Incidental Mutation 'IGL00546:Dbt'
ID 6773
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 # IGL00546
Quality Score
Status
Chromosome 3
Chromosomal Location 116306776-116343630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 116332930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 250 (K250Q)
Ref Sequence ENSEMBL: ENSMUSP00000000349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000349] [ENSMUST00000197201] [ENSMUST00000199614]
AlphaFold P53395
Predicted Effect probably benign
Transcript: ENSMUST00000000349
AA Change: K250Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: K250Q

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 benign
Transcript: ENSMUST00000197201
Predicted Effect probably benign
Transcript: ENSMUST00000199614
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik T C 17: 48,401,096 (GRCm39) V127A possibly damaging Het
9130008F23Rik C A 17: 41,191,004 (GRCm39) V142L possibly damaging Het
Adnp2 T C 18: 80,172,082 (GRCm39) T776A probably benign Het
Arid4a T A 12: 71,122,445 (GRCm39) V942E probably benign Het
Bdnf C T 2: 109,553,892 (GRCm39) P89S probably benign Het
Camsap3 A G 8: 3,652,077 (GRCm39) D302G probably damaging Het
Cnot6 A T 11: 49,576,093 (GRCm39) S158T probably benign Het
Exd2 A G 12: 80,527,321 (GRCm39) I171M probably benign Het
Ints14 A T 9: 64,880,074 (GRCm39) N196I probably benign Het
Krt79 G T 15: 101,838,308 (GRCm39) N482K probably benign Het
Loxhd1 G A 18: 77,493,672 (GRCm39) A678T probably damaging Het
Mrpl51 A G 6: 125,170,177 (GRCm39) probably benign Het
Mrtfb C A 16: 13,221,086 (GRCm39) A754D probably benign Het
Mrtfb T G 16: 13,221,089 (GRCm39) L766R possibly damaging Het
Nipsnap1 A G 11: 4,839,098 (GRCm39) E126G possibly damaging Het
Plxnb2 A G 15: 89,046,569 (GRCm39) probably benign Het
Semp2l1 A T 1: 32,585,748 (GRCm39) M54K probably benign Het
Slc15a5 A G 6: 138,020,536 (GRCm39) Y266H probably damaging Het
Ttn C A 2: 76,697,817 (GRCm39) D73Y probably damaging Het
Other mutations in Dbt
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20