Incidental Mutation 'R3847:Bckdha'
ID 277431
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 040895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R3847 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 25629946-25658981 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25631652 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 281 (R281H)
Ref Sequence ENSEMBL: ENSMUSP00000071292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000076034] [ENSMUST00000205281] [ENSMUST00000205808] [ENSMUST00000206940]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071329
AA Change: R281H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376
AA Change: R281H

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

low complexity region 8 19 N/A INTRINSIC
Pfam:Galactosyl_T 154 344 2.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205281
Predicted Effect probably benign
Transcript: ENSMUST00000205808
AA Change: R31H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206824
Predicted Effect probably benign
Transcript: ENSMUST00000206940
Meta Mutation Damage Score 0.3063 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (66/66)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,736,324 (GRCm38) probably null Het
Abcc12 C T 8: 86,553,391 (GRCm38) E338K probably benign Het
Abcc5 A T 16: 20,372,156 (GRCm38) S815T probably benign Het
Ankrd16 G A 2: 11,789,808 (GRCm38) E335K probably benign Het
Atm A G 9: 53,503,075 (GRCm38) F905S possibly damaging Het
Blvra C T 2: 127,095,191 (GRCm38) T188I probably damaging Het
Bmp8b C A 4: 123,116,168 (GRCm38) probably benign Het
Cacna2d3 A G 14: 29,347,120 (GRCm38) probably null Het
Cacng8 T C 7: 3,394,474 (GRCm38) S84P probably damaging Het
Cad T A 5: 31,061,650 (GRCm38) V605E probably damaging Het
Ccny A G 18: 9,449,641 (GRCm38) S11P probably benign Het
Col3a1 C A 1: 45,321,990 (GRCm38) P112T unknown Het
Corin T C 5: 72,422,165 (GRCm38) E155G probably benign Het
Cul9 T C 17: 46,525,135 (GRCm38) Y1195C probably damaging Het
Cyp27a1 A G 1: 74,737,559 (GRCm38) E501G probably damaging Het
Dennd3 T A 15: 73,542,732 (GRCm38) N457K possibly damaging Het
Dnah7a T G 1: 53,501,656 (GRCm38) I2520L probably benign Het
Dst C T 1: 34,212,319 (GRCm38) S4165F probably damaging Het
Fgf14 A C 14: 123,980,389 (GRCm38) I234R probably benign Het
Foxp4 A G 17: 47,875,528 (GRCm38) I442T unknown Het
Gad2 T G 2: 22,684,988 (GRCm38) D472E probably benign Het
Garnl3 G T 2: 32,992,228 (GRCm38) H832N probably benign Het
Gm13941 T C 2: 111,104,853 (GRCm38) M11V unknown Het
Gnptab T A 10: 88,433,577 (GRCm38) L714* probably null Het
Golgb1 C A 16: 36,898,733 (GRCm38) Q334K probably benign Het
Gp9 A G 6: 87,779,151 (GRCm38) I49M probably benign Het
Guf1 A G 5: 69,561,157 (GRCm38) N213S probably damaging Het
H2-K1 T G 17: 33,997,329 (GRCm38) H281P probably damaging Het
Hhip T A 8: 79,997,495 (GRCm38) M373L probably benign Het
Ifi203 C T 1: 173,933,796 (GRCm38) C229Y possibly damaging Het
Ighv13-2 A G 12: 114,357,798 (GRCm38) L88S probably damaging Het
Kcna3 T C 3: 107,036,696 (GRCm38) Y92H possibly damaging Het
Lmo7 A G 14: 101,922,095 (GRCm38) probably null Het
Lrguk A G 6: 34,073,768 (GRCm38) D387G probably damaging Het
Mki67 A C 7: 135,696,130 (GRCm38) S2392A probably benign Het
Mknk2 C T 10: 80,667,975 (GRCm38) W367* probably null Het
Mocos A G 18: 24,676,662 (GRCm38) K441E probably damaging Het
