Incidental Mutation 'IGL02279:Bckdha'
ID289784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bckdha
Ensembl Gene ENSMUSG00000060376
Gene Namebranched chain ketoacid dehydrogenase E1, alpha polypeptide
SynonymsBCKAD E1[a]
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL02279
Quality Score
Status
Chromosome7
Chromosomal Location25629946-25658981 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25631109 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 354 (Y354C)
Ref Sequence ENSEMBL: ENSMUSP00000071292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000076034] [ENSMUST00000205281] [ENSMUST00000205808] [ENSMUST00000206940]
Predicted Effect probably damaging
Transcript: ENSMUST00000071329
AA Change: Y354C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376
AA Change: Y354C

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: ENSMUST00000205281
Predicted Effect probably benign
Transcript: ENSMUST00000205808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206824
Predicted Effect probably benign
Transcript: ENSMUST00000206940
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 (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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 123,954,361 S699G probably benign Het
Ak2 C T 4: 128,999,237 A63V probably benign Het
Dgcr14 T C 16: 17,902,911 E357G possibly damaging Het
Fmod T A 1: 134,040,497 C92S probably damaging Het
Gdpd1 T C 11: 87,073,901 Y26C probably benign Het
Gpr45 T C 1: 43,032,838 S214P probably damaging Het
Lmod3 A G 6: 97,247,672 V396A probably damaging Het
Lpcat3 A G 6: 124,698,109 Y64C probably damaging Het
Nrd1 T A 4: 109,024,194 probably benign Het
Olfr152 C T 2: 87,783,232 R231C probably damaging Het
Olfr430 T A 1: 174,069,391 L31Q probably null Het
Olfr894 T C 9: 38,219,093 V90A probably benign Het
Pcnt T C 10: 76,403,765 D1296G probably damaging Het
Pitpnm1 T A 19: 4,101,207 I8N probably damaging Het
Sel1l T C 12: 91,814,997 N538S probably damaging Het
Srrm2 T G 17: 23,815,332 probably benign Het
Svs3b G T 2: 164,256,204 Q66K possibly damaging Het
Ttn T A 2: 76,810,290 K11959* probably null Het
Other mutations in Bckdha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Bckdha APN 7 25633342 missense probably benign 0.00
IGL01322:Bckdha APN 7 25658707 missense possibly damaging 0.75
R0071:Bckdha UTSW 7 25630443 splice site probably null
R0071:Bckdha UTSW 7 25630443 splice site probably null
R0194:Bckdha UTSW 7 25631450 missense probably damaging 1.00
R0615:Bckdha UTSW 7 25641785 missense probably benign 0.00
R1806:Bckdha UTSW 7 25631420 missense probably damaging 1.00
R2520:Bckdha UTSW 7 25641699 missense probably benign 0.18
R3847:Bckdha UTSW 7 25631652 missense probably damaging 1.00
R3975:Bckdha UTSW 7 25631433 missense probably damaging 1.00
R4630:Bckdha UTSW 7 25631459 missense probably damaging 1.00
R5655:Bckdha UTSW 7 25630364 missense probably damaging 1.00
R6030:Bckdha UTSW 7 25631441 missense probably damaging 1.00
R6030:Bckdha UTSW 7 25631441 missense probably damaging 1.00
R7961:Bckdha UTSW 7 25631478 missense probably damaging 1.00
R8202:Bckdha UTSW 7 25630313 missense probably damaging 1.00
R8344:Bckdha UTSW 7 25631447 missense probably damaging 1.00
Z1176:Bckdha UTSW 7 25631143 missense probably damaging 1.00
Posted On2015-04-16