Incidental Mutation 'IGL03018:Pdhb'
ID407977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdhb
Ensembl Gene ENSMUSG00000021748
Gene Namepyruvate dehydrogenase (lipoamide) beta
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.821) question?
Stock #IGL03018
Quality Score
Status
Chromosome14
Chromosomal Location8165996-8173025 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 8171537 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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