Mutagenetix > Incidental Mutation

Incidental Mutation 'R5655:Bckdha'

442251

Institutional Source

Beutler Lab

Gene Symbol

Bckdha

Ensembl Gene

ENSMUSG00000060376

Gene Name

branched chain ketoacid dehydrogenase E1, alpha polypeptide

Synonyms

BCKAD E1[a]

MMRRC Submission

043301-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R5655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25329371-25358178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25329789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 414 (Y414H)

Ref Sequence

ENSEMBL: ENSMUSP00000071292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000076034] [ENSMUST00000077338] [ENSMUST00000085953] [ENSMUST00000205281] [ENSMUST00000205808] [ENSMUST00000206940]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071329
AA Change: Y414H

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

SMART Domains

Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376
AA Change: Y414H

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
Pfam:E1_dh	107	407	2.9e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076034

SMART Domains

Protein: ENSMUSP00000092277
Gene: ENSMUSG00000059479

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:Galactosyl_T	154	344	2.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077338

SMART Domains

Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229

Domain	Start	End	E-Value	Type
PDB:3E4G\|A	82	213	2e-10	PDB
SCOP:d1fqva2	109	209	2e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085953

SMART Domains

Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229

Domain	Start	End	E-Value	Type
PDB:3E4G\|A	81	212	3e-10	PDB
SCOP:d1fqva2	108	208	3e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205281

Predicted Effect

probably benign
Transcript: ENSMUST00000205808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206824

Predicted Effect

probably benign
Transcript: ENSMUST00000206940

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,796,746 (GRCm39)	I99F	probably benign	Het
Acan	G	A	7: 78,749,791 (GRCm39)	D1521N	possibly damaging	Het
Acap3	C	T	4: 155,981,076 (GRCm39)	T53I	probably benign	Het
Actr3b	G	T	5: 26,053,366 (GRCm39)	V232F	probably damaging	Het
Adgrl1	G	A	8: 84,665,230 (GRCm39)	V1311M	possibly damaging	Het
Arhgap23	T	C	11: 97,343,372 (GRCm39)		probably null	Het
Asns	A	C	6: 7,685,309 (GRCm39)	M116R	probably benign	Het
Asprv1	A	T	6: 86,605,464 (GRCm39)	E103D	probably benign	Het
Atxn2	T	C	5: 121,885,489 (GRCm39)	I232T	probably damaging	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Bod1l	G	A	5: 41,974,387 (GRCm39)	T2309M	probably benign	Het
Cacna2d1	T	A	5: 16,507,333 (GRCm39)	F361I	probably damaging	Het
Cdc45	C	T	16: 18,626,029 (GRCm39)		probably null	Het
Cog4	A	G	8: 111,589,939 (GRCm39)	Y368C	probably damaging	Het
Cplx3	C	T	9: 57,523,258 (GRCm39)	V100M	probably damaging	Het
Cyp4a12b	C	G	4: 115,290,994 (GRCm39)	H341D	probably damaging	Het
Ddx10	A	T	9: 53,120,987 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,431,424 (GRCm39)	Y414F	probably benign	Het
Dync1h1	A	G	12: 110,595,496 (GRCm39)	K1445R	probably benign	Het
Dync2h1	A	C	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
Dzip1	T	A	14: 119,124,644 (GRCm39)		probably null	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fgf14	T	C	14: 124,429,828 (GRCm39)	N36D	probably benign	Het
Fmnl3	A	T	15: 99,219,743 (GRCm39)	F668L	probably damaging	Het
Foxl2	C	T	9: 98,838,048 (GRCm39)	P112L	probably damaging	Het
Foxp2	T	G	6: 15,197,112 (GRCm39)	H51Q	probably damaging	Het
Frem3	A	T	8: 81,339,323 (GRCm39)	T539S	probably benign	Het
Ftcd	G	T	10: 76,423,937 (GRCm39)	G493C	probably damaging	Het
Gab2	A	G	7: 96,948,099 (GRCm39)	S230G	probably benign	Het
Gabra1	A	T	11: 42,073,750 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,637,975 (GRCm39)	I350L	probably benign	Het
Idh2	A	C	7: 79,747,996 (GRCm39)	C235G	probably damaging	Het
Ift140	C	T	17: 25,264,038 (GRCm39)	L514F	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lamc3	C	A	2: 31,815,729 (GRCm39)	R1142S	probably benign	Het
Lmod2	A	T	6: 24,603,853 (GRCm39)	H276L	possibly damaging	Het
Lrrc37a	T	A	11: 103,389,381 (GRCm39)	I2015L	probably benign	Het
Mcf2l	A	G	8: 13,060,444 (GRCm39)	E764G	probably damaging	Het
Mcph1	G	A	8: 18,838,326 (GRCm39)	M749I	probably benign	Het
Msh2	C	T	17: 88,026,871 (GRCm39)	A789V	possibly damaging	Het
Ndufa2	T	C	18: 36,877,519 (GRCm39)	I19V	probably benign	Het
Neurod4	T	A	10: 130,107,002 (GRCm39)	K91*	probably null	Het
Nos1	G	T	5: 118,061,322 (GRCm39)	G883C	probably damaging	Het
Npdc1	A	T	2: 25,297,692 (GRCm39)	H121L	possibly damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or3a10	A	C	11: 73,935,160 (GRCm39)	Y313*	probably null	Het
Orc1	A	G	4: 108,450,636 (GRCm39)	I123V	probably benign	Het
P2ry13	C	T	3: 59,117,260 (GRCm39)	V173M	possibly damaging	Het
Pigk	T	A	3: 152,445,858 (GRCm39)	N156K	probably damaging	Het
Pik3ap1	A	T	19: 41,286,680 (GRCm39)	F569Y	possibly damaging	Het
Pla2g4c	T	A	7: 13,063,889 (GRCm39)		probably null	Het
Plk3	A	G	4: 116,988,677 (GRCm39)	L324P	probably damaging	Het
Pom121	A	G	5: 135,421,171 (GRCm39)	S260P	unknown	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prrt2	G	A	7: 126,618,574 (GRCm39)	A297V	probably damaging	Het
Prss47	A	T	13: 65,192,857 (GRCm39)	V308E	probably damaging	Het
Ptbp2	T	C	3: 119,517,806 (GRCm39)	I139V	probably benign	Het
Ptprz1	A	T	6: 22,999,772 (GRCm39)	M621L	probably benign	Het
Rab6a	G	A	7: 100,257,501 (GRCm39)		probably null	Het
Ranbp1	C	T	16: 18,059,669 (GRCm39)	D127N	probably damaging	Het
Rnpepl1	G	T	1: 92,847,032 (GRCm39)	R272L	probably damaging	Het
Slc27a2	T	C	2: 126,420,859 (GRCm39)	L314P	probably damaging	Het
Slc6a5	A	T	7: 49,606,218 (GRCm39)	M709L	probably benign	Het
Smarcc1	A	T	9: 109,986,412 (GRCm39)	S238C	probably null	Het
Snx29	C	T	16: 11,573,185 (GRCm39)	L476F	probably damaging	Het
Sorbs2	T	C	8: 46,194,618 (GRCm39)		probably null	Het
St6galnac2	T	C	11: 116,575,972 (GRCm39)	N160D	probably damaging	Het
Thsd7b	A	G	1: 129,556,671 (GRCm39)		probably null	Het
Trpc4ap	G	A	2: 155,495,547 (GRCm39)	T306I	possibly damaging	Het
Ubr5	T	G	15: 38,015,337 (GRCm39)	Y891S	probably damaging	Het
Vmn1r220	A	G	13: 23,368,298 (GRCm39)	F133L	probably benign	Het
Vmn1r56	T	A	7: 5,198,700 (GRCm39)	I306F	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,315 (GRCm39)	V193A	probably benign	Het
Yipf1	T	A	4: 107,202,354 (GRCm39)	V239E	probably damaging	Het
Zfp7	G	T	15: 76,775,629 (GRCm39)	C557F	probably damaging	Het

