Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Bckdhb'

54416

Institutional Source

Beutler Lab

Gene Symbol

Bckdhb

Ensembl Gene

ENSMUSG00000032263

Gene Name

branched chain ketoacid dehydrogenase E1, beta polypeptide

Synonyms

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0608 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

83807198-84006293 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83835789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 98 (F98V)

Ref Sequence

ENSEMBL: ENSMUSP00000139684 (fasta)

Gene Model

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

AlphaFold

Q6P3A8

Predicted Effect

probably damaging
Transcript: ENSMUST00000034801
AA Change: F30V

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

SMART Domains

Protein: ENSMUSP00000034801
Gene: ENSMUSG00000032263
AA Change: F30V

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 damaging
Transcript: ENSMUST00000190166
AA Change: F30V

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

SMART Domains

Protein: ENSMUSP00000140598
Gene: ENSMUSG00000032263
AA Change: F30V

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 damaging
Transcript: ENSMUST00000190637
AA Change: F98V

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

SMART Domains

Protein: ENSMUSP00000139684
Gene: ENSMUSG00000032263
AA Change: F98V

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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ampd3	C	A	7: 110,394,997 (GRCm39)	D315E	probably damaging	Het
Ampd3	T	A	7: 110,394,998 (GRCm39)	F316I	probably damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,100,588 (GRCm39)		probably null	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,100,699 (GRCm39)	R90C	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cep128	T	G	12: 90,966,309 (GRCm39)		probably benign	Het
Cep72	A	T	13: 74,186,423 (GRCm39)	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,012,364 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah17	G	T	11: 117,981,575 (GRCm39)	Y1716*	probably null	Het
Dnm1	T	C	2: 32,225,836 (GRCm39)	E383G	possibly damaging	Het
Dst	C	A	1: 34,329,437 (GRCm39)		probably null	Het
Edil3	T	C	13: 89,332,968 (GRCm39)	S375P	probably damaging	Het
Eme1	A	G	11: 94,540,908 (GRCm39)	C277R	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,420,953 (GRCm39)	V341M	probably benign	Het
Fgf14	A	G	14: 124,914,015 (GRCm39)	S39P	probably damaging	Het
Fmo4	C	T	1: 162,631,220 (GRCm39)	R249H	possibly damaging	Het
Gle1	T	A	2: 29,830,240 (GRCm39)	D265E	probably benign	Het
Gml2	T	C	15: 74,693,235 (GRCm39)		probably null	Het
Golgb1	G	T	16: 36,736,692 (GRCm39)	E1980*	probably null	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Heca	T	C	10: 17,791,039 (GRCm39)	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479 (GRCm39)	T101A	possibly damaging	Het
Ift88	T	C	14: 57,733,678 (GRCm39)	V707A	probably benign	Het
Kdm3a	C	T	6: 71,597,030 (GRCm39)	G252D	probably benign	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,924,137 (GRCm39)	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,316,587 (GRCm39)	N2131K	probably benign	Het
Magi3	C	G	3: 103,924,873 (GRCm39)	G1092A	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mrps26	G	T	2: 130,405,778 (GRCm39)	R27L	possibly damaging	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Naif1	T	C	2: 32,344,908 (GRCm39)	M204T	probably benign	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Neb	A	T	2: 52,216,769 (GRCm39)	D135E	probably benign	Het
Nlrp6	C	T	7: 140,503,399 (GRCm39)	Q502*	probably null	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Obi1	T	C	14: 104,716,963 (GRCm39)	Y470C	probably damaging	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Pnpla8	C	T	12: 44,330,246 (GRCm39)	P48L	probably benign	Het
Rab44	T	A	17: 29,366,317 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,329,720 (GRCm39)	I3031T	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Serpinh1	A	G	7: 98,998,601 (GRCm39)	C10R	unknown	Het
Sh2d4a	A	G	8: 68,799,346 (GRCm39)	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spire1	T	C	18: 67,661,945 (GRCm39)	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Susd2	C	T	10: 75,474,069 (GRCm39)	A509T	probably benign	Het
Sycp2	A	G	2: 178,024,197 (GRCm39)	F396L	probably damaging	Het
Syne2	T	C	12: 76,010,587 (GRCm39)	L2499P	probably damaging	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tab2	C	T	10: 7,795,883 (GRCm39)	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,148,317 (GRCm39)	T363A	probably damaging	Het
Terb2	A	G	2: 122,016,816 (GRCm39)	D16G	probably benign	Het
Tm2d2	A	G	8: 25,510,552 (GRCm39)	E137G	probably benign	Het
Trim30d	T	A	7: 104,121,692 (GRCm39)	H201L	probably damaging	Het
Tspan3	A	G	9: 56,054,669 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,617,667 (GRCm39)	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,626,529 (GRCm39)		probably null	Het
Ubap2	T	A	4: 41,218,319 (GRCm39)	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,886,138 (GRCm39)	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,965,615 (GRCm39)	E615G	probably damaging	Het
Zfp655	T	A	5: 145,180,867 (GRCm39)	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,297,705 (GRCm39)	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,629,078 (GRCm39)		probably null	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
R1780:Bckdhb	UTSW	9	83,835,836 (GRCm39)	critical splice donor site	probably null
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'- gctgagccTCTTGATCTTGCTGAGT -3'
(R):5'- GGCTGAGCTTGACGACAGTGAT -3'

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

Posted On

2013-07-11