Incidental Mutation 'IGL01071:Psmd14'
ID50416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmd14
Ensembl Gene ENSMUSG00000026914
Gene Nameproteasome (prosome, macropain) 26S subunit, non-ATPase, 14
Synonyms2610312C03Rik, Pad1, 3200001M20Rik, POH1
Accession Numbers

Genbank: NM_021526; MGI: 1913284

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01071
Quality Score
Status
Chromosome2
Chromosomal Location61711694-61800376 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61800063 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 306 (T306A)
Ref Sequence ENSEMBL: ENSMUSP00000028278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028278] [ENSMUST00000048934]
Predicted Effect probably benign
Transcript: ENSMUST00000028278
AA Change: T306A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000028278
Gene: ENSMUSG00000026914
AA Change: T306A

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
JAB_MPN 30 165 3.71e-49 SMART
Pfam:MitMem_reg 173 307 9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048934
SMART Domains Protein: ENSMUSP00000046787
Gene: ENSMUSG00000035033

DomainStartEndE-ValueType
low complexity region 108 122 N/A INTRINSIC
TBOX 203 398 1.6e-125 SMART
Pfam:T-box_assoc 418 679 9.6e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157169
Meta Mutation Damage Score 0.0620 question?
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 component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]
Allele List at MGI

All alleles(42) : Gene trapped(42)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,953,153 D124A probably damaging Het
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Cadps C T 14: 12,509,091 probably null Het
Camk2a T C 18: 60,980,156 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Depdc1b A T 13: 108,357,441 Y121F probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr305 T C 7: 86,363,560 K259R possibly damaging Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Rab32 G A 10: 10,557,847 A81V probably damaging Het
Samd14 G A 11: 95,021,468 probably benign Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Tbkbp1 T C 11: 97,149,562 I9V probably damaging Het
Trip10 C A 17: 57,254,332 R196S possibly damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in Psmd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Psmd14 APN 2 61760682 missense probably damaging 1.00
IGL03036:Psmd14 APN 2 61783861 missense probably damaging 1.00
Agra UTSW 2 61761012 missense probably damaging 1.00
3-1:Psmd14 UTSW 2 61760982 missense probably damaging 1.00
R0506:Psmd14 UTSW 2 61800063 missense probably benign 0.01
R1006:Psmd14 UTSW 2 61797382 splice site probably null
R1518:Psmd14 UTSW 2 61760991 missense probably damaging 0.99
R1543:Psmd14 UTSW 2 61785530 missense probably benign 0.00
R1913:Psmd14 UTSW 2 61785456 missense possibly damaging 0.94
R2356:Psmd14 UTSW 2 61800007 missense probably benign
R6820:Psmd14 UTSW 2 61776724 missense probably benign
R7271:Psmd14 UTSW 2 61761012 missense probably damaging 1.00
Posted On2013-06-21