Incidental Mutation 'R3937:Pdhx'
ID 307204
Institutional Source Beutler Lab
Gene Symbol Pdhx
Ensembl Gene ENSMUSG00000010914
Gene Name pyruvate dehydrogenase complex, component X
Synonyms Pdx1
MMRRC Submission 040921-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3937 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 102851420-102903858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102852564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 433 (N433S)
Ref Sequence ENSEMBL: ENSMUSP00000011058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011058]
AlphaFold Q8BKZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000011058
AA Change: N433S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000011058
Gene: ENSMUSG00000010914
AA Change: N433S

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
Meta Mutation Damage Score 0.5148 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T G 4: 148,026,510 (GRCm39) S343R possibly damaging Het
Abca8b G T 11: 109,865,393 (GRCm39) P355T probably benign Het
Abhd15 T C 11: 77,406,764 (GRCm39) V247A probably benign Het
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Chpf A T 1: 75,454,184 (GRCm39) V198E probably damaging Het
Cp C T 3: 20,025,198 (GRCm39) P386S probably damaging Het
Cth A G 3: 157,625,677 (GRCm39) I107T possibly damaging Het
Ctrc T C 4: 141,567,632 (GRCm39) D157G probably damaging Het
D630003M21Rik A G 2: 158,042,280 (GRCm39) Y889H probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Esyt3 A T 9: 99,218,245 (GRCm39) I130K probably benign Het
F13a1 A T 13: 37,100,875 (GRCm39) V423D probably damaging Het
Faf1 T C 4: 109,614,889 (GRCm39) probably benign Het
Fam227b A T 2: 125,968,980 (GRCm39) D31E probably benign Het
Fastkd2 A G 1: 63,776,995 (GRCm39) D377G possibly damaging Het
Fbxl6 G A 15: 76,420,824 (GRCm39) R384* probably null Het
Fcamr A T 1: 130,732,313 (GRCm39) H44L probably damaging Het
Fhod3 A G 18: 25,223,818 (GRCm39) N1055D probably benign Het
Garem1 A T 18: 21,281,863 (GRCm39) Y164* probably null Het
Gemin4 C T 11: 76,103,714 (GRCm39) C349Y probably damaging Het
Gnal A G 18: 67,268,441 (GRCm39) probably null Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hectd3 T C 4: 116,855,727 (GRCm39) V409A probably benign Het
Hps6 A G 19: 45,992,492 (GRCm39) E143G probably damaging Het
Hspa4 T A 11: 53,161,776 (GRCm39) I459L probably benign Het
Ighv3-6 G A 12: 114,252,061 (GRCm39) Q21* probably null Het
Ints3 G A 3: 90,311,294 (GRCm39) R438* probably null Het
Jmjd6 T C 11: 116,731,991 (GRCm39) N237D probably benign Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga2 C A 12: 67,267,980 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nalcn T A 14: 123,607,357 (GRCm39) D704V probably benign Het
Nes A T 3: 87,878,543 (GRCm39) M12L probably benign Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or10al2 A G 17: 37,983,858 (GRCm39) T315A probably benign Het
Or2f1 T A 6: 42,721,010 (GRCm39) I13N probably damaging Het
Or5j3 T A 2: 86,128,360 (GRCm39) S67T probably damaging Het
Pcdha2 T C 18: 37,074,376 (GRCm39) V669A probably benign Het
Pip5kl1 A G 2: 32,469,124 (GRCm39) R261G probably damaging Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Ptpru T C 4: 131,501,615 (GRCm39) N1207S probably damaging Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rims2 A G 15: 39,301,241 (GRCm39) E324G probably damaging Het
Sema6d A T 2: 124,498,770 (GRCm39) I227L probably benign Het
Smarcad1 T G 6: 65,091,320 (GRCm39) L1014V probably damaging Het
Spag9 T G 11: 93,935,305 (GRCm39) S39A possibly damaging Het
Spag9 T C 11: 93,935,243 (GRCm39) V18A possibly damaging Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Tcea3 T A 4: 135,982,454 (GRCm39) probably benign Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Vmn1r212 A T 13: 23,067,358 (GRCm39) V325E unknown Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Vmn2r57 A G 7: 41,077,554 (GRCm39) M204T probably damaging Het
Wdfy3 A T 5: 102,092,105 (GRCm39) Y411* probably null Het
Zfp335 G T 2: 164,752,620 (GRCm39) D41E probably 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
R0317:Pdhx UTSW 2 102,858,625 (GRCm39) missense probably benign 0.04
R2351:Pdhx UTSW 2 102,854,562 (GRCm39) nonsense probably null
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'- AGTCGCATGGGATTCTCTAGG -3'
(R):5'- ACCTCCAGTTGAGTACTCCCTG -3'

Sequencing Primer
(F):5'- CGCATGGGATTCTCTAGGTTTGC -3'
(R):5'- GTTGAGTACTCCCTGTTTGATAATAG -3'
Posted On 2015-04-17