Mutagenetix > Incidental Mutations

Incidental Mutation 'R7490:Bckdk'

580679

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: 0.171) question?

Stock #

R7490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127904082-127910221 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127904973 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 15 (S15T)

Ref Sequence

ENSEMBL: ENSMUSP00000070345 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000071056
AA Change: S15T

SMART Domains

Protein: ENSMUSP00000070345
Gene: ENSMUSG00000030802
AA Change: S15T

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

unknown
Transcript: ENSMUST00000124533
AA Change: S15T

Predicted Effect

unknown
Transcript: ENSMUST00000151451
AA Change: S15T

SMART Domains

Protein: ENSMUSP00000116990
Gene: ENSMUSG00000030802
AA Change: S15T

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

unknown
Transcript: ENSMUST00000206140
AA Change: S15T

Predicted Effect

unknown
Transcript: ENSMUST00000206745
AA Change: S15T

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,163,230	D132G	possibly damaging	Het
Abca5	T	C	11: 110,277,611	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,256,600	Q549*	probably null	Het
Adcy4	A	G	14: 55,770,433	I893T	possibly damaging	Het
Ago1	A	T	4: 126,439,505	*858R	probably null	Het
Ank2	T	A	3: 126,958,889	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,648,300	T987A	probably benign	Het
Ap2a1	G	T	7: 44,902,789	N790K	probably benign	Het
Aqr	A	G	2: 114,158,868		probably null	Het
Arel1	G	T	12: 84,941,911	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,987,470	D743G	probably damaging	Het
Atp9a	A	T	2: 168,675,352	F354I	probably benign	Het
Bag6	A	G	17: 35,140,842	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,888,166		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,888,186		probably benign	Het
C4b	G	T	17: 34,731,080	Y1405*	probably null	Het
Camk4	G	A	18: 32,939,545		probably null	Het
Car11	T	A	7: 45,700,318	W16R	probably benign	Het
Ccdc80	A	C	16: 45,096,400	E506D	probably damaging	Het
Chmp6	C	T	11: 119,915,443	Q32*	probably null	Het
Colq	G	A	14: 31,545,086	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,477,285	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,786,657	I93L	unknown	Het
Dnaaf2	T	C	12: 69,197,606	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dnmt3a	G	A	12: 3,904,204	G792D	probably damaging	Het
Dsg4	T	A	18: 20,451,936		probably null	Het
Ecm2	C	T	13: 49,530,342	Q599*	probably null	Het
Fbxl13	T	A	5: 21,523,060	R550*	probably null	Het
Gm4302	A	T	10: 100,341,583	Q243L	unknown	Het
Gm7168	A	T	17: 13,949,013	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,647,491	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,571,141	D320E	probably damaging	Het
Hivep1	T	A	13: 42,157,650	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,718,934		probably null	Het
Irs1	T	A	1: 82,287,264	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,876,892	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,891,682	D318G	probably null	Het
L3mbtl3	C	T	10: 26,339,231	V194I	unknown	Het
Malt1	C	A	18: 65,448,211	Q237K	probably benign	Het
March11	C	T	15: 26,311,101	A221V	possibly damaging	Het
Mgea5	G	A	19: 45,767,447	R586*	probably null	Het
Nfe2l3	A	G	6: 51,457,544	I361M	possibly damaging	Het
Nrg1	G	A	8: 31,818,654	R493C	probably damaging	Het
Olfr1019	A	T	2: 85,840,963	V276E	probably damaging	Het
Olfr1212	A	C	2: 88,959,048	Y194S	probably benign	Het
Olfr453	T	C	6: 42,744,805	I256T	probably damaging	Het
Olfr577	G	A	7: 102,973,810	P61S	probably damaging	Het
Olfr828	A	T	9: 18,815,933	Y120*	probably null	Het
Olfr980	T	A	9: 40,006,424	H175L	probably damaging	Het
Orai3	C	T	7: 127,773,627	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066	M328L	probably benign	Het
Pan2	T	C	10: 128,308,440	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,916,265	D980V		Het
Ppp1r16b	T	C	2: 158,761,468	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,787,332	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,352,770	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,566,122	N494S	possibly damaging	Het
Rpl18a	T	C	8: 70,895,506	D147G	probably benign	Het
Scg3	T	C	9: 75,669,277	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 33,893,835	D184V	probably benign	Het
Simc1	T	G	13: 54,524,349	L170R	possibly damaging	Het
Slx4	T	C	16: 3,980,131	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,439,232		probably null	Het
Tas1r3	A	G	4: 155,862,023	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,182,520	D405G	probably damaging	Het
Tcerg1l	G	A	7: 138,259,828	P391S	probably damaging	Het
Tiam1	T	C	16: 89,898,195	S125G	probably benign	Het
Trim16	C	A	11: 62,834,123	H246N	probably damaging	Het
Tti1	T	A	2: 157,995,472	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,232,312	N395S	probably damaging	Het
Uggt1	T	C	1: 36,164,508	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,435,229	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,337,204	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,602,621		probably null	Het
Zcchc14	A	T	8: 121,605,017	S536T	unknown	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
dottie	UTSW	7	127906400	nonsense	probably null
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	unclassified	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
R7596:Bckdk	UTSW	7	127906400	nonsense	probably null
R7772:Bckdk	UTSW	7	127905901	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATAGATGGAAGCTGCTGTGCG -3'
(R):5'- TAGCTCAGCCCTTCCCCATAAG -3'

Sequencing Primer
(F):5'- AGCACGTCTGCATCCTCGAG -3'
(R):5'- CCCATAAGACTTATTCTGTGAGTCAC -3'

Posted On

2019-10-17