Incidental Mutation 'IGL01475:Dbt'
ID88416
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 #IGL01475
Quality Score
Status
Chromosome3
Chromosomal Location116513070-116549981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 116520259 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 25 (T25I)
Ref Sequence ENSEMBL: ENSMUSP00000143713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000349] [ENSMUST00000197201] [ENSMUST00000199614]
Predicted Effect probably benign
Transcript: ENSMUST00000000349
AA Change: T25I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: T25I

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 possibly damaging
Transcript: ENSMUST00000199614
AA Change: T25I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A T 14: 59,142,803 N15K possibly damaging Het
4833427G06Rik A G 9: 51,100,058 I93T probably benign Het
Adam32 A T 8: 24,872,648 I587K probably damaging Het
Adamtsl4 T C 3: 95,677,533 S942G probably benign Het
Adamtsl5 A G 10: 80,344,916 F104S probably damaging Het
Adgrf5 A G 17: 43,450,354 D980G probably benign Het
Apba1 A T 19: 23,917,586 D462V possibly damaging Het
Arhgef11 T C 3: 87,727,126 probably benign Het
Cd74 T C 18: 60,810,321 probably benign Het
Cdc16 T C 8: 13,781,542 S592P probably benign Het
Cenpj A G 14: 56,565,045 M21T possibly damaging Het
Col28a1 A G 6: 8,103,521 L425S probably damaging Het
Dguok C A 6: 83,490,570 M98I possibly damaging Het
Dmxl1 T C 18: 49,871,714 L943P probably damaging Het
Eloa G A 4: 136,010,920 S243L probably benign Het
Enkur C A 2: 21,196,719 A52S probably damaging Het
Ezh1 T C 11: 101,192,961 E744G probably damaging Het
Fbxw11 T C 11: 32,722,101 S190P possibly damaging Het
Foxb1 G A 9: 69,759,268 probably benign Het
Gabra5 C T 7: 57,408,684 G439S probably damaging Het
Gtf2h2 A T 13: 100,481,033 V207D probably damaging Het
Krt76 A G 15: 101,888,513 V317A probably benign Het
Lair1 C A 7: 4,009,684 probably benign Het
Lrit2 T A 14: 37,069,094 H243Q probably damaging Het
Mast3 C T 8: 70,779,530 A1268T probably damaging Het
Matn2 G A 15: 34,316,525 M4I possibly damaging Het
Mob1b T A 5: 88,749,643 F137I probably damaging Het
Mreg T C 1: 72,164,166 probably benign Het
Nom1 T C 5: 29,446,274 V684A possibly damaging Het
Pate2 T A 9: 35,669,702 L1Q probably null Het
Pla2r1 T C 2: 60,441,081 probably benign Het
Plxna1 A G 6: 89,354,888 F447L possibly damaging Het
Pno1 A T 11: 17,210,992 I114N probably damaging Het
Ppp1r7 T G 1: 93,360,818 probably benign Het
Pprc1 T A 19: 46,071,529 Y1503N probably benign Het
Rab30 T C 7: 92,835,722 V132A probably damaging Het
Slc15a4 T C 5: 127,601,960 T439A probably benign Het
Slc29a3 A G 10: 60,723,817 V186A possibly damaging Het
Stxbp5l G A 16: 37,345,092 T88I possibly damaging Het
Tarbp1 A G 8: 126,433,962 V1250A probably benign Het
Tcte2 A T 17: 13,717,562 probably benign Het
Trp53bp1 A T 2: 121,270,319 probably null Het
Trpc4 A T 3: 54,266,407 L407F possibly damaging Het
Vmn1r6 T C 6: 57,002,911 F164S probably damaging Het
Zfp579 C A 7: 4,994,744 R56L probably benign 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
IGL00839:Dbt APN 3 116546114 missense probably benign 0.21
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
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 On2013-11-18