Incidental Mutation 'IGL00870:Dlat'
ID10182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlat
Ensembl Gene ENSMUSG00000000168
Gene Namedihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
SynonymsPDC-E2, 6332404G05Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.379) question?
Stock #IGL00870
Quality Score
Status
Chromosome9
Chromosomal Location50634633-50659780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50650869 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 285 (L285P)
Ref Sequence ENSEMBL: ENSMUSP00000034567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034567]
Predicted Effect probably damaging
Transcript: ENSMUST00000034567
AA Change: L285P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034567
Gene: ENSMUSG00000000168
AA Change: L285P

DomainStartEndE-ValueType
Pfam:Biotin_lipoyl 91 164 4.3e-17 PFAM
low complexity region 183 210 N/A INTRINSIC
Pfam:Biotin_lipoyl 218 292 1.2e-17 PFAM
low complexity region 315 344 N/A INTRINSIC
Pfam:E3_binding 350 385 2.6e-18 PFAM
Pfam:2-oxoacid_dh 412 642 9.9e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155417
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the 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 enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,013,698 D4115E probably damaging Het
Asb5 T C 8: 54,583,660 probably null Het
Cpeb3 A T 19: 37,054,295 I569N probably damaging Het
Cpsf7 T C 19: 10,539,650 probably null Het
Dytn T C 1: 63,677,113 probably benign Het
Ears2 A T 7: 122,055,676 L123Q probably damaging Het
Gad2 T C 2: 22,629,971 V212A probably benign Het
Gon4l T C 3: 88,857,185 Y358H probably damaging Het
Gys1 T C 7: 45,448,013 probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Krtap20-2 G A 16: 89,205,987 G25D unknown Het
Lrif1 T C 3: 106,734,641 probably null Het
Naip2 A G 13: 100,152,060 probably benign Het
Olfr884 A T 9: 38,047,740 I173F probably damaging Het
Oxct1 T A 15: 4,101,818 L396Q probably damaging Het
Pclo A T 5: 14,539,983 R766W unknown Het
Pkhd1 T A 1: 20,571,390 I275F probably damaging Het
Rxfp3 A G 15: 11,036,215 F357S probably damaging Het
Rxfp3 A G 15: 11,036,305 V327A probably damaging Het
Serpinb2 A G 1: 107,523,070 I181V probably damaging Het
Smad5 A G 13: 56,723,667 D25G probably benign Het
Strada A G 11: 106,171,257 L82P probably damaging Het
Tek T A 4: 94,873,081 Y1079* probably null Het
Tenm3 T C 8: 48,417,132 T209A probably benign Het
Tnks1bp1 C T 2: 85,062,236 Q836* probably null Het
Toporsl T C 4: 52,610,172 S22P probably benign Het
Ttc17 T C 2: 94,371,733 probably null Het
Ttc39a A G 4: 109,442,345 probably benign Het
Vangl1 T C 3: 102,189,440 D60G probably damaging Het
Vmn1r13 A T 6: 57,210,113 M86L probably benign Het
Vmn1r220 C T 13: 23,184,477 M16I probably null Het
Other mutations in Dlat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Dlat APN 9 50645032 splice site probably benign
R0440:Dlat UTSW 9 50645119 splice site probably null
R0530:Dlat UTSW 9 50637569 missense probably damaging 1.00
R0745:Dlat UTSW 9 50653708 missense probably damaging 0.99
R1870:Dlat UTSW 9 50637574 missense probably damaging 0.99
R3237:Dlat UTSW 9 50638031 missense possibly damaging 0.81
R3696:Dlat UTSW 9 50650876 missense possibly damaging 0.63
R3715:Dlat UTSW 9 50638054 missense probably damaging 1.00
R3924:Dlat UTSW 9 50658190 missense possibly damaging 0.55
R4016:Dlat UTSW 9 50649631 critical splice donor site probably null
R4197:Dlat UTSW 9 50636526 missense probably damaging 1.00
R4713:Dlat UTSW 9 50644481 missense probably benign
R4789:Dlat UTSW 9 50659370 missense probably benign
R5893:Dlat UTSW 9 50644139 splice site probably benign
R6138:Dlat UTSW 9 50645117 splice site probably null
R6778:Dlat UTSW 9 50650857 missense probably damaging 1.00
R7010:Dlat UTSW 9 50657974 missense probably damaging 1.00
U15987:Dlat UTSW 9 50645117 splice site probably null
Posted On2012-12-06