Incidental Mutation 'R7973:Bckdk'
ID 650715
Institutional Source Beutler Lab
Gene Symbol Bckdk
Ensembl Gene ENSMUSG00000030802
Gene Name branched chain ketoacid dehydrogenase kinase
Synonyms BCKD-kinase
MMRRC Submission 046016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R7973 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127503245-127508836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127505539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 221 (I221V)
Ref Sequence ENSEMBL: ENSMUSP00000070345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071056] [ENSMUST00000124533] [ENSMUST00000151451] [ENSMUST00000206140] [ENSMUST00000206745]
AlphaFold O55028
Predicted Effect probably benign
Transcript: ENSMUST00000071056
AA Change: I221V

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070345
Gene: ENSMUSG00000030802
AA Change: I221V

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: I221V

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
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
AA Change: I212V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000206745
AA Change: I221V

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (53/54)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik A G 5: 115,084,112 (GRCm39) D76G probably benign Het
Abcg1 T C 17: 31,323,132 (GRCm39) V237A probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Akap11 A T 14: 78,752,506 (GRCm39) H122Q Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Arhgef4 C T 1: 34,763,518 (GRCm39) R925W possibly damaging Het
Arid1a C T 4: 133,480,381 (GRCm39) G181D probably damaging Het
Ash1l T A 3: 88,960,164 (GRCm39) S2299T probably benign Het
Atf7ip C T 6: 136,538,062 (GRCm39) Q432* probably null Het
B430306N03Rik T A 17: 48,623,483 (GRCm39) S10T probably benign Het
Brinp2 T C 1: 158,074,057 (GRCm39) Y688C probably damaging Het
Caml C T 13: 55,779,784 (GRCm39) L286F probably benign Het
Ccdc125 C T 13: 100,806,331 (GRCm39) probably benign Het
Cdh24 A T 14: 54,876,477 (GRCm39) V116E possibly damaging Het
Cenpe T A 3: 134,929,011 (GRCm39) I305N probably damaging Het
Cep41 C T 6: 30,680,130 (GRCm39) G33S probably damaging Het
Clec4b2 A T 6: 123,181,148 (GRCm39) I178L probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dapk1 T A 13: 60,909,377 (GRCm39) L1330Q probably damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Fmnl1 G T 11: 103,061,984 (GRCm39) probably benign Het
Galk1 A G 11: 115,903,435 (GRCm39) F24L possibly damaging Het
Hyal4 T A 6: 24,755,785 (GRCm39) M1K probably null Het
Ighe T C 12: 113,236,677 (GRCm39) T64A Het
Iqch A G 9: 63,432,228 (GRCm39) I389T possibly damaging Het
Ism2 G T 12: 87,333,769 (GRCm39) T92K possibly damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Kdm1b T C 13: 47,230,922 (GRCm39) S650P probably benign Het
Mapkapk5 T G 5: 121,663,776 (GRCm39) N426T possibly damaging Het
Mroh5 G T 15: 73,664,614 (GRCm39) Y90* probably null Het
Ncan T G 8: 70,550,225 (GRCm39) I1184L probably benign Het
Nectin3 T C 16: 46,216,484 (GRCm39) T439A probably benign Het
Neo1 G T 9: 58,897,476 (GRCm39) A160E probably damaging Het
Nosip T C 7: 44,726,784 (GRCm39) S295P possibly damaging Het
Nup205 T A 6: 35,222,274 (GRCm39) F1979L probably benign Het
Nxpe2 A T 9: 48,231,168 (GRCm39) D400E probably damaging Het
Or4a73 T A 2: 89,421,331 (GRCm39) I43F probably damaging Het
Pfkfb4 G A 9: 108,854,179 (GRCm39) R351Q probably damaging Het
Psg29 T C 7: 16,944,462 (GRCm39) I324T probably benign Het
Ptprh G T 7: 4,583,887 (GRCm39) T235N possibly damaging Het
Ralgapa2 T A 2: 146,230,481 (GRCm39) N981I possibly damaging Het
Ralgps1 T C 2: 33,036,651 (GRCm39) Y421C probably damaging Het
Sf3b3 T C 8: 111,542,922 (GRCm39) E845G possibly damaging Het
Sgk1 G T 10: 21,870,054 (GRCm39) S31I probably benign Het
Sim1 T G 10: 50,857,419 (GRCm39) Y390D probably damaging Het
Slain2 T A 5: 73,112,779 (GRCm39) Y271* probably null Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Stab1 A T 14: 30,881,590 (GRCm39) probably null Het
Supv3l1 A T 10: 62,285,202 (GRCm39) L88Q probably damaging Het
Syt2 C A 1: 134,668,570 (GRCm39) probably null Het
Tpr C T 1: 150,279,638 (GRCm39) R256C probably damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Usp32 A G 11: 84,913,634 (GRCm39) I899T probably damaging Het
Usp6nl G T 2: 6,413,762 (GRCm39) R96M probably damaging Het
Vmn1r75 A G 7: 11,614,961 (GRCm39) D231G probably benign Het
Vmn2r42 T C 7: 8,197,872 (GRCm39) E249G probably benign Het
Zbtb34 C T 2: 33,301,531 (GRCm39) G337R probably benign Het
Zfp457 T A 13: 67,441,882 (GRCm39) H231L probably benign Het
Zfp715 C T 7: 42,949,321 (GRCm39) G213D possibly damaging Het
Zfp760 T G 17: 21,941,084 (GRCm39) H86Q 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
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
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'- TGATCTGAGAATGTTAAATGGGGAAA -3'
(R):5'- CCCTCCACTAGTTTAAGATGTCA -3'

Sequencing Primer
(F):5'- TGTTAAATGGGGAAAGGCACCTG -3'
(R):5'- AAGAGCACTTGCCCTTCCTTATAGAG -3'
Posted On 2020-09-15