Incidental Mutation 'R4367:Bckdk'
ID 325808
Institutional Source Beutler Lab
Gene Symbol Bckdk
Ensembl Gene ENSMUSG00000030802
Gene Name branched chain ketoacid dehydrogenase kinase
Synonyms BCKD-kinase
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127503245-127508836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127505591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 238 (A238V)
Ref Sequence ENSEMBL: ENSMUSP00000146115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071056] [ENSMUST00000124533] [ENSMUST00000151451] [ENSMUST00000206140] [ENSMUST00000206745]
AlphaFold O55028
Predicted Effect probably benign
Transcript: ENSMUST00000071056
AA Change: A238V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000070345
Gene: ENSMUSG00000030802
AA Change: A238V

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 benign
Transcript: ENSMUST00000124533
AA Change: A238V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146574
Predicted Effect probably benign
Transcript: ENSMUST00000151451
SMART Domains Protein: ENSMUSP00000116990
Gene: ENSMUSG00000030802

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 benign
Transcript: ENSMUST00000206140
Predicted Effect probably benign
Transcript: ENSMUST00000206745
AA Change: A238V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Meta Mutation Damage Score 0.1101 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign 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
R3750: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
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'- CCCTTAGGGCTGAGGATGGG -3'
(R):5'- CCCTCCACTAGTTTAAGATGTCAG -3'

Sequencing Primer
(F):5'- CTGAGGATGGGCTTGGGGC -3'
(R):5'- AAGAGCACTTGCCCTTCCTTATAGAG -3'
Posted On 2015-07-06