Incidental Mutation 'R0152:Pdhx'
ID 22769
Institutional Source Beutler Lab
Gene Symbol Pdhx
Ensembl Gene ENSMUSG00000010914
Gene Name pyruvate dehydrogenase complex, component X
Synonyms Pdx1
MMRRC Submission 038435-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0152 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 102851420-102903858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102858625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 393 (V393A)
Ref Sequence ENSEMBL: ENSMUSP00000011058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011058] [ENSMUST00000132449]
AlphaFold Q8BKZ9
Predicted Effect probably benign
Transcript: ENSMUST00000011058
AA Change: V393A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000011058
Gene: ENSMUSG00000010914
AA Change: V393A

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
Pfam:Biotin_lipoyl 57 131 1.3e-21 PFAM
low complexity region 148 172 N/A INTRINSIC
Pfam:E3_binding 182 217 5e-9 PFAM
low complexity region 233 249 N/A INTRINSIC
Pfam:2-oxoacid_dh 272 501 8.4e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132449
SMART Domains Protein: ENSMUSP00000119172
Gene: ENSMUSG00000010914

DomainStartEndE-ValueType
Pfam:Biotin_lipoyl 5 66 1.3e-14 PFAM
low complexity region 83 107 N/A INTRINSIC
Pfam:E3_binding 115 153 6.1e-14 PFAM
low complexity region 168 184 N/A INTRINSIC
Meta Mutation Damage Score 0.1302 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 87% (40/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,688 (GRCm39) D834G probably damaging Het
Abca13 T A 11: 9,531,724 (GRCm39) H4650Q probably damaging Het
Aqr T A 2: 113,989,491 (GRCm39) T111S probably benign Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgap44 G T 11: 64,902,745 (GRCm39) A574E probably benign Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Car5a T A 8: 122,643,185 (GRCm39) N273I probably damaging Het
Cd4 G A 6: 124,844,709 (GRCm39) Q359* probably null Het
Cgrrf1 G A 14: 47,091,370 (GRCm39) C298Y probably damaging Het
Clip3 G A 7: 30,002,857 (GRCm39) A416T probably benign Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif3e G A 15: 43,115,632 (GRCm39) A378V possibly damaging Het
Ercc6 C G 14: 32,268,862 (GRCm39) probably benign Het
Eri2 A G 7: 119,389,606 (GRCm39) V104A probably damaging Het
Exph5 T A 9: 53,264,504 (GRCm39) probably null Het
Hmcn1 A T 1: 150,539,630 (GRCm39) Y2954N probably benign Het
Itga2 C T 13: 115,002,850 (GRCm39) G547R probably benign Het
Kbtbd11 T C 8: 15,077,428 (GRCm39) V9A probably damaging Het
Ldb2 T C 5: 44,699,141 (GRCm39) D99G possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Mgarp T C 3: 51,296,384 (GRCm39) D228G probably benign Het
Myh14 A T 7: 44,272,605 (GRCm39) L1441Q probably damaging Het
Obscn T C 11: 58,943,402 (GRCm39) D4810G probably benign Het
Or10ak9 T A 4: 118,726,083 (GRCm39) I34N possibly damaging Het
Or14c40 A T 7: 86,313,719 (GRCm39) Y283F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b12 A G 19: 12,897,472 (GRCm39) V67A possibly damaging Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdpk1 C T 17: 24,325,920 (GRCm39) R92H possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc26a4 T C 12: 31,579,497 (GRCm39) I588M probably damaging Het
Slc9a2 A G 1: 40,781,964 (GRCm39) T398A probably damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Usp3 T C 9: 66,447,432 (GRCm39) T181A probably damaging Het
Vars2 A G 17: 35,970,919 (GRCm39) L637P probably damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Zbtb38 T C 9: 96,568,333 (GRCm39) Y917C probably damaging Het
Zfp68 T C 5: 138,604,875 (GRCm39) K445E probably damaging Het
Zmynd10 A G 9: 107,428,144 (GRCm39) probably null Het
Other mutations in Pdhx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02147:Pdhx APN 2 102,860,686 (GRCm39) unclassified probably benign
IGL02450:Pdhx APN 2 102,872,594 (GRCm39) missense probably benign 0.00
R0317:Pdhx UTSW 2 102,858,625 (GRCm39) missense probably benign 0.04
R2351:Pdhx UTSW 2 102,854,562 (GRCm39) nonsense probably null
R3937:Pdhx UTSW 2 102,852,564 (GRCm39) missense probably damaging 1.00
R3950:Pdhx UTSW 2 102,865,586 (GRCm39) missense probably damaging 0.99
R4546:Pdhx UTSW 2 102,903,742 (GRCm39) missense probably null 0.99
R4677:Pdhx UTSW 2 102,903,811 (GRCm39) splice site probably null
R4744:Pdhx UTSW 2 102,872,641 (GRCm39) missense probably benign 0.01
R4996:Pdhx UTSW 2 102,860,657 (GRCm39) missense probably damaging 1.00
R5000:Pdhx UTSW 2 102,871,385 (GRCm39) splice site probably null
R5076:Pdhx UTSW 2 102,871,422 (GRCm39) missense probably damaging 0.99
R5682:Pdhx UTSW 2 102,865,685 (GRCm39) missense probably benign 0.00
R6246:Pdhx UTSW 2 102,877,137 (GRCm39) missense probably damaging 1.00
R6850:Pdhx UTSW 2 102,871,445 (GRCm39) missense probably damaging 1.00
R7141:Pdhx UTSW 2 102,903,659 (GRCm39) missense probably benign 0.21
R7219:Pdhx UTSW 2 102,858,760 (GRCm39) missense probably benign 0.01
R7460:Pdhx UTSW 2 102,877,124 (GRCm39) missense probably damaging 1.00
R7552:Pdhx UTSW 2 102,877,099 (GRCm39) missense probably benign 0.01
R8325:Pdhx UTSW 2 102,872,597 (GRCm39) missense probably benign 0.08
R9163:Pdhx UTSW 2 102,852,561 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCCAGAACATGAATGAAGCTGAC -3'
(R):5'- AGGCTGCTTCCTTCATAGCATGTC -3'

Sequencing Primer
(F):5'- GAAGCTGACCTCTAATTTACATGC -3'
(R):5'- ATGTCTTTTCCTGCTTACAGCAAATG -3'
Posted On 2013-04-16