Incidental Mutation 'RF008:Dbt'
ID 602971
Institutional Source Beutler Lab
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 # RF008 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 116306776-116343630 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 116341717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 439 (Y439*)
Ref Sequence ENSEMBL: ENSMUSP00000000349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000349]
AlphaFold P53395
Predicted Effect probably null
Transcript: ENSMUST00000000349
AA Change: Y439*
SMART Domains Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: Y439*

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
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp CCACGACC CCACGACCACGACC 16: 56,447,952 (GRCm39) probably benign Het
Acan T G 7: 78,742,148 (GRCm39) V515G possibly damaging Het
Acap3 TGG TGGACTGCTGCATCCAGG 4: 155,989,555 (GRCm39) probably benign Het
AI837181 G GGCT 19: 5,475,266 (GRCm39) probably benign Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,977 (GRCm39) probably benign Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arid1b GCG GCGACG 17: 5,045,869 (GRCm39) probably benign Het
Arid1b CGG CGGAGG 17: 5,045,870 (GRCm39) probably benign Het
Begain G GCCGCCC 12: 108,999,363 (GRCm39) probably null Het
Cacna1e A G 1: 154,317,882 (GRCm39) M1500T probably damaging Het
Casp16 C A 17: 23,774,201 (GRCm39) probably benign Het
Ccdc174 T C 6: 91,876,347 (GRCm39) S395P possibly damaging Het
Ccdc7a T G 8: 129,691,434 (GRCm39) Q396H probably damaging Het
Ccdc85c CC CCGGC 12: 108,240,887 (GRCm39) probably benign Het
Cemip T C 7: 83,610,843 (GRCm39) T704A probably damaging Het
Cfap68 C T 9: 50,677,067 (GRCm39) R8H probably benign Het
Col7a1 C T 9: 108,793,547 (GRCm39) P1370S unknown Het
Cts8 T C 13: 61,397,102 (GRCm39) I273V probably benign Het
Cyp2c50 T A 19: 40,078,268 (GRCm39) I42N probably damaging Het
Dennd1b T A 1: 138,981,135 (GRCm39) D116E probably damaging Het
Dkk2 T A 3: 131,883,863 (GRCm39) H254Q probably damaging Het
Dpy30 C A 17: 74,622,902 (GRCm39) V27F possibly damaging Het
Efhd2 GCCGCC GCCGCCCCCGCC 4: 141,602,069 (GRCm39) probably benign Het
Eif4g3 A T 4: 137,903,235 (GRCm39) E1020V probably damaging Het
Elmo1 T A 13: 20,458,706 (GRCm39) S156T probably benign Het
Fancd2os T C 6: 113,574,881 (GRCm39) T42A probably damaging Het
Fbrsl1 TGTGC TGTGCGGGTGTGGGTGC 5: 110,525,984 (GRCm39) probably benign Het
Fsip2 T C 2: 82,808,184 (GRCm39) V1501A probably benign Het
Gabrb2 A G 11: 42,517,705 (GRCm39) Y509C probably damaging Het
Gm8369 GTGT GTGTTTGT 19: 11,489,118 (GRCm39) probably null Het
Gpr139 T C 7: 118,744,090 (GRCm39) D165G probably benign Het
Grik2 T C 10: 49,120,480 (GRCm39) E603G probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Ifitm10 T A 7: 141,882,330 (GRCm39) M147L unknown Het
Itpkb C T 1: 180,160,887 (GRCm39) R338W probably damaging Het
Kif1b T A 4: 149,336,195 (GRCm39) probably null Het
Krtap28-10 ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC 1: 83,019,974 (GRCm39) probably benign Het
Krtap28-10 AGCCACCACAGC AGCCACCACAGCCACCGCCACCACAGC 1: 83,020,000 (GRCm39) probably benign Het
Krtap28-10 CAGCCA CAGCCATAGCCA 1: 83,019,849 (GRCm39) probably benign Het
Krtap28-10 AGCCAC AGCCACCGCCAC 1: 83,019,856 (GRCm39) probably benign Het
Las1l AGTGG AGTGGTGG X: 94,984,422 (GRCm39) probably benign Het
Mical2 T C 7: 111,922,833 (GRCm39) Y613H probably damaging Het
Mlf2 C A 6: 124,911,259 (GRCm39) H91Q probably benign Het
Nat9 A T 11: 115,074,212 (GRCm39) I152N probably damaging Het
Or10d4c T C 9: 39,558,559 (GRCm39) M179T probably benign Het
Or4a75 A T 2: 89,447,711 (GRCm39) I275N possibly damaging Het
Pdik1l CACCAC CACCACAACCAC 4: 134,006,822 (GRCm39) probably benign Het
Phldb2 T C 16: 45,583,337 (GRCm39) S1054G probably damaging Het
Pkhd1l1 TTTT TTTTTTTTTTGTTT 15: 44,421,901 (GRCm39) probably benign Het
Plcg2 T A 8: 118,300,263 (GRCm39) probably null Het
Polr1has CACCACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCACCAC 17: 37,275,946 (GRCm39) probably benign Het
Prdm16 T A 4: 154,426,452 (GRCm39) R444S probably damaging Het
Rgs6 T C 12: 83,110,223 (GRCm39) F163L probably damaging Het
Rnaseh2a A T 8: 85,686,687 (GRCm39) L154* probably null Het
Rpp38 A G 2: 3,330,072 (GRCm39) S277P unknown Het
Setd1a GGTAGTGGT GGTAGTGGTTGTAGTGGT 7: 127,384,486 (GRCm39) probably benign Het
Shisa6 CGACAGCAGCAGAG CG 11: 66,416,749 (GRCm39) probably benign Het
Slc27a2 T A 2: 126,395,175 (GRCm39) L34Q possibly damaging Het
Slc7a6 G A 8: 106,922,030 (GRCm39) V386I probably benign Het
Spry1 C T 3: 37,697,264 (GRCm39) T169I possibly damaging Het
Sry TGCTGCTGCTG TGCTGCTGCTGCTG Y: 2,662,826 (GRCm39) probably benign Het
Stk24 A T 14: 121,532,172 (GRCm39) I275N probably benign Het
Strn TC TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC 17: 78,984,716 (GRCm39) probably null Het
Tcp11l2 C A 10: 84,449,388 (GRCm39) P451Q probably damaging Het
Tfeb AGC AGCTGC 17: 48,097,027 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,138 (GRCm39) probably benign Het
V1ra8 A G 6: 90,180,591 (GRCm39) T265A probably benign Het
Zfp106 CTCCTGGCAGT CT 2: 120,355,026 (GRCm39) probably benign Het
Zfp612 C A 8: 110,816,193 (GRCm39) H467N probably damaging Het
Zfp777 A T 6: 48,018,982 (GRCm39) Y317* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGATATGACCTCCCAGGGTTG -3'
(R):5'- TCACACACTCTTTGGAAATGCG -3'

Sequencing Primer
(F):5'- AGCATTGTCAGAAGCCCTG -3'
(R):5'- TGCGAAAAGTTCACAGATGTCC -3'
Posted On 2019-12-04