Incidental Mutation 'IGL02537:Bckdhb'
ID 297565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bckdhb
Ensembl Gene ENSMUSG00000032263
Gene Name branched chain ketoacid dehydrogenase E1, beta polypeptide
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02537
Quality Score
Status
Chromosome 9
Chromosomal Location 83807198-84006293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83871194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 158 (I158V)
Ref Sequence ENSEMBL: ENSMUSP00000139684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034801] [ENSMUST00000190166] [ENSMUST00000190637]
AlphaFold Q6P3A8
Predicted Effect probably benign
Transcript: ENSMUST00000034801
AA Change: I90V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034801
Gene: ENSMUSG00000032263
AA Change: I90V

DomainStartEndE-ValueType
Transket_pyr 1 176 4.92e-60 SMART
Pfam:Transketolase_C 191 312 1.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190166
AA Change: I90V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000140598
Gene: ENSMUSG00000032263
AA Change: I90V

DomainStartEndE-ValueType
Transket_pyr 1 176 4.92e-60 SMART
Pfam:Transketolase_C 191 309 3.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190637
AA Change: I158V

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139684
Gene: ENSMUSG00000032263
AA Change: I158V

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Transket_pyr 69 244 4.92e-60 SMART
Pfam:Transketolase_C 259 377 1.1e-37 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta chain of the branched chain alpha ketoacid dehydrogenase (Bckdh) complex. The encoded protein exists in a heterotetrameric complex containing the Bckdh alpha subunit to form the E1 catalytic component of Bckdh complex. The Bckdh complex catalyzes the oxidative decarboxylation of branched chain ketoacids to their corresponding acyl-CoA esters, during the catabolism of leucine, isoleucine and valine. In humans, certain mutations in this gene cause maple syrup urine disease. Alternative splicing results in multiple transcript variants encoding different isoforms. A pseudogene for this gene has been identified. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Alx3 T A 3: 107,512,175 (GRCm39) M271K possibly damaging Het
Ank2 T C 3: 126,749,565 (GRCm39) E488G probably damaging Het
Arsk T A 13: 76,223,025 (GRCm39) R191* probably null Het
B230217C12Rik T C 11: 97,733,011 (GRCm39) S111P possibly damaging Het
Bub1 G A 2: 127,643,267 (GRCm39) Q1026* probably null Het
C8a A G 4: 104,703,148 (GRCm39) M303T probably damaging Het
Cftr A G 6: 18,274,596 (GRCm39) T905A probably benign Het
Ciao3 C T 17: 25,997,916 (GRCm39) probably benign Het
Col14a1 A T 15: 55,208,310 (GRCm39) K132* probably null Het
Depdc5 T A 5: 33,125,131 (GRCm39) L531Q probably damaging Het
Dzip1 G A 14: 119,146,988 (GRCm39) probably benign Het
F5 C A 1: 164,020,686 (GRCm39) L1054I probably benign Het
Gm4353 A T 7: 115,682,987 (GRCm39) I198N probably damaging Het
Il1a T A 2: 129,150,996 (GRCm39) E9V probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kndc1 T C 7: 139,490,326 (GRCm39) V276A probably benign Het
Or2aj5 A T 16: 19,424,549 (GRCm39) Y290N probably damaging Het
Or4a74 A C 2: 89,439,739 (GRCm39) S236A possibly damaging Het
Or6n2 A T 1: 173,897,020 (GRCm39) D52V possibly damaging Het
Palld T C 8: 62,137,968 (GRCm39) S596G probably benign Het
Pdc A T 1: 150,208,760 (GRCm39) D81V possibly damaging Het
Plcd4 A G 1: 74,595,209 (GRCm39) K361R possibly damaging Het
Plekhm1 T A 11: 103,288,018 (GRCm39) D43V probably damaging Het
Prpf31 G T 7: 3,641,750 (GRCm39) G356C probably damaging Het
Rbpj T A 5: 53,799,485 (GRCm39) I100K probably damaging Het
Rufy3 A G 5: 88,788,521 (GRCm39) probably benign Het
Slc40a1 C T 1: 45,950,553 (GRCm39) V300I probably benign Het
Slc6a12 A T 6: 121,337,473 (GRCm39) I386F probably benign Het
Strip1 C T 3: 107,524,210 (GRCm39) R569H possibly damaging Het
Tep1 A T 14: 51,073,570 (GRCm39) D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 (GRCm39) S14P possibly damaging Het
Trav12-1 C A 14: 53,775,980 (GRCm39) C44* probably null Het
Uba1 G A X: 20,544,902 (GRCm39) R693H possibly damaging Het
Ugt2b38 T C 5: 87,569,590 (GRCm39) T246A possibly damaging Het
Usp24 A G 4: 106,249,564 (GRCm39) Y1427C probably damaging Het
Vmn2r78 A T 7: 86,603,496 (GRCm39) Y558F probably damaging Het
Wdr54 A G 6: 83,130,372 (GRCm39) W221R possibly damaging Het
Xpo4 T C 14: 57,831,290 (GRCm39) T773A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp518a T A 19: 40,903,874 (GRCm39) S1268T probably benign Het
Znfx1 T C 2: 166,898,087 (GRCm39) D279G probably benign Het
Other mutations in Bckdhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Bckdhb APN 9 83,873,789 (GRCm39) missense probably benign
IGL02808:Bckdhb APN 9 83,870,898 (GRCm39) missense probably benign 0.05
R0608:Bckdhb UTSW 9 83,835,789 (GRCm39) missense probably damaging 1.00
R1780:Bckdhb UTSW 9 83,835,836 (GRCm39) critical splice donor site probably null
R3892:Bckdhb UTSW 9 83,870,863 (GRCm39) missense probably damaging 1.00
R4825:Bckdhb UTSW 9 83,870,958 (GRCm39) missense probably damaging 1.00
R6018:Bckdhb UTSW 9 83,951,237 (GRCm39) missense probably benign 0.41
R6823:Bckdhb UTSW 9 83,835,814 (GRCm39) missense possibly damaging 0.76
R7350:Bckdhb UTSW 9 83,892,379 (GRCm39) missense possibly damaging 0.93
R7383:Bckdhb UTSW 9 83,835,766 (GRCm39) missense possibly damaging 0.66
R7759:Bckdhb UTSW 9 83,892,379 (GRCm39) missense probably damaging 0.96
R8269:Bckdhb UTSW 9 84,004,417 (GRCm39) missense probably benign 0.01
R8465:Bckdhb UTSW 9 83,870,915 (GRCm39) missense probably benign 0.27
R9144:Bckdhb UTSW 9 83,894,662 (GRCm39) missense probably damaging 0.99
R9312:Bckdhb UTSW 9 83,870,833 (GRCm39) missense probably benign 0.00
R9607:Bckdhb UTSW 9 83,871,344 (GRCm39) missense probably benign 0.07
Posted On 2015-04-16