Incidental Mutation 'R0190:Dbt'
ID 23158
Institutional Source Beutler Lab
Gene Symbol Dbt
Ensembl Gene ENSMUSG00000000340
Gene Name dihydrolipoamide branched chain transacylase E2
Synonyms dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, D3Wsu60e, dihydrolipoyl transacylase, BCKAD E2
MMRRC Submission 038451-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0190 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 116306776-116343630 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 116332736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000349] [ENSMUST00000197201] [ENSMUST00000199614]
AlphaFold P53395
Predicted Effect probably null
Transcript: ENSMUST00000000349
SMART Domains Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340

DomainStartEndE-ValueType
Pfam:Biotin_lipoyl 65 138 2.8e-22 PFAM
Pfam:E3_binding 171 206 4.4e-18 PFAM
low complexity region 218 232 N/A INTRINSIC
Pfam:2-oxoacid_dh 248 479 8.5e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196376
Predicted Effect probably null
Transcript: ENSMUST00000197201
Predicted Effect probably benign
Transcript: ENSMUST00000199614
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 91.6%
  • 20x: 72.5%
Validation Efficiency 75% (45/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in postnatal lethality, pallor, respiratory distress, and an increase in branched-chain amino acids in the blood and urine. Homozygotes model Maple Syrup Urine Disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,429 (GRCm39) probably null Het
Aff2 CA CAAA X: 68,892,711 (GRCm39) probably null Het
Ankrd34a A G 3: 96,505,105 (GRCm39) D103G probably damaging Het
Atp1b2 T C 11: 69,492,388 (GRCm39) D224G probably damaging Het
Atxn10 A G 15: 85,220,730 (GRCm39) D22G possibly damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Caskin1 C T 17: 24,723,596 (GRCm39) L795F possibly damaging Het
Cdk12 T C 11: 98,132,657 (GRCm39) probably null Het
Crtc2 A G 3: 90,166,716 (GRCm39) H91R probably damaging Het
Dda1 C A 8: 71,924,877 (GRCm39) Y41* probably null Het
Dnah2 T A 11: 69,326,075 (GRCm39) D3692V probably damaging Het
Dpep1 A G 8: 123,927,447 (GRCm39) T334A probably benign Het
Enthd1 C T 15: 80,418,695 (GRCm39) probably null Het
Fpr-rs6 T A 17: 20,402,741 (GRCm39) I207F probably benign Het
Fsip2 T A 2: 82,815,521 (GRCm39) S3751R possibly damaging Het
Gigyf2 A T 1: 87,356,410 (GRCm39) probably benign Het
Gtf3c4 C A 2: 28,730,140 (GRCm39) D34Y probably benign Het
Iftap G A 2: 101,416,775 (GRCm39) S58L probably benign Het
Igfn1 A T 1: 135,889,790 (GRCm39) V2419E probably damaging Het
Kank1 A T 19: 25,386,647 (GRCm39) I79L probably benign Het
Kif21b A G 1: 136,098,957 (GRCm39) H1415R probably benign Het
Mad2l1 T C 6: 66,516,862 (GRCm39) S185P possibly damaging Het
Mettl18 A G 1: 163,823,991 (GRCm39) E104G probably damaging Het
Mrgprb2 G A 7: 48,202,525 (GRCm39) H67Y possibly damaging Het
Mrgprd G A 7: 144,875,439 (GRCm39) M103I probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Npc1 G A 18: 12,324,887 (GRCm39) T1202I probably damaging Het
Nucks1 A G 1: 131,852,329 (GRCm39) D60G probably damaging Het
Or10g7 A G 9: 39,905,840 (GRCm39) I245V probably benign Het
Or13f5 G C 4: 52,825,613 (GRCm39) W72S probably damaging Het
Or4a72 T A 2: 89,405,302 (GRCm39) Y256F probably damaging Het
Paqr8 A G 1: 21,005,271 (GRCm39) T142A probably benign Het
Pdss1 T C 2: 22,796,843 (GRCm39) S119P probably damaging Het
Plcl2 A G 17: 50,914,671 (GRCm39) D560G probably benign Het
Ppm1b T A 17: 85,301,531 (GRCm39) V137E probably damaging Het
Ppp1r16b A C 2: 158,537,983 (GRCm39) K35Q probably damaging Het
Prkd2 A T 7: 16,603,815 (GRCm39) E832V probably damaging Het
Rab34 G T 11: 78,082,232 (GRCm39) K191N possibly damaging Het
Rad51ap2 A C 12: 11,508,540 (GRCm39) T821P probably benign Het
Rbm19 A G 5: 120,282,111 (GRCm39) T823A probably benign Het
Rpf2 T G 10: 40,103,597 (GRCm39) H106P probably damaging Het
Schip1 A G 3: 68,533,177 (GRCm39) M453V probably benign Het
Sema5a T A 15: 32,562,920 (GRCm39) N310K possibly damaging Het
Sf3b1 T C 1: 55,029,465 (GRCm39) D1179G probably damaging Het
Skint2 A T 4: 112,473,729 (GRCm39) T4S possibly damaging Het
Slc22a5 A T 11: 53,760,241 (GRCm39) Y358* probably null Het
Slc34a1 T C 13: 55,556,914 (GRCm39) M251T probably benign Het
