Incidental Mutation 'IGL03288:Dbt'
ID 415800
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 # IGL03288
Quality Score
Status
Chromosome 3
Chromosomal Location 116306776-116343630 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 116341847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 483 (*483K)
Ref Sequence ENSEMBL: ENSMUSP00000000349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000349]
AlphaFold P53395
Predicted Effect probably null
Transcript: ENSMUST00000000349
AA Change: *483K
SMART Domains Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: *483K

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,761,959 (GRCm39) K1589R probably benign Het
Armc3 T C 2: 19,240,293 (GRCm39) F17L probably damaging Het
Ccdc17 T A 4: 116,456,626 (GRCm39) L465H probably damaging Het
Cdh9 A T 15: 16,856,135 (GRCm39) D725V probably damaging Het
Cert1 T A 13: 96,770,700 (GRCm39) D536E probably benign Het
Chl1 C T 6: 103,652,058 (GRCm39) R309C probably damaging Het
Ddx46 A G 13: 55,785,907 (GRCm39) D29G unknown Het
Des T C 1: 75,338,985 (GRCm39) I222T possibly damaging Het
Dnah8 A G 17: 30,891,323 (GRCm39) N776S probably benign Het
Fbn1 A T 2: 125,145,103 (GRCm39) L2712Q probably benign Het
Glb1l3 A C 9: 26,729,601 (GRCm39) V622G probably damaging Het
Grin2a T C 16: 9,487,704 (GRCm39) D398G possibly damaging Het
Itgb3 T C 11: 104,524,293 (GRCm39) M143T probably damaging Het
Lama2 G A 10: 27,245,047 (GRCm39) R245C probably damaging Het
Lgals9 G A 11: 78,875,626 (GRCm39) A6V probably benign Het
Lman2l A T 1: 36,482,628 (GRCm39) Y83N probably damaging Het
Lrp2 T A 2: 69,256,383 (GRCm39) T4586S probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Myo18b A C 5: 112,937,863 (GRCm39) L1754R probably damaging Het
Myom2 T C 8: 15,172,679 (GRCm39) L1202S probably damaging Het
Nav3 T C 10: 109,594,878 (GRCm39) E1441G probably damaging Het
Nme8 T C 13: 19,880,776 (GRCm39) E60G possibly damaging Het
Npffr2 G T 5: 89,731,020 (GRCm39) A317S probably damaging Het
Nrxn2 A G 19: 6,540,726 (GRCm39) D893G probably damaging Het
Nup153 T C 13: 46,858,681 (GRCm39) E410G possibly damaging Het
Or11h7 T C 14: 50,890,832 (GRCm39) I46T possibly damaging Het
Or7e178 A G 9: 20,247,207 (GRCm39) probably null Het
Pcdhb10 A G 18: 37,546,358 (GRCm39) D478G probably damaging Het
Phf13 T C 4: 152,076,826 (GRCm39) D122G possibly damaging Het
Pkhd1 A T 1: 20,271,243 (GRCm39) H3103Q probably benign Het
Prr11 A C 11: 86,987,787 (GRCm39) probably null Het
Rac3 C T 11: 120,614,092 (GRCm39) T118M possibly damaging Het
Rad54b T C 4: 11,569,833 (GRCm39) S50P possibly damaging Het
Rp1 T C 1: 4,419,747 (GRCm39) Q455R possibly damaging Het
Semp2l1 T A 1: 32,584,841 (GRCm39) E356D probably benign Het
Sorl1 T C 9: 41,944,858 (GRCm39) probably benign Het
Spink5 A T 18: 44,147,827 (GRCm39) I858F possibly damaging Het
Stxbp5 A T 10: 9,742,447 (GRCm39) probably null Het
Svep1 A C 4: 58,116,532 (GRCm39) V906G probably benign Het
Tlr4 A G 4: 66,757,990 (GRCm39) E261G probably damaging Het
Zfp704 C T 3: 9,504,951 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,580,996 (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
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 2016-08-02