Incidental Mutation 'R0071:Bckdha'
ID 43846
Institutional Source Beutler Lab
Gene Symbol Bckdha
Ensembl Gene ENSMUSG00000060376
Gene Name branched chain ketoacid dehydrogenase E1, alpha polypeptide
Synonyms BCKAD E1[a]
MMRRC Submission 038362-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R0071 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 25329371-25358178 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 25329868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000076034] [ENSMUST00000077338] [ENSMUST00000085953] [ENSMUST00000205281] [ENSMUST00000205808] [ENSMUST00000206940]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000071329
SMART Domains Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
Pfam:E1_dh 107 407 2.9e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076034
SMART Domains Protein: ENSMUSP00000092277
Gene: ENSMUSG00000059479

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:Galactosyl_T 154 344 2.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077338
SMART Domains Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 82 213 2e-10 PDB
SCOP:d1fqva2 109 209 2e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085953
SMART Domains Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 81 212 3e-10 PDB
SCOP:d1fqva2 108 208 3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205281
Predicted Effect probably null
Transcript: ENSMUST00000205808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206824
Predicted Effect probably benign
Transcript: ENSMUST00000206940
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.2%
Validation Efficiency 99% (78/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 35,812,746 (GRCm39) probably benign Het
Acot12 T C 13: 91,929,293 (GRCm39) probably benign Het
Acrbp T C 6: 125,027,915 (GRCm39) probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Aox3 T A 1: 58,211,050 (GRCm39) C931* probably null Het
Apob T A 12: 8,052,111 (GRCm39) V1184E probably damaging Het
Arhgap44 A T 11: 64,902,721 (GRCm39) L582Q possibly damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Bccip A G 7: 133,315,960 (GRCm39) D72G probably damaging Het
Bmerb1 A G 16: 13,906,818 (GRCm39) D11G probably damaging Het
Cald1 C T 6: 34,735,069 (GRCm39) probably benign Het
Cby2 A G 14: 75,821,621 (GRCm39) S44P probably benign Het
Cdk11b T C 4: 155,733,880 (GRCm39) probably benign Het
Cebpe G T 14: 54,948,061 (GRCm39) R261S probably damaging Het
Cep95 C T 11: 106,681,554 (GRCm39) probably benign Het
Chi3l1 T C 1: 134,113,017 (GRCm39) Y150H probably benign Het
Chrnd T C 1: 87,120,559 (GRCm39) probably benign Het
Clec4g T A 8: 3,767,489 (GRCm39) probably benign Het
Cog2 T C 8: 125,275,407 (GRCm39) probably benign Het
Coro7 A T 16: 4,488,391 (GRCm39) L93Q probably damaging Het
Csmd3 T C 15: 47,460,217 (GRCm39) T3525A probably benign Het
Ctsc G A 7: 87,957,357 (GRCm39) probably benign Het
Dnajc16 T C 4: 141,495,318 (GRCm39) T467A probably benign Het
Dnmt1 G A 9: 20,819,916 (GRCm39) T1409I probably damaging Het
Fam227b T A 2: 125,965,994 (GRCm39) N144Y probably benign Het
Fam83h A G 15: 75,874,377 (GRCm39) S987P probably benign Het
Fhod1 A T 8: 106,063,857 (GRCm39) probably null Het
Folr1 A G 7: 101,513,130 (GRCm39) probably null Het
Glis3 C T 19: 28,241,255 (GRCm39) probably benign Het
Gm10069 T C 6: 128,449,688 (GRCm39) noncoding transcript Het
Golgb1 G A 16: 36,735,865 (GRCm39) R1704Q probably benign Het
Gpr158 C A 2: 21,815,479 (GRCm39) T624K probably benign Het
Helz2 T C 2: 180,878,200 (GRCm39) Y866C probably damaging Het
Itpkb T A 1: 180,160,330 (GRCm39) V152E probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Klhl32 A G 4: 24,743,907 (GRCm39) V88A probably damaging Het
Lct C T 1: 128,219,755 (GRCm39) W1631* probably null Het
Lipa T A 19: 34,472,482 (GRCm39) K313M probably damaging Het
Ly75 T C 2: 60,152,163 (GRCm39) K1130R probably benign Het
Mamdc2 C A 19: 23,280,994 (GRCm39) E685* probably null Het
Mdm1 A G 10: 117,982,701 (GRCm39) E112G probably damaging Het
