Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Bckdhb'

197456

Institutional Source

Beutler Lab

Gene Symbol

Bckdhb

Ensembl Gene

ENSMUSG00000032263

Gene Name

branched chain ketoacid dehydrogenase E1, beta polypeptide

Synonyms

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83925145-84124240 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 83953783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034801] [ENSMUST00000190166] [ENSMUST00000190637]

AlphaFold

Q6P3A8

Predicted Effect

probably null
Transcript: ENSMUST00000034801

SMART Domains

Protein: ENSMUSP00000034801
Gene: ENSMUSG00000032263

Domain	Start	End	E-Value	Type
Transket_pyr	1	176	4.92e-60	SMART
Pfam:Transketolase_C	191	312	1.5e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000190166

SMART Domains

Protein: ENSMUSP00000140598
Gene: ENSMUSG00000032263

Domain	Start	End	E-Value	Type
Transket_pyr	1	176	4.92e-60	SMART
Pfam:Transketolase_C	191	309	3.1e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000190637

SMART Domains

Protein: ENSMUSP00000139684
Gene: ENSMUSG00000032263

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Transket_pyr	69	244	4.92e-60	SMART
Pfam:Transketolase_C	259	377	1.1e-37	PFAM

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

MGI Phenotype

FUNCTION: This gene encodes the beta chain of the branched chain alpha ketoacid dehydrogenase (Bckdh) complex. The encoded protein exists in a heterotetrameric complex containing the Bckdh alpha subunit to form the E1 catalytic component of Bckdh complex. The Bckdh complex catalyzes the oxidative decarboxylation of branched chain ketoacids to their corresponding acyl-CoA esters, during the catabolism of leucine, isoleucine and valine. In humans, certain mutations in this gene cause maple syrup urine disease. Alternative splicing results in multiple transcript variants encoding different isoforms. A pseudogene for this gene has been identified. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,852,593	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897	Y174*	probably null	Het
Bche	A	G	3: 73,700,620	I491T	probably benign	Het
Cadps2	C	T	6: 23,320,932		probably null	Het
Cdc42bpb	A	T	12: 111,322,907	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876		probably benign	Het
Cyp2c39	C	A	19: 39,538,851		probably benign	Het
Cyp2d26	T	C	15: 82,794,007	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147		probably benign	Het
Dnah11	A	T	12: 118,027,558	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324	R515*	probably null	Het
Hsd17b6	A	G	10: 127,994,327		probably null	Het
Hyal6	C	T	6: 24,734,032		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mx1	T	C	16: 97,451,512	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185	E1970G	probably damaging	Het
Mypn	T	C	10: 63,121,964	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336		probably null	Het
Slc13a3	T	C	2: 165,406,699	N553S	unknown	Het
Smg6	T	A	11: 74,946,116	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454		probably null	Het
Tmed10	A	G	12: 85,354,879	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327	H841N	probably damaging	Het

Other mutations in Bckdhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Bckdhb	APN	9	83991736	missense	probably benign
IGL02537:Bckdhb	APN	9	83989141	missense	probably benign	0.07
IGL02808:Bckdhb	APN	9	83988845	missense	probably benign	0.05
R0608:Bckdhb	UTSW	9	83953736	missense	probably damaging	1.00
R3892:Bckdhb	UTSW	9	83988810	missense	probably damaging	1.00
R4825:Bckdhb	UTSW	9	83988905	missense	probably damaging	1.00
R6018:Bckdhb	UTSW	9	84069184	missense	probably benign	0.41
R6823:Bckdhb	UTSW	9	83953761	missense	possibly damaging	0.76
R7350:Bckdhb	UTSW	9	84010326	missense	possibly damaging	0.93
R7383:Bckdhb	UTSW	9	83953713	missense	possibly damaging	0.66
R7759:Bckdhb	UTSW	9	84010326	missense	probably damaging	0.96
R8269:Bckdhb	UTSW	9	84122364	missense	probably benign	0.01
R8465:Bckdhb	UTSW	9	83988862	missense	probably benign	0.27
R9144:Bckdhb	UTSW	9	84012609	missense	probably damaging	0.99
R9312:Bckdhb	UTSW	9	83988780	missense	probably benign	0.00
R9607:Bckdhb	UTSW	9	83989291	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- tgctgagccTCTTGATCTTGCTGA -3'
(R):5'- GGCTGAGCTTGACGACAGTGAT -3'

Sequencing Primer
(F):5'- cTCTTGATCTTGCTGAGTTCTTAAAG -3'
(R):5'- GCAACAATCCATGTTGTGAACTG -3'

Posted On

2014-05-23