Other mutations in Bckdha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Bckdha	APN	7	25,332,767 (GRCm39)	missense	probably benign	0.00
IGL01322:Bckdha	APN	7	25,358,132 (GRCm39)	missense	possibly damaging	0.75
IGL02279:Bckdha	APN	7	25,330,534 (GRCm39)	missense	probably damaging	1.00
R0071:Bckdha	UTSW	7	25,329,868 (GRCm39)	splice site	probably null
R0071:Bckdha	UTSW	7	25,329,868 (GRCm39)	splice site	probably null
R0194:Bckdha	UTSW	7	25,330,875 (GRCm39)	missense	probably damaging	1.00
R0615:Bckdha	UTSW	7	25,341,210 (GRCm39)	missense	probably benign	0.00
R1806:Bckdha	UTSW	7	25,330,845 (GRCm39)	missense	probably damaging	1.00
R2520:Bckdha	UTSW	7	25,341,124 (GRCm39)	missense	probably benign	0.18
R3847:Bckdha	UTSW	7	25,331,077 (GRCm39)	missense	probably damaging	1.00
R3975:Bckdha	UTSW	7	25,330,858 (GRCm39)	missense	probably damaging	1.00
R4630:Bckdha	UTSW	7	25,330,884 (GRCm39)	missense	probably damaging	1.00
R6030:Bckdha	UTSW	7	25,330,866 (GRCm39)	missense	probably damaging	1.00
R6030:Bckdha	UTSW	7	25,330,866 (GRCm39)	missense	probably damaging	1.00
R7961:Bckdha	UTSW	7	25,330,903 (GRCm39)	missense	probably damaging	1.00
R8202:Bckdha	UTSW	7	25,329,738 (GRCm39)	missense	probably damaging	1.00
R8344:Bckdha	UTSW	7	25,330,872 (GRCm39)	missense	probably damaging	1.00
R8932:Bckdha	UTSW	7	25,330,436 (GRCm39)	missense	probably damaging	0.99
R9089:Bckdha	UTSW	7	25,341,144 (GRCm39)	missense	probably benign	0.03
R9782:Bckdha	UTSW	7	25,340,880 (GRCm39)	critical splice donor site	probably null
Z1176:Bckdha	UTSW	7	25,330,568 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTTCGCACAGCTGACTAG -3'
(R):5'- TTGCAGAGCTGAGCTGACAG -3'

Sequencing Primer
(F):5'- TAGCACAGGGGGCAGCATC -3'
(R):5'- GCTAGGCTCTGGAATGTTCATTAAC -3'

Posted On

2016-11-09