025487
AA Change: W255R

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 noncoding transcript
Transcript: ENSMUST00000151644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146875
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000166889
SMART Domains Protein: ENSMUSP00000126532
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165539
SMART Domains Protein: ENSMUSP00000130256
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
Pfam:PCI 1 63 7.7e-10 PFAM
Meta Mutation Damage Score 0.9044 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,881,140 (GRCm39) E504G unknown Het
Aak1 G A 6: 86,941,185 (GRCm39) E660K unknown Het
Abcc9 A G 6: 142,633,013 (GRCm39) I243T possibly damaging Het
Baiap3 A G 17: 25,463,000 (GRCm39) S1013P probably damaging Het
Bdp1 A T 13: 100,162,036 (GRCm39) D2295E probably benign Het
Blm A G 7: 80,113,598 (GRCm39) V1233A possibly damaging Het
Brsk1 G T 7: 4,695,700 (GRCm39) V62F probably damaging Het
Cacna2d1 A G 5: 16,570,458 (GRCm39) E1011G probably damaging Het
Cdh18 A G 15: 23,474,191 (GRCm39) Y687C probably benign Het
Cfap221 T C 1: 119,883,421 (GRCm39) E250G possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Cps1 G T 1: 67,268,682 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,760,130 (GRCm39) V34A probably damaging Het
Dnah9 C T 11: 65,846,192 (GRCm39) V2949M probably damaging Het
Dst A C 1: 34,295,404 (GRCm39) Q3454P probably damaging Het
Filip1l T C 16: 57,391,611 (GRCm39) L495P possibly damaging Het
Flnb C A 14: 7,892,189 (GRCm38) H619Q probably damaging Het
Fst G C 13: 114,595,043 (GRCm39) A27G probably benign Het
Ggnbp2 C A 11: 84,730,931 (GRCm39) R364L probably damaging Het
Gins1 C T 2: 150,758,148 (GRCm39) A78V probably damaging Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Golgb1 C T 16: 36,695,946 (GRCm39) probably benign Het
Lin7a A G 10: 107,216,167 (GRCm39) probably null Het
Lrp6 A T 6: 134,456,523 (GRCm39) C914S probably damaging Het
Lrrc8e G A 8: 4,286,034 (GRCm39) G753D probably damaging Het
Mapk4 A G 18: 74,063,882 (GRCm39) Y447H probably damaging Het
Mbl1 A G 14: 40,880,511 (GRCm39) N133S probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nbea T C 3: 55,989,869 (GRCm39) N329S possibly damaging Het
Or13p10 A T 4: 118,523,609 (GRCm39) K298N probably benign Het
Or51k2 G A 7: 103,596,531 (GRCm39) V253M probably damaging Het
Or5b120 A T 19: 13,480,177 (GRCm39) I157F probably damaging Het
Or6k14 G A 1: 173,927,405 (GRCm39) C127Y probably damaging Het
Pik3c3 A G 18: 30,449,954 (GRCm39) E589G probably benign Het
Plb1 A T 5: 32,490,808 (GRCm39) D1035V probably damaging Het
Plekhg1 G T 10: 3,907,373 (GRCm39) M763I probably benign Het
Poc5 A G 13: 96,531,003 (GRCm39) N67S probably benign Het
Rbm27 A G 18: 42,459,004 (GRCm39) Y735C probably damaging Het
Rhpn2 A T 7: 35,075,594 (GRCm39) N257I possibly damaging Het
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rp1 G A 1: 4,420,119 (GRCm39) T331M probably damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc9a9 T C 9: 94,818,364 (GRCm39) S253P possibly damaging Het
St8sia3 C T 18: 64,398,452 (GRCm39) probably benign Het
Strbp T C 2: 37,493,975 (GRCm39) D366G probably null Het
Tbx5 A G 5: 120,009,462 (GRCm39) T324A probably benign Het
Tex15 T A 8: 34,064,917 (GRCm39) I1449N possibly damaging Het
Tmtc3 C T 10: 100,307,339 (GRCm39) V222I probably benign Het
Top3b T C 16: 16,710,533 (GRCm39) S788P possibly damaging Het
Tsc22d4 A G 5: 137,756,785 (GRCm39) D71G probably benign Het
Tubgcp4 T A 2: 121,020,329 (GRCm39) V434E probably benign Het
Ufsp1 A G 5: 137,293,158 (GRCm39) Y36C possibly damaging Het
Unc79 T A 12: 103,091,962 (GRCm39) H1956Q possibly damaging Het
Usp34 A T 11: 23,389,011 (GRCm39) N2217I probably damaging Het
Vmn2r112 A T 17: 22,822,462 (GRCm39) D380V possibly damaging Het
Vmn2r13 A G 5: 109,322,938 (GRCm39) I117T probably benign Het
Vmn2r53 A G 7: 12,315,633 (GRCm39) Y729H probably damaging Het
Wnt3a A T 11: 59,140,587 (GRCm39) L310M probably damaging Het
Zc3h7a T C 16: 10,976,831 (GRCm39) Q155R possibly damaging Het
Other mutations in Psmd13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Psmd13 APN 7 140,477,534 (GRCm39) missense probably damaging 0.97
IGL02265:Psmd13 APN 7 140,462,431 (GRCm39) missense probably damaging 1.00
R0326:Psmd13 UTSW 7 140,477,624 (GRCm39) missense probably damaging 1.00
R1163:Psmd13 UTSW 7 140,477,367 (GRCm39) missense probably damaging 0.97
R1667:Psmd13 UTSW 7 140,470,522 (GRCm39) missense probably damaging 1.00
R1721:Psmd13 UTSW 7 140,463,430 (GRCm39) missense probably damaging 1.00
R1867:Psmd13 UTSW 7 140,463,430 (GRCm39) missense probably damaging 1.00
R1993:Psmd13 UTSW 7 140,478,107 (GRCm39) missense probably damaging 1.00
R2070:Psmd13 UTSW 7 140,477,561 (GRCm39) missense probably damaging 0.99
R2844:Psmd13 UTSW 7 140,477,653 (GRCm39) intron probably benign
R2845:Psmd13 UTSW 7 140,477,653 (GRCm39) intron probably benign
R2846:Psmd13 UTSW 7 140,477,653 (GRCm39) intron probably benign
R2869:Psmd13 UTSW 7 140,466,968 (GRCm39) missense probably damaging 0.99
R2869:Psmd13 UTSW 7 140,466,968 (GRCm39) missense probably damaging 0.99
R2871:Psmd13 UTSW 7 140,466,968 (GRCm39) missense probably damaging 0.99
R2871:Psmd13 UTSW 7 140,466,968 (GRCm39) missense probably damaging 0.99
R4358:Psmd13 UTSW 7 140,469,418 (GRCm39) intron probably benign
R4973:Psmd13 UTSW 7 140,466,766 (GRCm39) nonsense probably null
R5197:Psmd13 UTSW 7 140,474,374 (GRCm39) splice site probably null
R8239:Psmd13 UTSW 7 140,466,450 (GRCm39) missense probably damaging 1.00
R8798:Psmd13 UTSW 7 140,477,663 (GRCm39) nonsense probably null
R9516:Psmd13 UTSW 7 140,478,455 (GRCm39) missense
Z1176:Psmd13 UTSW 7 140,462,339 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGGCCTGGCACTTAACAGC -3'
(R):5'- ATCGTAGTAAGCGGTTTCTTTCAC -3'

Sequencing Primer
(F):5'- TGGCACTTAACAGCGTGGG -3'
(R):5'- ACCGAGCGTTCTGGAAAGTTC -3'
Posted On 2018-07-24