Incidental Mutation 'IGL03018:Pdhb'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdhb
Ensembl Gene ENSMUSG00000021748
Gene Namepyruvate dehydrogenase (lipoamide) beta
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.821) question?
Stock #IGL03018
Quality Score
Chromosomal Location8165996-8173025 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 8171537 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022268]
Predicted Effect probably benign
Transcript: ENSMUST00000022268
SMART Domains Protein: ENSMUSP00000022268
Gene: ENSMUSG00000021748

Transket_pyr 33 208 3.62e-58 SMART
Pfam:Transketolase_C 226 349 2.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225747
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 a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,702,451 V474E probably damaging Het
Casc1 A G 6: 145,183,305 F394S probably damaging Het
Cpsf6 A T 10: 117,367,956 D30E probably benign Het
Edem1 T C 6: 108,829,142 F135L probably damaging Het
Elf3 C T 1: 135,256,065 E239K possibly damaging Het
Farp1 C T 14: 121,102,169 A53V probably benign Het
Gli3 T A 13: 15,660,132 L400Q probably damaging Het
Gm7257 A G 9: 36,433,427 T84A possibly damaging Het
Gtf2i T A 5: 134,289,335 I109F possibly damaging Het
Lat2 A T 5: 134,602,591 I191N probably damaging Het
Mtf1 G A 4: 124,838,663 A505T probably benign Het
Naa30 G T 14: 49,173,240 E208D probably benign Het
Nlrp5 T C 7: 23,417,747 Y299H probably benign Het
Npc1 T A 18: 12,214,379 N195Y probably damaging Het
Olfr1101 T G 2: 86,989,005 Y57S probably damaging Het
Olfr1182 T C 2: 88,446,819 N40D probably damaging Het
Olfr453 A G 6: 42,744,814 Y259C probably damaging Het
Olfr830 T C 9: 18,876,227 M300T probably benign Het
Olfr832 A T 9: 18,944,881 I78F probably damaging Het
Pcdh9 G A 14: 93,015,576 A1217V probably null Het
Pknox2 A G 9: 36,954,697 Y75H probably damaging Het
Ptprn2 T C 12: 117,211,943 S748P probably damaging Het
Ranbp6 A G 19: 29,811,389 V521A probably damaging Het
Samd7 A G 3: 30,762,145 K347E probably damaging Het
Selenom A G 11: 3,516,508 D63G probably damaging Het
Sema6d T C 2: 124,659,600 V487A possibly damaging Het
Tapt1 A T 5: 44,204,324 M109K probably damaging Het
Trib1 T C 15: 59,654,484 F301S probably damaging Het
Tspyl1 T C 10: 34,283,116 V279A probably damaging Het
Ubr2 C T 17: 46,954,046 V1184I possibly damaging Het
Urb1 T C 16: 90,788,156 I526V probably benign Het
Vtcn1 A G 3: 100,883,910 D88G probably damaging Het
Yod1 T G 1: 130,718,958 L191V probably benign Het
Other mutations in Pdhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT1430001:Pdhb UTSW 14 8170425 missense probably damaging 1.00
R0426:Pdhb UTSW 14 8169801 missense probably damaging 1.00
R1019:Pdhb UTSW 14 8171442 missense probably benign 0.05
R3707:Pdhb UTSW 14 8170409 missense probably damaging 1.00
Posted On2016-08-02