Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Bckdk'

680370

Institutional Source

Beutler Lab

Gene Symbol

Bckdk

Ensembl Gene

ENSMUSG00000030802

Gene Name

branched chain ketoacid dehydrogenase kinase

Synonyms

BCKD-kinase

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127503245-127508836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127507182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 312 (D312G)

Ref Sequence

ENSEMBL: ENSMUSP00000145617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033070] [ENSMUST00000071056] [ENSMUST00000124533] [ENSMUST00000151451] [ENSMUST00000206140] [ENSMUST00000206745]

AlphaFold

O55028

Predicted Effect

probably benign
Transcript: ENSMUST00000033070

SMART Domains

Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
CHROMO	69	123	6.6e-8	SMART
Blast:PHD	177	214	4e-6	BLAST
Pfam:MOZ_SAS	235	412	5.7e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071056
AA Change: D342G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000070345
Gene: ENSMUSG00000030802
AA Change: D342G

Domain	Start	End	E-Value	Type
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: D342G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000151451

SMART Domains

Protein: ENSMUSP00000116990
Gene: ENSMUSG00000030802

Domain	Start	End	E-Value	Type
low complexity region	7	35	N/A	INTRINSIC
Pfam:BCDHK_Adom3	68	214	1.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206140

Predicted Effect

probably benign
Transcript: ENSMUST00000206745
AA Change: D312G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,629,693 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,402 (GRCm39)	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Ass1	T	A	2: 31,382,387 (GRCm39)	M186K	probably damaging	Het
Btg3	T	A	16: 78,170,298 (GRCm39)	N3I	probably benign	Het
Cd163	T	C	6: 124,294,882 (GRCm39)	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,110,780 (GRCm39)	V27E	probably damaging	Het
Col12a1	A	T	9: 79,580,665 (GRCm39)	S1512T	probably benign	Het
Cstf1	A	G	2: 172,217,623 (GRCm39)	T79A	probably benign	Het
Defa24	T	C	8: 22,225,373 (GRCm39)	Y88H	probably benign	Het
Dgkz	C	T	2: 91,769,915 (GRCm39)	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,672,718 (GRCm39)	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,057,293 (GRCm39)	D293E	probably damaging	Het
Epb42	T	C	2: 120,854,767 (GRCm39)	D606G	probably benign	Het
Erich5	G	A	15: 34,453,844 (GRCm39)	G18S	probably benign	Het
Fam8a1	C	T	13: 46,827,868 (GRCm39)	T352M	probably benign	Het
Fastkd3	T	A	13: 68,731,835 (GRCm39)	L52Q	probably benign	Het
Fat3	G	A	9: 15,910,819 (GRCm39)	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,662,868 (GRCm39)	V39A	probably benign	Het
Gm7298	T	C	6: 121,742,030 (GRCm39)	V484A	probably benign	Het
Gpr75	A	G	11: 30,842,571 (GRCm39)	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,899,318 (GRCm39)	H36R	possibly damaging	Het
Insyn2a	A	G	7: 134,500,881 (GRCm39)	I408T	probably damaging	Het
Insyn2b	T	C	11: 34,352,707 (GRCm39)	S250P	probably benign	Het
Isy1	T	C	6: 87,798,513 (GRCm39)	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,544,010 (GRCm39)	P853L	probably damaging	Het
Man2b1	A	G	8: 85,822,022 (GRCm39)	T746A	probably damaging	Het
Mki67	A	G	7: 135,300,628 (GRCm39)	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,523,695 (GRCm39)	A26T	probably benign	Het
Mup10	T	A	4: 60,536,708 (GRCm39)	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,407,239 (GRCm39)	D514G	possibly damaging	Het
Pacs1	T	A	19: 5,185,030 (GRCm39)	S932C	probably damaging	Het
Pbx2	C	T	17: 34,813,563 (GRCm39)	R188C	probably damaging	Het
Pclo	C	T	5: 14,762,989 (GRCm39)	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,672,269 (GRCm39)	I377N	probably damaging	Het
Phip	T	C	9: 82,789,041 (GRCm39)	K758E	possibly damaging	Het
Pramel34	T	G	5: 93,785,944 (GRCm39)	D112A	probably benign	Het
Ptprm	C	T	17: 67,263,846 (GRCm39)	R467H	probably benign	Het
Rbm12b1	C	T	4: 12,145,689 (GRCm39)	R554C	probably benign	Het
Scnn1b	C	T	7: 121,502,067 (GRCm39)	R242C	probably damaging	Het
Seh1l	T	C	18: 67,908,134 (GRCm39)	S19P	possibly damaging	Het
Slc28a1	T	A	7: 80,817,715 (GRCm39)	V528D	probably benign	Het
Slc6a17	G	T	3: 107,379,507 (GRCm39)	Q554K	probably benign	Het
Spag16	G	A	1: 70,338,928 (GRCm39)		probably null	Het
Spata31d1e	C	T	13: 59,890,015 (GRCm39)	E184K	possibly damaging	Het
Srfbp1	T	A	18: 52,623,117 (GRCm39)	N377K	possibly damaging	Het
Stap2	A	G	17: 56,304,895 (GRCm39)	S296P	probably benign	Het
Tnr	A	T	1: 159,740,359 (GRCm39)	I1178F	probably damaging	Het
Tomt	C	T	7: 101,550,350 (GRCm39)	A139T	probably damaging	Het
Trak2	T	C	1: 58,974,967 (GRCm39)	Q75R	probably benign	Het
Tulp1	T	C	17: 28,583,468 (GRCm39)	K58E	probably benign	Het
Utp6	A	G	11: 79,834,055 (GRCm39)		probably null	Het
Vmn1r21	T	C	6: 57,820,998 (GRCm39)	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127 (GRCm39)	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,048,666 (GRCm39)	I247N	probably damaging	Het
Vps33b	T	C	7: 79,932,241 (GRCm39)	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,940,226 (GRCm39)	V837E	probably damaging	Het
Xirp2	C	T	2: 67,312,707 (GRCm39)	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,568,434 (GRCm39)	D883E	probably benign	Het
Zbtb7a	C	A	10: 80,980,368 (GRCm39)	D187E	probably benign	Het
Zfp511	T	C	7: 139,617,442 (GRCm39)	V148A	probably damaging	Het
Zfp52	A	G	17: 21,780,692 (GRCm39)	D180G	possibly damaging	Het

Other mutations in Bckdk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACATTCCACCTTTAGAGACAATAGG -3'
(R):5'- GGAGCCACCAAGATACTCTG -3'

Sequencing Primer
(F):5'- TAGGAATAGACCCAGCACTGTATG -3'
(R):5'- AAGATACTCTGCATATGCCCTGG -3'

Posted On

2021-08-31