Incidental Mutation 'R0440:Dlat'
ID 46694
Institutional Source Beutler Lab
Gene Symbol Dlat
Ensembl Gene ENSMUSG00000000168
Gene Name dihydrolipoamide S-acetyltransferase
Synonyms 6332404G05Rik, PDC-E2
MMRRC Submission 038641-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0440 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 50545933-50571080 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 50556419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034567]
AlphaFold Q8BMF4
Predicted Effect probably null
Transcript: ENSMUST00000034567
SMART Domains Protein: ENSMUSP00000034567
Gene: ENSMUSG00000000168

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt G A 15: 83,112,694 (GRCm39) R30W probably damaging Het
Adam7 T C 14: 68,748,305 (GRCm39) probably null Het
Agl A T 3: 116,552,455 (GRCm39) L1158Q probably damaging Het
Akap9 T C 5: 4,114,569 (GRCm39) S66P probably damaging Het
Akr1c20 T A 13: 4,537,207 (GRCm39) D316V probably benign Het
App C A 16: 84,853,302 (GRCm39) E259* probably null Het
Arhgef4 A G 1: 34,784,529 (GRCm39) probably null Het
Armc9 G A 1: 86,121,984 (GRCm39) probably null Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Btaf1 C T 19: 36,964,053 (GRCm39) P875S probably damaging Het
Cc2d1b T A 4: 108,483,013 (GRCm39) probably null Het
Ccar1 C T 10: 62,616,236 (GRCm39) V165I possibly damaging Het
Ccdc106 A T 7: 5,063,244 (GRCm39) I250F probably damaging Het
Ccny T C 18: 9,332,917 (GRCm39) I205V probably benign Het
Cfap52 T A 11: 67,844,914 (GRCm39) I52L probably benign Het
Chd8 T A 14: 52,442,283 (GRCm39) T2096S possibly damaging Het
Clstn3 G A 6: 124,428,372 (GRCm39) T423I probably damaging Het
Col13a1 T C 10: 61,703,262 (GRCm39) D440G possibly damaging Het
Dclk3 G A 9: 111,298,231 (GRCm39) V592M probably damaging Het
Ddx31 A T 2: 28,747,144 (GRCm39) I208F probably damaging Het
Eml4 T C 17: 83,753,487 (GRCm39) probably null Het
Enpp2 T A 15: 54,710,633 (GRCm39) probably benign Het
Fryl T C 5: 73,244,315 (GRCm39) S38G possibly damaging Het
Gcnt1 G A 19: 17,307,680 (GRCm39) T15I probably benign Het
Gm21834 T C 17: 58,049,121 (GRCm39) T32A possibly damaging Het
Golga2 A G 2: 32,192,945 (GRCm39) D394G probably damaging Het
Gtf3c4 G T 2: 28,730,181 (GRCm39) probably null Het
Igkv4-69 A G 6: 69,261,253 (GRCm39) probably benign Het
Inpp5j T C 11: 3,451,150 (GRCm39) R500G possibly damaging Het
Kif5b A T 18: 6,226,980 (GRCm39) probably benign Het
Klhl36 A G 8: 120,603,290 (GRCm39) E515G probably damaging Het
Lifr C T 15: 7,186,672 (GRCm39) R59* probably null Het
Lrif1 A T 3: 106,641,714 (GRCm39) Q10L possibly damaging Het
Lrp8 A G 4: 107,726,295 (GRCm39) E908G probably damaging Het
Lrrc23 A T 6: 124,747,667 (GRCm39) D307E probably benign Het
Mpv17l T C 16: 13,762,583 (GRCm39) F27L probably damaging Het
Mta3 C T 17: 84,074,016 (GRCm39) A76V probably damaging Het
Muc5ac T A 7: 141,345,771 (GRCm39) Y202* probably null Het
Naprt A G 15: 75,762,918 (GRCm39) probably benign Het
Npr2 T A 4: 43,650,315 (GRCm39) V960D probably damaging Het
Oca2 A T 7: 56,073,100 (GRCm39) Y765F probably benign Het
Or2d2 A T 7: 106,727,939 (GRCm39) H220Q probably benign Het
Plxna2 T A 1: 194,326,712 (GRCm39) Y215* probably null Het
Prdm16 G A 4: 154,561,084 (GRCm39) probably benign Het
Ptn A G 6: 36,721,432 (GRCm39) S3P probably benign Het
Pus10 T C 11: 23,623,331 (GRCm39) probably benign Het
Rad21 A T 15: 51,831,754 (GRCm39) D442E probably benign Het
Rmdn2 A G 17: 79,975,384 (GRCm39) H291R probably damaging Het
Rp1 A G 1: 4,415,863 (GRCm39) S1750P probably damaging Het
Samd4b A T 7: 28,107,585 (GRCm39) I228N probably benign Het
Sdr9c7 G T 10: 127,734,822 (GRCm39) probably benign Het
Slc13a2 T C 11: 78,294,001 (GRCm39) N254D probably benign Het
Slc16a8 T A 15: 79,136,807 (GRCm39) I132F probably damaging Het
Slc18b1 T A 10: 23,694,976 (GRCm39) Y274N probably benign Het
Slc45a2 A T 15: 11,000,903 (GRCm39) M1L probably benign Het
Smc1b A G 15: 84,996,874 (GRCm39) probably benign Het
Stab2 T C 10: 86,785,792 (GRCm39) S617G probably benign Het
Stk10 A G 11: 32,554,190 (GRCm39) M626V probably damaging Het
Synpo2l T G 14: 20,711,466 (GRCm39) I385L possibly damaging Het
Tmprss11d T C 5: 86,486,671 (GRCm39) Y73C probably damaging Het
Ttc21b A G 2: 66,066,726 (GRCm39) V309A probably benign Het
Tubgcp6 A G 15: 88,987,268 (GRCm39) I1235T probably benign Het
Usp8 A G 2: 126,567,310 (GRCm39) I110V probably benign Het
Vps13c G A 9: 67,880,143 (GRCm39) G3442S probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp207 T A 11: 80,286,333 (GRCm39) probably benign Het
Zfp748 A C 13: 67,701,144 (GRCm39) probably null 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
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
R4713:Dlat UTSW 9 50,555,781 (GRCm39) missense probably benign
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'- GCTGGTTCAATCTCCACAGAGCAAA -3'
(R):5'- TCAATCTCGGAAGGGGCGAAGT -3'

Sequencing Primer
(F):5'- caagatgcggaggcggg -3'
(R):5'- ttgtgttggaggctatcctg -3'
Posted On 2013-06-11