Incidental Mutation 'IGL00839:Dbt'
ID277999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbt
Ensembl Gene ENSMUSG00000000340
Gene Namedihydrolipoamide branched chain transacylase E2
SynonymsD3Wsu60e, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, dihydrolipoyl transacylase, BCKAD E2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00839
Quality Score
Status
Chromosome3
Chromosomal Location116513070-116549981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 116546114 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 384 (G384S)
Ref Sequence ENSEMBL: ENSMUSP00000000349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000349]
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,660,916 S1031T probably benign Het
a T A 2: 155,045,673 F18I probably benign Het
Acsl4 A T X: 142,339,952 N421K possibly damaging Het
Ampd1 A G 3: 103,099,694 E745G possibly damaging Het
Ankrd44 T C 1: 54,667,435 N436D probably benign Het
Ap1s2 A G X: 163,926,955 Y160C probably damaging Het
Bms1 C T 6: 118,405,291 V429M probably benign Het
Cep57l1 T C 10: 41,731,093 E158G probably damaging Het
Cldn34b4 T A X: 76,397,349 C71S probably damaging Het
Col1a2 C T 6: 4,531,095 probably benign Het
Crisp3 T G 17: 40,239,256 probably null Het
Defa24 T A 8: 21,734,697 L54H probably damaging Het
Dennd1a A G 2: 37,816,982 V504A probably benign Het
Eloa G A 4: 136,011,359 R97C probably damaging Het
Espl1 T C 15: 102,320,547 probably benign Het
Fgb T A 3: 83,043,291 R385S possibly damaging Het
Glod4 T A 11: 76,233,278 H223L probably benign Het
Gm13084 T C 4: 143,812,723 T67A probably benign Het
Hrh1 C T 6: 114,480,322 T188I probably damaging Het
Hsph1 G T 5: 149,618,454 A769D possibly damaging Het
Jak2 C T 19: 29,301,647 P933S probably damaging Het
Lrrd1 T A 5: 3,850,017 D107E probably benign Het
Osbpl8 T A 10: 111,291,510 S776R probably benign Het
Pcna C T 2: 132,251,420 V136I probably benign Het
Pde11a A G 2: 76,215,385 F365S probably damaging Het
Pi15 A G 1: 17,621,523 H183R probably damaging Het
Plce1 A G 19: 38,698,562 Y638C probably damaging Het
Pnpla6 A G 8: 3,542,299 D1196G probably benign Het
Psg22 A G 7: 18,722,968 I220V probably benign Het
Rap1gap2 A T 11: 74,437,448 Y97N probably damaging Het
Taf2 A T 15: 55,045,778 C690* probably null Het
Taf3 A T 2: 9,952,917 D146E probably damaging Het
Tnrc6c A G 11: 117,714,185 T49A possibly damaging Het
Trdn T C 10: 33,471,606 probably null Het
Ttc29 C T 8: 78,333,756 T435I probably benign Het
Vps37b T C 5: 124,010,751 T74A possibly damaging Het
Zbtb11 T A 16: 56,000,602 Y687* probably null Het
Other mutations in Dbt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Dbt APN 3 116539281 missense probably benign
IGL00660:Dbt APN 3 116546295 missense probably damaging 1.00
IGL00840:Dbt APN 3 116546114 missense probably benign 0.21
IGL00841:Dbt APN 3 116546114 missense probably benign 0.21
IGL00852:Dbt APN 3 116546114 missense probably benign 0.21
IGL00861:Dbt APN 3 116546114 missense probably benign 0.21
IGL00955:Dbt APN 3 116546114 missense probably benign 0.21
IGL00956:Dbt APN 3 116546114 missense probably benign 0.21
IGL01475:Dbt APN 3 116520259 missense possibly damaging 0.92
IGL01521:Dbt APN 3 116533383 missense probably benign 0.00
IGL01806:Dbt APN 3 116533305 missense probably damaging 1.00
IGL03288:Dbt APN 3 116548198 makesense probably null
R0025:Dbt UTSW 3 116534783 missense probably benign 0.22
R0066:Dbt UTSW 3 116543829 missense probably benign 0.00
R0066:Dbt UTSW 3 116543829 missense probably benign 0.00
R0190:Dbt UTSW 3 116539087 critical splice acceptor site probably null
R1650:Dbt UTSW 3 116534732 splice site probably null
R1750:Dbt UTSW 3 116546294 missense probably benign 0.18
R2130:Dbt UTSW 3 116539124 missense probably damaging 1.00
R2131:Dbt UTSW 3 116539124 missense probably damaging 1.00
R2133:Dbt UTSW 3 116539124 missense probably damaging 1.00
R2897:Dbt UTSW 3 116523412 missense probably damaging 1.00
R3442:Dbt UTSW 3 116548191 missense probably benign
R4241:Dbt UTSW 3 116533296 missense probably damaging 1.00
R4681:Dbt UTSW 3 116533314 missense probably damaging 1.00
R4724:Dbt UTSW 3 116533296 missense probably damaging 1.00
R4736:Dbt UTSW 3 116539132 missense probably damaging 0.99
R4737:Dbt UTSW 3 116539132 missense probably damaging 0.99
R4738:Dbt UTSW 3 116539132 missense probably damaging 0.99
R4740:Dbt UTSW 3 116539132 missense probably damaging 0.99
R4809:Dbt UTSW 3 116546343 missense probably damaging 1.00
R4823:Dbt UTSW 3 116523387 missense probably damaging 1.00
R4861:Dbt UTSW 3 116548078 missense probably benign 0.00
R4861:Dbt UTSW 3 116548078 missense probably benign 0.00
R5148:Dbt UTSW 3 116528244 intron probably benign
R5327:Dbt UTSW 3 116528571 intron probably benign
R5700:Dbt UTSW 3 116520303 missense probably damaging 0.97
R5931:Dbt UTSW 3 116523425 missense possibly damaging 0.80
R6463:Dbt UTSW 3 116539760 missense possibly damaging 0.51
Posted On2015-04-16