Incidental Mutation 'R3750:Bckdk'
ID 310144
Institutional Source Beutler Lab
Gene Symbol Bckdk
Ensembl Gene ENSMUSG00000030802
Gene Name branched chain ketoacid dehydrogenase kinase
Synonyms BCKD-kinase
MMRRC Submission 040735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R3750 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127503245-127508836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127504590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 105 (R105S)
Ref Sequence ENSEMBL: ENSMUSP00000146303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071056] [ENSMUST00000124533] [ENSMUST00000151451] [ENSMUST00000206140] [ENSMUST00000206745]
AlphaFold O55028
Predicted Effect probably damaging
Transcript: ENSMUST00000071056
AA Change: R105S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070345
Gene: ENSMUSG00000030802
AA Change: R105S

DomainStartEndE-ValueType
low complexity region 7 35 N/A INTRINSIC
Pfam:BCDHK_Adom3 69 222 1.8e-44 PFAM
HATPase_c 264 404 2.06e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124533
AA Change: R105S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146574
Predicted Effect probably damaging
Transcript: ENSMUST00000151451
AA Change: R105S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116990
Gene: ENSMUSG00000030802
AA Change: R105S

DomainStartEndE-ValueType
low complexity region 7 35 N/A INTRINSIC
Pfam:BCDHK_Adom3 68 214 1.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206068
Predicted Effect probably damaging
Transcript: ENSMUST00000206140
AA Change: R105S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206745
AA Change: R105S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9536 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Nullizygous mutations lead to altered amino acid metabolism, gait anomalies and neurobehavioral phenotypes. Homozygotes for a gene trapped allele show impaired growth, reduced fertility and epileptic seizures. Homozygotes for another gene trapped allele show motor delay and autism-like behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Adam12 T C 7: 133,774,594 (GRCm39) D5G probably damaging Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Ago1 A G 4: 126,354,837 (GRCm39) I125T probably benign Het
Bub1b T A 2: 118,445,936 (GRCm39) N319K possibly damaging Het
Clcn6 G T 4: 148,108,644 (GRCm39) C128* probably null Het
Col6a4 C A 9: 105,897,864 (GRCm39) probably null Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Dlg5 G A 14: 24,215,328 (GRCm39) A665V probably damaging Het
Foxd1 G C 13: 98,492,424 (GRCm39) A433P unknown Het
Hsd17b3 A T 13: 64,210,993 (GRCm39) probably null Het
Kcnc4 A G 3: 107,355,506 (GRCm39) V314A probably benign Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Marcks G A 10: 37,016,866 (GRCm39) probably benign Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nefh A G 11: 4,889,937 (GRCm39) V894A probably benign Het
Pdzph1 A T 17: 59,280,331 (GRCm39) Y650* probably null Het
Plce1 A C 19: 38,766,343 (GRCm39) I2109L probably benign Het
Pramel18 T A 4: 101,767,073 (GRCm39) D107E possibly damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Relch C T 1: 105,681,302 (GRCm39) T1178I probably damaging Het
Rtca A T 3: 116,286,650 (GRCm39) F327L probably benign Het
Scn2a T G 2: 65,544,115 (GRCm39) V832G probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Skil A G 3: 31,170,983 (GRCm39) N354S probably benign Het
Slk T G 19: 47,608,248 (GRCm39) D400E possibly damaging Het
Spata31 G T 13: 65,069,557 (GRCm39) L568F probably benign Het
Spon1 T C 7: 113,365,621 (GRCm39) L19P probably damaging Het
Spon1 T A 7: 113,616,024 (GRCm39) V297E possibly damaging Het
Tas2r136 A T 6: 132,754,200 (GRCm39) F309Y probably damaging Het
Tcp11l1 A G 2: 104,528,887 (GRCm39) I137T probably damaging Het
Ttn G A 2: 76,584,350 (GRCm39) H22253Y probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Usp1 C T 4: 98,822,357 (GRCm39) probably null Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly damaging Het
Other mutations in Bckdk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Bckdk APN 7 127,504,948 (GRCm39) missense possibly damaging 0.67
IGL02176:Bckdk APN 7 127,505,545 (GRCm39) missense probably benign 0.31
IGL02444:Bckdk APN 7 127,506,618 (GRCm39) missense probably damaging 1.00
daft UTSW 7 127,507,182 (GRCm39) missense probably benign 0.04
dottie UTSW 7 127,505,572 (GRCm39) nonsense probably null
morse UTSW 7 127,506,658 (GRCm39) missense probably null 0.94
Squished UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R2105:Bckdk UTSW 7 127,506,489 (GRCm39) missense probably damaging 1.00
R2240:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R2252:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R2474:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R3696:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R3697:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R3747:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R3749:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R3981:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R4091:Bckdk UTSW 7 127,504,590 (GRCm39) missense probably damaging 1.00
R4303:Bckdk UTSW 7 127,504,502 (GRCm39) intron probably benign
R4367:Bckdk UTSW 7 127,505,591 (GRCm39) missense probably benign 0.07
R4369:Bckdk UTSW 7 127,505,591 (GRCm39) missense probably benign 0.07
R4371:Bckdk UTSW 7 127,505,591 (GRCm39) missense probably benign 0.07
R4841:Bckdk UTSW 7 127,504,633 (GRCm39) splice site probably null
R5615:Bckdk UTSW 7 127,506,489 (GRCm39) missense probably damaging 1.00
R5930:Bckdk UTSW 7 127,505,145 (GRCm39) missense probably damaging 1.00
R7215:Bckdk UTSW 7 127,504,282 (GRCm39) missense possibly damaging 0.82
R7490:Bckdk UTSW 7 127,504,145 (GRCm39) missense unknown
R7596:Bckdk UTSW 7 127,505,572 (GRCm39) nonsense probably null
R7772:Bckdk UTSW 7 127,505,073 (GRCm39) missense probably damaging 1.00
R7973:Bckdk UTSW 7 127,505,539 (GRCm39) missense probably benign 0.21
R8395:Bckdk UTSW 7 127,507,139 (GRCm39) missense probably benign 0.08
R8396:Bckdk UTSW 7 127,504,931 (GRCm39) missense probably damaging 1.00
R8930:Bckdk UTSW 7 127,507,182 (GRCm39) missense probably benign 0.04
R8932:Bckdk UTSW 7 127,507,182 (GRCm39) missense probably benign 0.04
R9102:Bckdk UTSW 7 127,506,658 (GRCm39) missense probably null 0.94
R9361:Bckdk UTSW 7 127,506,515 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TATCTGGTGCTCAAAGTGCGTC -3'
(R):5'- TGAGGCTTAGTCCCATCCAG -3'

Sequencing Primer
(F):5'- GTGCTCAAAGTGCGTCTTCCC -3'
(R):5'- GACCTGATACCTTTCAGCAGG -3'
Posted On 2015-04-17