Slc44a5 A G 3: 153,944,755 (GRCm39) D124G probably null Het
Slc9b1 G A 3: 135,063,434 (GRCm39) E73K unknown Het
Ssbp2 T C 13: 91,817,829 (GRCm39) L156P probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Trim47 A G 11: 115,997,053 (GRCm39) V568A probably damaging Het
Ttn A T 2: 76,718,324 (GRCm39) probably benign Het
Ttpa A T 4: 20,021,260 (GRCm39) I74F probably damaging Het
Vmn2r52 T C 7: 9,905,315 (GRCm39) I175V probably benign Het
Wrn C T 8: 33,731,011 (GRCm39) C1350Y probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp422 A T 6: 116,603,572 (GRCm39) D142E probably damaging Het
Zfp473 A T 7: 44,382,612 (GRCm39) C574S probably damaging Het
Zfp638 T A 6: 83,905,946 (GRCm39) M37K probably damaging Het
Zfp976 C A 7: 42,291,948 (GRCm39) probably benign Het
Other mutations in Dbt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Dbt APN 3 116,332,930 (GRCm39) missense probably benign
IGL00660:Dbt APN 3 116,339,944 (GRCm39) missense probably damaging 1.00
IGL00839:Dbt APN 3 116,339,763 (GRCm39) missense probably benign 0.21
IGL00840:Dbt APN 3 116,339,763 (GRCm39) missense probably benign 0.21
IGL00841:Dbt APN 3 116,339,763 (GRCm39) missense probably benign 0.21
IGL00852:Dbt APN 3 116,339,763 (GRCm39) missense probably benign 0.21
IGL00861:Dbt APN 3 116,339,763 (GRCm39) missense probably benign 0.21
IGL00955:Dbt APN 3 116,339,763 (GRCm39) missense probably benign 0.21
IGL00956:Dbt APN 3 116,339,763 (GRCm39) missense probably benign 0.21
IGL01475:Dbt APN 3 116,313,908 (GRCm39) missense possibly damaging 0.92
IGL01521:Dbt APN 3 116,327,032 (GRCm39) missense probably benign 0.00
IGL01806:Dbt APN 3 116,326,954 (GRCm39) missense probably damaging 1.00
IGL03288:Dbt APN 3 116,341,847 (GRCm39) makesense probably null
R0025:Dbt UTSW 3 116,328,432 (GRCm39) missense probably benign 0.22
R0066:Dbt UTSW 3 116,337,478 (GRCm39) missense probably benign 0.00
R0066:Dbt UTSW 3 116,337,478 (GRCm39) missense probably benign 0.00
R1650:Dbt UTSW 3 116,328,381 (GRCm39) splice site probably null
R1750:Dbt UTSW 3 116,339,943 (GRCm39) missense probably benign 0.18
R2130:Dbt UTSW 3 116,332,773 (GRCm39) missense probably damaging 1.00
R2131:Dbt UTSW 3 116,332,773 (GRCm39) missense probably damaging 1.00
R2133:Dbt UTSW 3 116,332,773 (GRCm39) missense probably damaging 1.00
R2897:Dbt UTSW 3 116,317,061 (GRCm39) missense probably damaging 1.00
R3442:Dbt UTSW 3 116,341,840 (GRCm39) missense probably benign
R4241:Dbt UTSW 3 116,326,945 (GRCm39) missense probably damaging 1.00
R4681:Dbt UTSW 3 116,326,963 (GRCm39) missense probably damaging 1.00
R4724:Dbt UTSW 3 116,326,945 (GRCm39) missense probably damaging 1.00
R4736:Dbt UTSW 3 116,332,781 (GRCm39) missense probably damaging 0.99
R4737:Dbt UTSW 3 116,332,781 (GRCm39) missense probably damaging 0.99
R4738:Dbt UTSW 3 116,332,781 (GRCm39) missense probably damaging 0.99
R4740:Dbt UTSW 3 116,332,781 (GRCm39) missense probably damaging 0.99
R4809:Dbt UTSW 3 116,339,992 (GRCm39) missense probably damaging 1.00
R4823:Dbt UTSW 3 116,317,036 (GRCm39) missense probably damaging 1.00
R4861:Dbt UTSW 3 116,341,727 (GRCm39) missense probably benign 0.00
R4861:Dbt UTSW 3 116,341,727 (GRCm39) missense probably benign 0.00
R5148:Dbt UTSW 3 116,321,893 (GRCm39) intron probably benign
R5327:Dbt UTSW 3 116,322,220 (GRCm39) intron probably benign
R5700:Dbt UTSW 3 116,313,952 (GRCm39) missense probably damaging 0.97
R5931:Dbt UTSW 3 116,317,074 (GRCm39) missense possibly damaging 0.80
R6463:Dbt UTSW 3 116,333,409 (GRCm39) missense possibly damaging 0.51
R7841:Dbt UTSW 3 116,339,746 (GRCm39) missense possibly damaging 0.85
R8122:Dbt UTSW 3 116,313,891 (GRCm39) nonsense probably null
R8385:Dbt UTSW 3 116,317,039 (GRCm39) missense probably damaging 1.00
R8941:Dbt UTSW 3 116,339,698 (GRCm39) missense probably damaging 0.99
R9734:Dbt UTSW 3 116,339,704 (GRCm39) missense probably benign
RF008:Dbt UTSW 3 116,341,717 (GRCm39) nonsense probably null
RF016:Dbt UTSW 3 116,333,363 (GRCm39) missense probably damaging 1.00
Z1177:Dbt UTSW 3 116,339,740 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTGCTTACCCAGAGGTCCTGAG -3'
(R):5'- TGTGAACACTGGAGGCTTTGCTATC -3'

Sequencing Primer
(F):5'- ggtttccctgtgtatccctg -3'
(R):5'- CTATCGGCGTGGGAAAGGTC -3'
Posted On 2013-04-16