Mutagenetix > Incidental Mutation

Incidental Mutation 'R7772:Bckdk'

598645

Institutional Source

Beutler Lab

Gene Symbol

Bckdk

Ensembl Gene

ENSMUSG00000030802

Gene Name

branched chain ketoacid dehydrogenase kinase

Synonyms

BCKD-kinase

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127904082-127910221 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127905901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 151 (Y151C)

Ref Sequence

ENSEMBL: ENSMUSP00000070345 (fasta)

Gene Model

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

AlphaFold

O55028

Predicted Effect

probably damaging
Transcript: ENSMUST00000071056
AA Change: Y151C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070345
Gene: ENSMUSG00000030802
AA Change: Y151C

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 damaging
Transcript: ENSMUST00000124533
AA Change: Y151C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000151451
AA Change: Y151C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116990
Gene: ENSMUSG00000030802
AA Change: Y151C

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: ENSMUST00000206068

Predicted Effect

probably damaging
Transcript: ENSMUST00000206140
AA Change: Y142C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206745
AA Change: Y151C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,889,784		probably null	Het
Adora3	T	C	3: 105,907,723	V263A	probably benign	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Arfgef1	A	G	1: 10,157,010	V1368A	possibly damaging	Het
Arid4a	A	T	12: 71,061,589	N56I	possibly damaging	Het
Art3	A	T	5: 92,403,613	Y277F	probably damaging	Het
Atp2a1	A	T	7: 126,448,535		probably null	Het
Banf1	T	C	19: 5,365,122	K54E	possibly damaging	Het
C1qtnf3	C	A	15: 10,958,044	P58T	possibly damaging	Het
Cadps2	T	C	6: 23,390,446	R744G	probably benign	Het
Cdc25b	A	G	2: 131,189,109	D118G	probably damaging	Het
Cnot9	G	A	1: 74,526,992	V181I	probably damaging	Het
Cobl	C	T	11: 12,254,488	G738D	probably benign	Het
Col18a1	T	A	10: 77,068,386		probably null	Het
Crnkl1	A	G	2: 145,930,644	V171A	probably benign	Het
Dhx57	C	T	17: 80,273,078	D482N	possibly damaging	Het
Dpysl2	A	T	14: 66,828,976		probably null	Het
Drd3	G	T	16: 43,762,395	A52S	probably benign	Het
Dst	T	C	1: 34,181,388	V2091A	possibly damaging	Het
Evpl	T	C	11: 116,221,435	T1810A	probably benign	Het
Fbxo2	T	A	4: 148,164,326	W92R	probably damaging	Het
Gas2l2	T	A	11: 83,429,277	D51V	possibly damaging	Het
Gm11232	A	T	4: 71,756,581	V228E	possibly damaging	Het
Gm14305	C	T	2: 176,720,971	Q219*	probably null	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gpr39	G	T	1: 125,677,597	M87I	possibly damaging	Het
Heatr1	T	C	13: 12,417,641	M1089T	probably benign	Het
Ifi206	A	T	1: 173,481,074	M452K		Het
Ints8	A	T	4: 11,227,190	I561N	probably damaging	Het
Itgb2	A	T	10: 77,561,112	K660N	probably benign	Het
Jun	A	C	4: 95,050,844	V143G	probably benign	Het
Kalrn	A	G	16: 34,031,582	M2076T	probably benign	Het
Krt10	G	T	11: 99,389,087	S82R	unknown	Het
Lipm	T	A	19: 34,117,891	H295Q	probably damaging	Het
Mybpc2	A	C	7: 44,515,924		probably null	Het
Nedd4	T	C	9: 72,677,326	V103A	possibly damaging	Het
Nol10	T	C	12: 17,348,585	I11T	probably damaging	Het
Nup210l	A	G	3: 90,159,926	S758G	probably damaging	Het
Olfr270	T	A	4: 52,970,713	C31S	probably damaging	Het
Olfr584	T	G	7: 103,086,181	I216S	probably benign	Het
Olfr985	T	C	9: 40,127,365	I199V	probably benign	Het
Osbpl9	T	C	4: 109,066,187	H425R	probably damaging	Het
Parp1	G	T	1: 180,589,398	R582S	possibly damaging	Het
Piwil1	A	T	5: 128,739,463	R36S	probably benign	Het
Pjvk	T	C	2: 76,657,533		probably null	Het
Plekha6	G	T	1: 133,170,022	E31D	possibly damaging	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,790,701		probably benign	Het
Psmc6	T	A	14: 45,343,650	I301N	probably damaging	Het
Rfpl4	C	A	7: 5,115,544	S9I	probably benign	Het
Rnf14	G	T	18: 38,309,576	C310F	probably damaging	Het
Rnf17	T	A	14: 56,477,687	F845L	probably benign	Het
Robo2	T	C	16: 73,961,889	I665V	probably benign	Het
Rtl1	T	A	12: 109,593,185	H740L	probably damaging	Het
Ryr2	A	G	13: 11,751,011	S1280P	probably benign	Het
Slc12a8	G	A	16: 33,550,965	R126H	probably damaging	Het
Slc9a1	T	C	4: 133,411,965	F165L	probably damaging	Het
Snx19	T	C	9: 30,428,925	I453T	probably damaging	Het
Spag17	T	C	3: 100,080,118	Y1575H	probably damaging	Het
Spef2	T	C	15: 9,704,481	I415M	probably damaging	Het
Ssx2ip	T	G	3: 146,433,130	I459S	probably damaging	Het
Stfa1	A	G	16: 36,277,001		probably null	Het
Tmem156	A	T	5: 65,080,174	S48T	probably damaging	Het
Tmx3	T	A	18: 90,527,794		probably null	Het
Unc93a	A	T	17: 13,109,752	F405I	possibly damaging	Het
Vmn1r209	T	A	13: 22,806,494	I9F	possibly damaging	Het
Vmn2r93	A	G	17: 18,313,220	D462G	probably damaging	Het
Wdr90	T	A	17: 25,861,491		probably benign	Het
Zfp551	T	C	7: 12,418,608	D66G	probably damaging	Het
Znrf4	A	C	17: 56,512,247	V20G	possibly damaging	Het
Zscan4d	T	C	7: 11,162,843	E200G	probably benign	Het
Zufsp	A	T	10: 33,921,702		probably null	Het

