Mutagenetix > Incidental Mutation

Incidental Mutation 'R7383:Bckdhb'

572882

Institutional Source

Beutler Lab

Gene Symbol

Bckdhb

Ensembl Gene

ENSMUSG00000032263

Gene Name

branched chain ketoacid dehydrogenase E1, beta polypeptide

Synonyms

MMRRC Submission

045465-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83807198-84006293 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83835766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 90 (V90G)

Ref Sequence

ENSEMBL: ENSMUSP00000139684 (fasta)

Gene Model

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

AlphaFold

Q6P3A8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034801
AA Change: V22G

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034801
Gene: ENSMUSG00000032263
AA Change: V22G

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

possibly damaging
Transcript: ENSMUST00000190166
AA Change: V22G

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140598
Gene: ENSMUSG00000032263
AA Change: V22G

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

possibly damaging
Transcript: ENSMUST00000190637
AA Change: V90G

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139684
Gene: ENSMUSG00000032263
AA Change: V90G

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	A	11: 5,818,548 (GRCm39)	I511N	probably damaging	Het
Ap5m1	T	G	14: 49,311,653 (GRCm39)	V241G	possibly damaging	Het
BC049715	T	A	6: 136,817,453 (GRCm39)	I231N	probably damaging	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Chd8	T	C	14: 52,452,776 (GRCm39)	I1248V	probably damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Ckap4	A	T	10: 84,364,148 (GRCm39)	V305E	probably damaging	Het
Clasrp	C	A	7: 19,319,198 (GRCm39)	R489L	unknown	Het
Col24a1	A	G	3: 145,004,599 (GRCm39)	I26V	probably benign	Het
Cort	C	T	4: 149,209,861 (GRCm39)	A64T	possibly damaging	Het
Dmkn	T	A	7: 30,464,793 (GRCm39)	N255K	unknown	Het
Dph2	A	T	4: 117,748,566 (GRCm39)	L69Q	probably damaging	Het
Fbxo11	A	G	17: 88,310,282 (GRCm39)	I432T		Het
Fgd3	T	C	13: 49,421,785 (GRCm39)	K531R	possibly damaging	Het
Fgd5	A	G	6: 91,964,099 (GRCm39)	K111E	probably benign	Het
Gdf6	T	A	4: 9,859,537 (GRCm39)	D206E	probably benign	Het
Gtpbp1	T	A	15: 79,600,354 (GRCm39)	L429Q	probably damaging	Het
Hk2	A	G	6: 82,726,276 (GRCm39)	F90S	probably damaging	Het
Hrnr	A	T	3: 93,239,098 (GRCm39)	Q3112L	unknown	Het
Hsd17b4	A	C	18: 50,297,917 (GRCm39)	K402T	probably benign	Het
Htr1f	T	C	16: 64,747,206 (GRCm39)	T29A	probably benign	Het
Ikbkb	C	A	8: 23,159,066 (GRCm39)	A471S	probably benign	Het
Inpp5f	A	G	7: 128,296,310 (GRCm39)	D887G	probably damaging	Het
Ipo9	A	G	1: 135,316,411 (GRCm39)	L805P	probably damaging	Het
Jmjd1c	A	T	10: 67,025,537 (GRCm39)	N118I	probably benign	Het
Kif26b	T	G	1: 178,358,275 (GRCm39)	C129G	probably damaging	Het
Mga	G	A	2: 119,790,821 (GRCm39)	A2236T	probably damaging	Het
Micu2	T	C	14: 58,154,810 (GRCm39)	Q405R	possibly damaging	Het