Metrnl A T 11: 121,606,826 (GRCm39) M212L probably benign Het
Mettl2 A G 11: 105,022,468 (GRCm39) probably benign Het
Mxd3 A T 13: 55,477,449 (GRCm39) L11Q probably damaging Het
Myo7a A T 7: 97,706,037 (GRCm39) Y1836N probably damaging Het
Nsun7 A G 5: 66,421,388 (GRCm39) Y118C probably benign Het
Obscn G A 11: 58,955,027 (GRCm39) T3962M possibly damaging Het
Or13a20 A T 7: 140,232,170 (GRCm39) I93F probably benign Het
Or2d36 A G 7: 106,746,919 (GRCm39) Y132C probably damaging Het
Or5k3 C A 16: 58,969,578 (GRCm39) R122S probably benign Het
Osbpl11 T C 16: 33,034,708 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,131 (GRCm39) D276V probably damaging Het
Pik3cb A T 9: 98,926,918 (GRCm39) D886E probably benign Het
Pkhd1 T A 1: 20,271,568 (GRCm39) Y2995F probably benign Het
Raver2 C T 4: 100,977,642 (GRCm39) probably benign Het
Rhbdf1 A G 11: 32,160,498 (GRCm39) L684P probably damaging Het
Rufy2 C A 10: 62,824,946 (GRCm39) L75M possibly damaging Het
Sec22c A G 9: 121,521,979 (GRCm39) F44L probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpina1a T C 12: 103,822,002 (GRCm39) K310R probably benign Het
Shoc1 A G 4: 59,059,643 (GRCm39) Y1006H possibly damaging Het
Sobp A G 10: 43,033,993 (GRCm39) L111P probably damaging Het
Sparcl1 G T 5: 104,233,707 (GRCm39) Y547* probably null Het
Spata31d1b G A 13: 59,863,163 (GRCm39) A104T probably benign Het
Spsb3 A G 17: 25,106,878 (GRCm39) D184G probably damaging Het
Sptan1 A T 2: 29,893,354 (GRCm39) K1148* probably null Het
Tdrd12 A G 7: 35,228,671 (GRCm39) V17A possibly damaging Het
Tlr9 A G 9: 106,100,777 (GRCm39) T23A probably benign Het
Tra2b A T 16: 22,073,151 (GRCm39) probably benign Het
Tspan15 A G 10: 62,038,849 (GRCm39) probably benign Het
Ttc41 A G 10: 86,572,710 (GRCm39) N694S probably benign Het
Ttn T G 2: 76,597,813 (GRCm39) D19700A probably damaging Het
Ube3b G A 5: 114,557,558 (GRCm39) G1014D probably damaging Het
Unc5d A G 8: 29,209,854 (GRCm39) V422A possibly damaging Het
Vmn2r80 C T 10: 79,007,566 (GRCm39) T514I possibly damaging Het
Zfp595 T C 13: 67,464,917 (GRCm39) K452E possibly damaging Het
Zfp607a A G 7: 27,577,694 (GRCm39) K255E probably damaging Het
Zxdc T G 6: 90,347,398 (GRCm39) V253G probably damaging Het
Other mutations in Bckdha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Bckdha APN 7 25,332,767 (GRCm39) missense probably benign 0.00
IGL01322:Bckdha APN 7 25,358,132 (GRCm39) missense possibly damaging 0.75
IGL02279:Bckdha APN 7 25,330,534 (GRCm39) missense probably damaging 1.00
R0071:Bckdha UTSW 7 25,329,868 (GRCm39) splice site probably null
R0194:Bckdha UTSW 7 25,330,875 (GRCm39) missense probably damaging 1.00
R0615:Bckdha UTSW 7 25,341,210 (GRCm39) missense probably benign 0.00
R1806:Bckdha UTSW 7 25,330,845 (GRCm39) missense probably damaging 1.00
R2520:Bckdha UTSW 7 25,341,124 (GRCm39) missense probably benign 0.18
R3847:Bckdha UTSW 7 25,331,077 (GRCm39) missense probably damaging 1.00
R3975:Bckdha UTSW 7 25,330,858 (GRCm39) missense probably damaging 1.00
R4630:Bckdha UTSW 7 25,330,884 (GRCm39) missense probably damaging 1.00
R5655:Bckdha UTSW 7 25,329,789 (GRCm39) missense probably damaging 1.00
R6030:Bckdha UTSW 7 25,330,866 (GRCm39) missense probably damaging 1.00
R6030:Bckdha UTSW 7 25,330,866 (GRCm39) missense probably damaging 1.00
R7961:Bckdha UTSW 7 25,330,903 (GRCm39) missense probably damaging 1.00
R8202:Bckdha UTSW 7 25,329,738 (GRCm39) missense probably damaging 1.00
R8344:Bckdha UTSW 7 25,330,872 (GRCm39) missense probably damaging 1.00
R8932:Bckdha UTSW 7 25,330,436 (GRCm39) missense probably damaging 0.99
R9089:Bckdha UTSW 7 25,341,144 (GRCm39) missense probably benign 0.03
R9782:Bckdha UTSW 7 25,340,880 (GRCm39) critical splice donor site probably null
Z1176:Bckdha UTSW 7 25,330,568 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACATGGTGCCCCAGTGAAGTAG -3'
(R):5'- TTGCAGAGCTGAGCTGACAGTG -3'

Sequencing Primer
(F):5'- TAGGGCCTCACTTGTCAAAG -3'
(R):5'- CTGAGCTGACAGTGCAGGG -3'
Posted On 2013-05-29