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

83807198-84006293 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 83835836 bp (GRCm39)

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: 148,558,229 (GRCm39)	E493G	probably damaging	Het
Aff3	A	T	1: 38,574,783 (GRCm39)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,380,274 (GRCm39)	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,091,138 (GRCm39)	T156A	probably benign	Het
Arhgef4	T	A	1: 34,763,241 (GRCm39)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,738,674 (GRCm39)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,873,291 (GRCm39)	T25A	probably benign	Het
Atp13a2	T	A	4: 140,729,771 (GRCm39)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,820,112 (GRCm39)	Y174*	probably null	Het
Bche	A	G	3: 73,607,953 (GRCm39)	I491T	probably benign	Het
Cadps2	C	T	6: 23,320,931 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,289,341 (GRCm39)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,120,270 (GRCm39)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,814,077 (GRCm39)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,007 (GRCm39)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,541,301 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,527,295 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,678,208 (GRCm39)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,429,926 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,991,293 (GRCm39)	C2358S	probably damaging	Het
Entpd8	T	C	2: 24,974,318 (GRCm39)	S368P	probably benign	Het
Epg5	A	T	18: 78,067,205 (GRCm39)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,206,956 (GRCm39)	V623E	probably benign	Het
Flg2	A	G	3: 93,110,306 (GRCm39)	E778G	unknown	Het
Gbe1	C	T	16: 70,292,212 (GRCm39)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,830,196 (GRCm39)		probably null	Het
Hyal6	C	T	6: 24,734,031 (GRCm39)		probably benign	Het
Ifi27l2b	A	G	12: 103,417,578 (GRCm39)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,384,250 (GRCm39)	D309E	unknown	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm39)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mx1	T	C	16: 97,252,712 (GRCm39)	*289W	probably null	Het
Myo7b	T	C	18: 32,094,238 (GRCm39)	E1970G	probably damaging	Het
Mypn	T	C	10: 62,957,743 (GRCm39)	Y24C	probably damaging	Het
Naxe	G	C	3: 87,964,440 (GRCm39)	P167A	probably benign	Het
Nmnat2	A	T	1: 152,988,186 (GRCm39)	K272*	probably null	Het
Nmnat3	C	T	9: 98,236,164 (GRCm39)	T19M	probably damaging	Het
Or4f52	T	C	2: 111,062,043 (GRCm39)	I32V	probably benign	Het
Or51b17	A	T	7: 103,542,762 (GRCm39)	F60Y	probably damaging	Het
Or51b4	A	G	7: 103,530,799 (GRCm39)	V217A	probably benign	Het
Or5b118	A	G	19: 13,448,726 (GRCm39)	T131A	probably benign	Het
Or9s27	G	A	1: 92,516,111 (GRCm39)	V20M	probably benign	Het
Pgm3	T	G	9: 86,438,257 (GRCm39)	E509D	probably damaging	Het
Phf3	A	T	1: 30,851,023 (GRCm39)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,800,543 (GRCm39)	S3062A	probably benign	Het
Pogz	A	T	3: 94,777,437 (GRCm39)	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,320,356 (GRCm39)	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,732,368 (GRCm39)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,284,742 (GRCm39)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,310,324 (GRCm39)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,130,325 (GRCm39)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,030,496 (GRCm39)	S1307P	probably benign	Het
Rspo1	A	G	4: 124,901,538 (GRCm39)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,697,637 (GRCm39)	M922I	probably damaging	Het
Samm50	C	T	15: 84,095,328 (GRCm39)	A438V	probably damaging	Het
Sec1	A	C	7: 45,328,256 (GRCm39)	S264A	probably benign	Het
Sec31a	A	T	5: 100,529,195 (GRCm39)		probably null	Het
Slc13a3	T	C	2: 165,248,619 (GRCm39)	N553S	unknown	Het
Smg6	T	A	11: 74,836,942 (GRCm39)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,929,174 (GRCm39)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,365,113 (GRCm39)	R648G	probably damaging	Het
Sugct	T	G	13: 17,627,039 (GRCm39)		probably null	Het
Tmed10	A	G	12: 85,401,653 (GRCm39)	Y85H	probably damaging	Het
Trim68	A	G	7: 102,333,280 (GRCm39)	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,124 (GRCm39)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,067,176 (GRCm39)	R21W	probably damaging	Het
Ttn	T	C	2: 76,641,043 (GRCm39)	I11863V	probably null	Het
Ubp1	G	A	9: 113,793,647 (GRCm39)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,205,744 (GRCm39)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,481,999 (GRCm39)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,703,668 (GRCm39)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,805,424 (GRCm39)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,656,029 (GRCm39)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,794,914 (GRCm39)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,933,794 (GRCm39)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,766,395 (GRCm39)	H841N	probably damaging	Het

Other mutations in Bckdhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Bckdhb	APN	9	83,873,789 (GRCm39)	missense	probably benign
IGL02537:Bckdhb	APN	9	83,871,194 (GRCm39)	missense	probably benign	0.07
IGL02808:Bckdhb	APN	9	83,870,898 (GRCm39)	missense	probably benign	0.05
R0608:Bckdhb	UTSW	9	83,835,789 (GRCm39)	missense	probably damaging	1.00
R3892:Bckdhb	UTSW	9	83,870,863 (GRCm39)	missense	probably damaging	1.00
R4825:Bckdhb	UTSW	9	83,870,958 (GRCm39)	missense	probably damaging	1.00
R6018:Bckdhb	UTSW	9	83,951,237 (GRCm39)	missense	probably benign	0.41
R6823:Bckdhb	UTSW	9	83,835,814 (GRCm39)	missense	possibly damaging	0.76
R7350:Bckdhb	UTSW	9	83,892,379 (GRCm39)	missense	possibly damaging	0.93
R7383:Bckdhb	UTSW	9	83,835,766 (GRCm39)	missense	possibly damaging	0.66
R7759:Bckdhb	UTSW	9	83,892,379 (GRCm39)	missense	probably damaging	0.96
R8269:Bckdhb	UTSW	9	84,004,417 (GRCm39)	missense	probably benign	0.01
R8465:Bckdhb	UTSW	9	83,870,915 (GRCm39)	missense	probably benign	0.27
R9144:Bckdhb	UTSW	9	83,894,662 (GRCm39)	missense	probably damaging	0.99
R9312:Bckdhb	UTSW	9	83,870,833 (GRCm39)	missense	probably benign	0.00
R9607:Bckdhb	UTSW	9	83,871,344 (GRCm39)	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