Myo1e	T	A	9: 70,204,577 (GRCm39)	V59D	probably damaging	Het
Nav3	A	G	10: 109,552,532 (GRCm39)	I1770T	probably damaging	Het
Ndufa10	A	T	1: 92,392,183 (GRCm39)	I190N	probably damaging	Het
Niban3	A	C	8: 72,056,470 (GRCm39)	E390A	possibly damaging	Het
Npat	T	A	9: 53,474,078 (GRCm39)	H623Q	probably benign	Het
Npc1l1	T	C	11: 6,167,777 (GRCm39)	T1005A	probably benign	Het
Or10ag58	A	G	2: 87,265,721 (GRCm39)	S297G	possibly damaging	Het
Or14c39	A	T	7: 86,343,960 (GRCm39)	I99F	probably damaging	Het
Or1e22	A	G	11: 73,376,715 (GRCm39)	*312Q	probably null	Het
Or2b4	A	G	17: 38,116,972 (GRCm39)	K312R	probably benign	Het
Or2w3	T	C	11: 58,557,011 (GRCm39)	S209P	possibly damaging	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Or8s8	C	G	15: 98,354,578 (GRCm39)	P129R	probably damaging	Het
Pafah1b2	C	T	9: 45,880,147 (GRCm39)	G177R	probably benign	Het
Phc1	A	G	6: 122,300,317 (GRCm39)	S521P	unknown	Het
Plpp2	A	T	10: 79,366,841 (GRCm39)	L25Q	probably null	Het
Plxna4	A	G	6: 32,129,734 (GRCm39)		probably null	Het
Ppl	G	T	16: 4,915,835 (GRCm39)	P576Q	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Rbfox1	G	A	16: 6,887,899 (GRCm39)	G13S	probably benign	Het
Rhot1	C	G	11: 80,114,760 (GRCm39)	P56R	probably damaging	Het
Sipa1l2	A	G	8: 126,174,385 (GRCm39)	W1298R	probably damaging	Het
Slc16a14	G	A	1: 84,890,292 (GRCm39)	H338Y	probably damaging	Het
Slc8a3	T	G	12: 81,362,579 (GRCm39)	Y80S	probably damaging	Het
Slco6c1	A	T	1: 97,003,608 (GRCm39)	Y513*	probably null	Het
Smarcd2	A	G	11: 106,155,602 (GRCm39)	C405R	probably damaging	Het
Szt2	G	A	4: 118,222,411 (GRCm39)	R3198*	probably null	Het
Tmeff1	T	A	4: 48,636,841 (GRCm39)	C180S	probably damaging	Het
Tmem132a	A	T	19: 10,844,358 (GRCm39)	M80K	probably benign	Het
Tnfsf12	A	G	11: 69,577,892 (GRCm39)	V175A	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Togaram2	A	T	17: 72,007,512 (GRCm39)	I354F	probably damaging	Het
Uchl5	T	A	1: 143,659,753 (GRCm39)	S42R	probably benign	Het
Virma	C	A	4: 11,514,026 (GRCm39)	L627I	probably damaging	Het
Vmn2r12	A	T	5: 109,240,684 (GRCm39)	I143K	probably benign	Het
Vmn2r95	T	G	17: 18,660,734 (GRCm39)	V382G	probably benign	Het
Wipf3	G	T	6: 54,462,263 (GRCm39)	A158S	probably benign	Het
Ylpm1	T	G	12: 85,091,242 (GRCm39)	S1809A	possibly damaging	Het
Zdhhc5	A	T	2: 84,524,748 (GRCm39)	C191S	probably benign	Het
Zer1	G	A	2: 30,001,253 (GRCm39)	R84C	probably damaging	Het
Zfhx2	A	T	14: 55,305,710 (GRCm39)	V991D	probably benign	Het
Zscan4b	C	A	7: 10,637,960 (GRCm39)	M61I	possibly damaging	Het
Zswim2	A	T	2: 83,745,672 (GRCm39)	S589T	possibly 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
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
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'- TCTTGATCTTGCTGAGTTCTTAAAG -3'
(R):5'- TTGGAGAAACCCAGCCCATAG -3'

Sequencing Primer
(F):5'- ATCTTGCTGAGTTCTTAAAGTTTGG -3'
(R):5'- GTGTTGCCAAAATAAAAGGAACCC -3'

Posted On

2019-09-13