Mpnd T C 17: 56,011,692 (GRCm38) S150P probably damaging Het
Naip2 A T 13: 100,179,432 (GRCm38) L280Q probably damaging Het
Naip2 G C 13: 100,179,433 (GRCm38) L280V probably damaging Het
Neurod4 C T 10: 130,270,482 (GRCm38) V308I probably benign Het
Nxf3 C T X: 136,073,983 (GRCm38) V474I probably benign Het
Or10d5j A T 9: 39,956,581 (GRCm38) M118K probably damaging Het
Or8u10 A T 2: 86,085,407 (GRCm38) Y123* probably null Het
Pam T A 1: 97,854,756 (GRCm38) probably benign Het
Pde5a T C 3: 122,803,160 (GRCm38) Y467H probably damaging Het
Pibf1 T A 14: 99,137,121 (GRCm38) V332E possibly damaging Het
Plxna1 C A 6: 89,356,519 (GRCm38) R376L probably damaging Het
Proz A G 8: 13,073,533 (GRCm38) E268G probably benign Het
Rimbp3 A T 16: 17,210,299 (GRCm38) H529L probably benign Het
Rnf103 C G 6: 71,508,875 (GRCm38) C163W probably damaging Het
Rnf17 T C 14: 56,512,296 (GRCm38) V1433A probably damaging Het
Septin11 G T 5: 93,162,167 (GRCm38) M276I probably damaging Het
Slc30a4 A G 2: 122,702,272 (GRCm38) V50A probably damaging Het
Sorbs1 A G 19: 40,314,443 (GRCm38) V570A probably damaging Het
Spout1 T C 2: 30,177,407 (GRCm38) probably null Het
Syne2 T C 12: 76,048,622 (GRCm38) L5241P probably damaging Het
Tas2r110 T A 6: 132,868,675 (GRCm38) I223N probably damaging Het
Tead2 T A 7: 45,232,328 (GRCm38) probably null Het
Thsd1 A G 8: 22,259,411 (GRCm38) H713R probably damaging Het
Ttc21b A G 2: 66,242,679 (GRCm38) L221S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Vmn2r105 A G 17: 20,208,690 (GRCm38) I708T possibly damaging Het
Vmn2r117 G T 17: 23,460,415 (GRCm38) H612N probably damaging Het
Wnk1 C T 6: 119,969,354 (GRCm38) G613S possibly damaging Het
Zbtb41 T A 1: 139,423,996 (GRCm38) H282Q probably benign Het
Zfp335 C A 2: 164,900,106 (GRCm38) probably null Het
Zmym2 T A 14: 56,921,499 (GRCm38) probably benign Het
Other mutations in Bckdha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Bckdha APN 7 25,633,342 (GRCm38) missense probably benign 0.00
IGL01322:Bckdha APN 7 25,658,707 (GRCm38) missense possibly damaging 0.75
IGL02279:Bckdha APN 7 25,631,109 (GRCm38) missense probably damaging 1.00
R0071:Bckdha UTSW 7 25,630,443 (GRCm38) splice site probably null
R0071:Bckdha UTSW 7 25,630,443 (GRCm38) splice site probably null
R0194:Bckdha UTSW 7 25,631,450 (GRCm38) missense probably damaging 1.00
R0615:Bckdha UTSW 7 25,641,785 (GRCm38) missense probably benign 0.00
R1806:Bckdha UTSW 7 25,631,420 (GRCm38) missense probably damaging 1.00
R2520:Bckdha UTSW 7 25,641,699 (GRCm38) missense probably benign 0.18
R3975:Bckdha UTSW 7 25,631,433 (GRCm38) missense probably damaging 1.00
R4630:Bckdha UTSW 7 25,631,459 (GRCm38) missense probably damaging 1.00
R5655:Bckdha UTSW 7 25,630,364 (GRCm38) missense probably damaging 1.00
R6030:Bckdha UTSW 7 25,631,441 (GRCm38) missense probably damaging 1.00
R6030:Bckdha UTSW 7 25,631,441 (GRCm38) missense probably damaging 1.00
R7961:Bckdha UTSW 7 25,631,478 (GRCm38) missense probably damaging 1.00
R8202:Bckdha UTSW 7 25,630,313 (GRCm38) missense probably damaging 1.00
R8344:Bckdha UTSW 7 25,631,447 (GRCm38) missense probably damaging 1.00
R8932:Bckdha UTSW 7 25,631,011 (GRCm38) missense probably damaging 0.99
R9089:Bckdha UTSW 7 25,641,719 (GRCm38) missense probably benign 0.03
R9782:Bckdha UTSW 7 25,641,455 (GRCm38) critical splice donor site probably null
Z1176:Bckdha UTSW 7 25,631,143 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-06