Incidental Mutation 'R4713:Dlat'
ID 353379
Institutional Source Beutler Lab
Gene Symbol Dlat
Ensembl Gene ENSMUSG00000000168
Gene Name dihydrolipoamide S-acetyltransferase
Synonyms 6332404G05Rik, PDC-E2
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 50545933-50571080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 50555781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 412 (A412E)
Ref Sequence ENSEMBL: ENSMUSP00000034567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034567]
AlphaFold Q8BMF4
Predicted Effect probably benign
Transcript: ENSMUST00000034567
AA Change: A412E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034567
Gene: ENSMUSG00000000168
AA Change: A412E

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: ENSMUST00000126933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155417
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging Het
Other mutations in Dlat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Dlat APN 9 50,556,332 (GRCm39) splice site probably benign
IGL00870:Dlat APN 9 50,562,169 (GRCm39) missense probably damaging 1.00
R0440:Dlat UTSW 9 50,556,419 (GRCm39) splice site probably null
R0530:Dlat UTSW 9 50,548,869 (GRCm39) missense probably damaging 1.00
R0745:Dlat UTSW 9 50,565,008 (GRCm39) missense probably damaging 0.99
R1870:Dlat UTSW 9 50,548,874 (GRCm39) missense probably damaging 0.99
R3237:Dlat UTSW 9 50,549,331 (GRCm39) missense possibly damaging 0.81
R3696:Dlat UTSW 9 50,562,176 (GRCm39) missense possibly damaging 0.63
R3715:Dlat UTSW 9 50,549,354 (GRCm39) missense probably damaging 1.00
R3924:Dlat UTSW 9 50,569,490 (GRCm39) missense possibly damaging 0.55
R4016:Dlat UTSW 9 50,560,931 (GRCm39) critical splice donor site probably null
R4197:Dlat UTSW 9 50,547,826 (GRCm39) missense probably damaging 1.00
R4789:Dlat UTSW 9 50,570,670 (GRCm39) missense probably benign
R5893:Dlat UTSW 9 50,555,439 (GRCm39) splice site probably benign
R6138:Dlat UTSW 9 50,556,417 (GRCm39) splice site probably null
R6778:Dlat UTSW 9 50,562,157 (GRCm39) missense probably damaging 1.00
R7010:Dlat UTSW 9 50,569,274 (GRCm39) missense probably damaging 1.00
R8065:Dlat UTSW 9 50,569,149 (GRCm39) missense possibly damaging 0.67
R8677:Dlat UTSW 9 50,570,007 (GRCm39) missense probably damaging 0.99
R8724:Dlat UTSW 9 50,560,967 (GRCm39) missense probably damaging 1.00
R8725:Dlat UTSW 9 50,560,967 (GRCm39) missense probably damaging 1.00
R8742:Dlat UTSW 9 50,560,967 (GRCm39) missense probably damaging 1.00
R8745:Dlat UTSW 9 50,560,967 (GRCm39) missense probably damaging 1.00
R8753:Dlat UTSW 9 50,560,967 (GRCm39) missense probably damaging 1.00
R8754:Dlat UTSW 9 50,560,967 (GRCm39) missense probably damaging 1.00
R9111:Dlat UTSW 9 50,570,906 (GRCm39) unclassified probably benign
R9777:Dlat UTSW 9 50,562,208 (GRCm39) missense probably damaging 0.99
U15987:Dlat UTSW 9 50,556,417 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TCCTAGACTGGCCAAAGCAG -3'
(R):5'- CTGTGGAGATTGAACCAGCTAC -3'

Sequencing Primer
(F):5'- GGCCAAAGCAGAGGTTTCTTTACC -3'
(R):5'- GTGGAGATTGAACCAGCTACTCCTC -3'
Posted On 2015-10-21