Incidental Mutation 'IGL00840:Dbt'
ID 278000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbt
Ensembl Gene ENSMUSG00000000340
Gene Name dihydrolipoamide branched chain transacylase E2
Synonyms dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, D3Wsu60e, dihydrolipoyl transacylase, BCKAD E2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00840
Quality Score
Status
Chromosome 3
Chromosomal Location 116306776-116343630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116339763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 384 (G384S)
Ref Sequence ENSEMBL: ENSMUSP00000000349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000349]
AlphaFold P53395
Predicted Effect probably benign
Transcript: ENSMUST00000000349
AA Change: G384S

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: G384S

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
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,180,363 (GRCm39) Y1764C probably damaging Het
Agbl3 T C 6: 34,776,094 (GRCm39) V200A possibly damaging Het
Akr1b10 T C 6: 34,371,041 (GRCm39) S264P possibly damaging Het
Camkmt T G 17: 85,765,551 (GRCm39) L319* probably null Het
Cdhr2 T C 13: 54,867,965 (GRCm39) W513R probably damaging Het
Cts8 T C 13: 61,399,392 (GRCm39) Y189C probably damaging Het
Cyp2d10 T A 15: 82,288,691 (GRCm39) T264S probably benign Het
Dnah8 G A 17: 31,009,915 (GRCm39) V3769M probably damaging Het
Dnajc16 C A 4: 141,495,314 (GRCm39) G468V probably damaging Het
Eif3d A T 15: 77,846,069 (GRCm39) N351K probably benign Het
F5 T C 1: 164,007,093 (GRCm39) M299T probably benign Het
Fcamr G A 1: 130,740,951 (GRCm39) V457M probably benign Het
Heatr5b A G 17: 79,072,866 (GRCm39) L1599P probably damaging Het
Kl A T 5: 150,904,252 (GRCm39) I335F possibly damaging Het
Knop1 A G 7: 118,452,021 (GRCm39) Y233H probably damaging Het
Lhcgr T C 17: 89,061,164 (GRCm39) probably benign Het
Lypd11 A T 7: 24,422,931 (GRCm39) L129H probably damaging Het
Macrod2 A T 2: 142,018,578 (GRCm39) N237I possibly damaging Het
Myo7a T C 7: 97,700,866 (GRCm39) S2168G probably benign Het
Naxe T C 3: 87,965,290 (GRCm39) I108V probably benign Het
Ncbp1 T A 4: 46,161,307 (GRCm39) W428R probably damaging Het
Nxpe3 T C 16: 55,664,595 (GRCm39) I542V probably damaging Het
Phkb T A 8: 86,684,216 (GRCm39) S424R probably benign Het
Rgs20 C T 1: 5,140,238 (GRCm39) V55I probably benign Het
Ros1 T G 10: 52,020,969 (GRCm39) T648P possibly damaging Het
Rpgr T C X: 10,074,948 (GRCm39) I233V possibly damaging Het
Slc25a31 T C 3: 40,679,308 (GRCm39) S258P probably benign Het
Soat1 A C 1: 156,261,766 (GRCm39) V414G probably damaging Het
St18 A T 1: 6,903,818 (GRCm39) E693V probably damaging Het
Svil T C 18: 5,063,555 (GRCm39) V1029A probably benign Het
Tnfaip3 C A 10: 18,880,874 (GRCm39) V398L probably damaging Het
Ubap1 A G 4: 41,379,562 (GRCm39) T259A probably benign Het
Wdr7 A G 18: 64,060,398 (GRCm39) E1347G possibly damaging 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
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
R0190:Dbt UTSW 3 116,332,736 (GRCm39) critical splice acceptor site probably null
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
Posted On 2015-04-16