Incidental Mutation 'IGL01973:Bckdhb'
ID 182601
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 # IGL01973
Quality Score
Status
Chromosome 9
Chromosomal Location 83807198-84006293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83873789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 217 (F217Y)
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: F149Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034801
Gene: ENSMUSG00000032263
AA Change: F149Y

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: F149Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140598
Gene: ENSMUSG00000032263
AA Change: F149Y

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: F217Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139684
Gene: ENSMUSG00000032263
AA Change: F217Y

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,061,172 (GRCm39) W59R probably damaging Het
Adam17 C T 12: 21,399,944 (GRCm39) R154K probably damaging Het
Ajm1 G T 2: 25,469,584 (GRCm39) S109* probably null Het
Atp9b A T 18: 80,801,518 (GRCm39) F791I probably benign Het
Atr T G 9: 95,753,727 (GRCm39) S776R probably damaging Het
AW554918 A T 18: 25,553,056 (GRCm39) T487S probably damaging Het
Cacna1i G A 15: 80,266,234 (GRCm39) A1574T probably damaging Het
Ccdc150 G A 1: 54,339,647 (GRCm39) probably null Het
Clca4c-ps A T 3: 144,585,593 (GRCm39) noncoding transcript Het
Clec4a1 T C 6: 122,907,680 (GRCm39) S123P probably damaging Het
Col6a4 T C 9: 105,940,093 (GRCm39) Y1279C probably damaging Het
Cox8c T A 12: 102,865,626 (GRCm39) M1K probably null Het
Crat G T 2: 30,295,493 (GRCm39) S370Y probably damaging Het
Cts7 A T 13: 61,503,414 (GRCm39) D183E probably benign Het
Cyp1a2 C A 9: 57,589,678 (GRCm39) W45C probably damaging Het
Eml5 T A 12: 98,829,539 (GRCm39) I492L probably benign Het
Fbxl4 T G 4: 22,422,766 (GRCm39) L456R probably damaging Het
Flt1 G T 5: 147,620,699 (GRCm39) H148Q probably benign Het
Galnt3 T C 2: 65,914,606 (GRCm39) M604V probably benign Het
Gatb T C 3: 85,518,731 (GRCm39) V279A probably damaging Het
Heatr1 C A 13: 12,444,680 (GRCm39) H1543Q probably benign Het
Ighg2b C T 12: 113,271,305 (GRCm39) V83I unknown Het
Jcad A G 18: 4,675,514 (GRCm39) Q1092R probably benign Het
Kirrel3 A G 9: 34,927,764 (GRCm39) E6G probably damaging Het
Klhl22 A G 16: 17,610,575 (GRCm39) S609G probably benign Het
Kntc1 A G 5: 123,904,021 (GRCm39) Y346C probably damaging Het
Maneal T C 4: 124,752,948 (GRCm39) D233G probably benign Het
Mcm3ap T C 10: 76,306,951 (GRCm39) S355P probably benign Het
Mtus2 C T 5: 148,240,286 (GRCm39) probably benign Het
Muc4 A G 16: 32,575,383 (GRCm39) T1380A probably benign Het
Nedd4 T A 9: 72,644,216 (GRCm39) M661K possibly damaging Het
Nomo1 T C 7: 45,732,651 (GRCm39) probably benign Het
Ntmt2 A G 1: 163,544,689 (GRCm39) I98T probably benign Het
Ntsr2 T A 12: 16,706,775 (GRCm39) W268R probably benign Het
Nup188 A C 2: 30,229,862 (GRCm39) Q1360P possibly damaging Het
Or2c1 A T 16: 3,657,641 (GRCm39) Q268L probably damaging Het
Or6k6 A G 1: 173,945,099 (GRCm39) F161S probably damaging Het
Pabpc1 A T 15: 36,599,519 (GRCm39) V392E probably benign Het
Pcdhb11 C A 18: 37,556,565 (GRCm39) R632S probably damaging Het
Phf11 A G 14: 59,488,578 (GRCm39) V73A probably benign Het
Pnpla6 T A 8: 3,567,619 (GRCm39) M87K probably damaging Het
Prkd1 C T 12: 50,413,162 (GRCm39) G670R probably damaging Het
Raf1 G A 6: 115,653,530 (GRCm39) probably benign Het
Rapgef2 T A 3: 78,999,116 (GRCm39) probably null Het
Rnf215 A T 11: 4,086,615 (GRCm39) H164L probably damaging Het
Slc24a3 T C 2: 145,086,947 (GRCm39) V19A probably benign Het
Tbc1d16 A T 11: 119,047,533 (GRCm39) V396E probably benign Het
Tecpr1 T C 5: 144,134,806 (GRCm39) probably benign Het
Thap12 T A 7: 98,365,706 (GRCm39) Y625N possibly damaging Het
Tshz2 A T 2: 169,726,603 (GRCm39) M400L probably damaging Het
Ttc28 A G 5: 111,372,101 (GRCm39) Y850C possibly damaging Het
Ugt1a7c A G 1: 88,022,856 (GRCm39) D5G probably benign Het
Vmn2r10 C T 5: 109,143,543 (GRCm39) M802I probably damaging Het
Washc4 T C 10: 83,391,973 (GRCm39) Y220H probably damaging Het
Zfhx3 T A 8: 109,673,825 (GRCm39) M1625K probably damaging Het
Zfp677 T A 17: 21,617,169 (GRCm39) N75K probably damaging Het
Zzz3 T C 3: 152,134,007 (GRCm39) V355A probably benign Het
Other mutations in Bckdhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02537:Bckdhb APN 9 83,871,194 (GRCm39) missense probably benign 0.07
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 2014-05-07