Incidental Mutation 'IGL02147:Pdhx'
ID281833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdhx
Ensembl Gene ENSMUSG00000010914
Gene Namepyruvate dehydrogenase complex, component X
SynonymsPdx1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02147
Quality Score
Status
Chromosome2
Chromosomal Location103021075-103073513 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 103030341 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011058] [ENSMUST00000132449]
Predicted Effect probably benign
Transcript: ENSMUST00000011058
SMART Domains Protein: ENSMUSP00000011058
Gene: ENSMUSG00000010914

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
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,064,963 noncoding transcript Het
Acadsb T A 7: 131,425,881 probably benign Het
Ambra1 A G 2: 91,767,719 H75R probably benign Het
Arhgef28 T A 13: 97,961,314 I931F probably damaging Het
Cdk5 T C 5: 24,420,320 N165D probably benign Het
Col4a2 A T 8: 11,408,140 Y272F probably benign Het
Csde1 T A 3: 103,039,934 D67E probably damaging Het
Dhx34 T C 7: 16,204,003 H724R probably benign Het
Dhx57 T C 17: 80,260,323 D777G possibly damaging Het
Fat3 A C 9: 15,995,985 V2907G probably damaging Het
Fst T C 13: 114,454,360 Y290C probably damaging Het
Gm5065 T A 7: 5,359,733 I121N probably damaging Het
Ighg2b A T 12: 113,306,391 *336R probably null Het
Igkv4-92 C T 6: 68,755,252 S46N probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lmtk2 A G 5: 144,156,936 M244V possibly damaging Het
Mcoln1 T C 8: 3,508,379 F211S probably benign Het
Mib2 C A 4: 155,657,687 R209L probably benign Het
Msx3 C A 7: 140,048,885 V39L possibly damaging Het
Mtnr1b A G 9: 15,863,376 F129S probably damaging Het
Nr3c2 A G 8: 76,909,067 S266G probably damaging Het
Nup160 G T 2: 90,703,941 L703F probably benign Het
Olfr1093 A G 2: 86,786,150 N140S probably benign Het
Olfr95 T A 17: 37,210,986 Y289F probably damaging Het
Pcyt1a T A 16: 32,462,098 N105K probably damaging Het
Qpct T C 17: 79,070,716 V105A probably damaging Het
Ros1 A C 10: 52,120,895 F1227C probably damaging Het
Rrp12 A T 19: 41,886,181 V342E probably damaging Het
Sart3 A G 5: 113,762,943 probably benign Het
Slc6a18 T A 13: 73,668,162 K366M probably damaging Het
Smarca4 A G 9: 21,635,703 N175D probably damaging Het
Sox14 T C 9: 99,875,545 K47R probably damaging Het
Trcg1 A T 9: 57,245,849 I592F probably benign Het
Ush2a T C 1: 188,864,703 M3880T probably benign Het
Usp20 T C 2: 31,006,401 F172S probably damaging Het
Vmn2r4 C T 3: 64,398,361 probably benign Het
Other mutations in Pdhx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02450:Pdhx APN 2 103042249 missense probably benign 0.00
R0152:Pdhx UTSW 2 103028280 missense probably benign 0.04
R0317:Pdhx UTSW 2 103028280 missense probably benign 0.04
R2351:Pdhx UTSW 2 103024217 nonsense probably null
R3937:Pdhx UTSW 2 103022219 missense probably damaging 1.00
R3950:Pdhx UTSW 2 103035241 missense probably damaging 0.99
R4546:Pdhx UTSW 2 103073397 missense probably null 0.99
R4677:Pdhx UTSW 2 103073466 unclassified probably null
R4744:Pdhx UTSW 2 103042296 missense probably benign 0.01
R4996:Pdhx UTSW 2 103030312 missense probably damaging 1.00
R5000:Pdhx UTSW 2 103041040 splice site probably null
R5076:Pdhx UTSW 2 103041077 missense probably damaging 0.99
R5682:Pdhx UTSW 2 103035340 missense probably benign 0.00
R6246:Pdhx UTSW 2 103046792 missense probably damaging 1.00
R6850:Pdhx UTSW 2 103041100 missense probably damaging 1.00
R7141:Pdhx UTSW 2 103073314 missense probably benign 0.21
R7219:Pdhx UTSW 2 103028415 missense probably benign 0.01
R7460:Pdhx UTSW 2 103046779 missense probably damaging 1.00
R7552:Pdhx UTSW 2 103046754 missense probably benign 0.01
Posted On2015-04-16