Other mutations in Bckdk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Bckdk	APN	7	127905776	missense	possibly damaging	0.67
IGL02176:Bckdk	APN	7	127906373	missense	probably benign	0.31
IGL02444:Bckdk	APN	7	127907446	missense	probably damaging	1.00
daft	UTSW	7	127908010	missense	probably benign	0.04
dottie	UTSW	7	127906400	nonsense	probably null
morse	UTSW	7	127907486	missense	probably null	0.94
Squished	UTSW	7	127905418	missense	probably damaging	1.00
R2105:Bckdk	UTSW	7	127907317	missense	probably damaging	1.00
R2240:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R2252:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R2474:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R3696:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R3697:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R3747:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R3749:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R3750:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R3981:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R4091:Bckdk	UTSW	7	127905418	missense	probably damaging	1.00
R4303:Bckdk	UTSW	7	127905330	intron	probably benign
R4367:Bckdk	UTSW	7	127906419	missense	probably benign	0.07
R4369:Bckdk	UTSW	7	127906419	missense	probably benign	0.07
R4371:Bckdk	UTSW	7	127906419	missense	probably benign	0.07
R4841:Bckdk	UTSW	7	127905461	splice site	probably null
R5615:Bckdk	UTSW	7	127907317	missense	probably damaging	1.00
R5930:Bckdk	UTSW	7	127905973	missense	probably damaging	1.00
R7215:Bckdk	UTSW	7	127905110	missense	possibly damaging	0.82
R7490:Bckdk	UTSW	7	127904973	missense	unknown
R7596:Bckdk	UTSW	7	127906400	nonsense	probably null
R7973:Bckdk	UTSW	7	127906367	missense	probably benign	0.21
R8395:Bckdk	UTSW	7	127907967	missense	probably benign	0.08
R8396:Bckdk	UTSW	7	127905759	missense	probably damaging	1.00
R8930:Bckdk	UTSW	7	127908010	missense	probably benign	0.04
R8932:Bckdk	UTSW	7	127908010	missense	probably benign	0.04
R9102:Bckdk	UTSW	7	127907486	missense	probably null	0.94
R9361:Bckdk	UTSW	7	127907343	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTTAAGTGTCTATGGCAGCCC -3'
(R):5'- CCAAGAAGTACCGGACTAGC -3'

Sequencing Primer
(F):5'- ATGGCAGCCCTGTGAATTC -3'
(R):5'- AGAAGTACCGGACTAGCTTTTCATCC -3'

Posted On

2019-11-26