Incidental Mutation 'R0317:Pdhx'
ID 25428
Institutional Source Beutler Lab
Gene Symbol Pdhx
Ensembl Gene ENSMUSG00000010914
Gene Name pyruvate dehydrogenase complex, component X
Synonyms Pdx1
MMRRC Submission 038527-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0317 (G1)
Quality Score 225
Status Not validated
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: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.8%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,243,459 (GRCm39) V1774A probably damaging Het
Adam34 G A 8: 44,105,288 (GRCm39) P119L probably benign Het
Ap3b2 T C 7: 81,113,429 (GRCm39) probably null Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Bcl11a A T 11: 24,122,697 (GRCm39) probably null Het
Cab39 A G 1: 85,776,881 (GRCm39) E322G probably damaging Het
Cad C A 5: 31,229,665 (GRCm39) P1382Q probably benign Het
Cc2d2a T C 5: 43,864,243 (GRCm39) probably null Het
Cela2a A T 4: 141,549,011 (GRCm39) probably null Het
Cert1 C T 13: 96,770,629 (GRCm39) R487* probably null Het
Ces1e A C 8: 93,950,667 (GRCm39) I38S probably benign Het
Ces1f A T 8: 93,990,019 (GRCm39) F364I probably benign Het
Chgb A G 2: 132,635,731 (GRCm39) T558A probably benign Het
Cnpy4 C T 5: 138,191,074 (GRCm39) Q217* probably null Het
Crlf1 A G 8: 70,951,249 (GRCm39) T43A probably benign Het
Dnah7b T A 1: 46,173,816 (GRCm39) M707K probably damaging Het
Ets2 G A 16: 95,513,193 (GRCm39) S123N probably damaging Het
Fry T C 5: 150,394,933 (GRCm39) F304S probably damaging Het
Gadd45gip1 G A 8: 85,560,745 (GRCm39) R120H probably benign Het
Gbf1 A G 19: 46,242,459 (GRCm39) T96A probably benign Het
Ggn T A 7: 28,870,515 (GRCm39) M1K probably null Het
Gm5239 A G 18: 35,669,969 (GRCm39) T112A probably benign Het
Insyn2b C A 11: 34,352,826 (GRCm39) D289E possibly damaging Het
Kifbp A T 10: 62,413,861 (GRCm39) probably null Het
Lrrc15 A T 16: 30,092,561 (GRCm39) H259Q probably benign Het
Lysmd4 A G 7: 66,876,045 (GRCm39) Y236C probably damaging Het
Med29 T C 7: 28,086,284 (GRCm39) T175A possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Myh1 T C 11: 67,108,338 (GRCm39) L1308P probably damaging Het
Nphp4 T A 4: 152,636,388 (GRCm39) probably null Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pgm5 A G 19: 24,801,763 (GRCm39) I155T possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Phactr4 T A 4: 132,114,241 (GRCm39) K51I probably damaging Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Rab11a A G 9: 64,632,835 (GRCm39) S24P probably damaging Het
Rasef T C 4: 73,666,799 (GRCm39) Q160R probably damaging Het
Rbl2 A G 8: 91,813,772 (GRCm39) D339G probably benign Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rfc1 A T 5: 65,453,395 (GRCm39) probably null Het
Scarb1 A G 5: 125,366,756 (GRCm39) V59A probably damaging Het
Slc2a4 C T 11: 69,837,182 (GRCm39) V85M probably damaging Het
Slc6a12 A G 6: 121,335,584 (GRCm39) I291V possibly damaging Het
Slco3a1 A C 7: 74,154,174 (GRCm39) Y104D probably damaging Het
Suz12 T A 11: 79,889,904 (GRCm39) D13E probably damaging Het
Tlr1 G T 5: 65,083,310 (GRCm39) C422* probably null Het
Tmco1 T C 1: 167,153,462 (GRCm39) V114A probably damaging Het
Trpa1 T C 1: 14,951,856 (GRCm39) T948A probably benign Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Ufsp2 G A 8: 46,445,270 (GRCm39) probably null Het
Veph1 T C 3: 66,079,396 (GRCm39) D373G probably benign Het
Vmn1r206 A G 13: 22,805,130 (GRCm39) S26P possibly 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
Wnk4 T C 11: 101,159,630 (GRCm39) S612P probably benign Het
Zfp503 T C 14: 22,036,527 (GRCm39) K130E probably benign Het
Zkscan16 G A 4: 58,957,602 (GRCm39) C628Y possibly damaging 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
R0152: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'- GCCCAGAACATGAATGAAGCTGACC -3'
(R):5'- AGGCTGCTTCCTTCATAGCATGTC -3'

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