Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Bckdha'

312601

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

040939-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R3975 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

25629946-25658981 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25631433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 53 (D53Y)

Ref Sequence

ENSEMBL: ENSMUSP00000146018 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071329
AA Change: D303Y

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

SMART Domains

Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376
AA Change: D303Y

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: ENSMUST00000205281

Predicted Effect

probably damaging
Transcript: ENSMUST00000205808
AA Change: D53Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206824

Predicted Effect

probably benign
Transcript: ENSMUST00000206940

Meta Mutation Damage Score

0.9749

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,547,729	Y416*	probably null	Het
Akr1b10	G	T	6: 34,392,496		probably null	Het
Arap2	G	T	5: 62,748,894	P261T	possibly damaging	Het
Bfsp2	A	G	9: 103,480,072	V52A	probably benign	Het
Bola3	T	C	6: 83,351,267	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,278,173		probably null	Het
Ceacam16	C	A	7: 19,853,612	Q410H	probably damaging	Het
Cenpe	A	G	3: 135,235,225		probably null	Het
Cenpe	T	C	3: 135,238,472		probably null	Het
Clca1	A	T	3: 145,032,639	V36D	probably damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crb2	C	A	2: 37,793,668	P1061T	possibly damaging	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Cyp51	C	T	5: 4,091,877	G346S	probably damaging	Het
Dnah6	A	G	6: 73,121,992	S2027P	possibly damaging	Het
Fam129a	T	C	1: 151,649,335	Y164H	probably damaging	Het
Fbxo18	T	C	2: 11,767,210	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,944,834	V171D	probably damaging	Het
Gm9825	A	T	6: 7,983,149		noncoding transcript	Het
Golgb1	T	G	16: 36,918,571	V2424G	probably damaging	Het
Gpbp1l1	T	C	4: 116,570,985		probably null	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,003,747		probably null	Het
Lrba	T	C	3: 86,351,255	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,901,070	V157A	possibly damaging	Het
Nt5dc2	T	C	14: 31,138,875	S439P	probably damaging	Het
Olfr1090	T	A	2: 86,754,543	H65L	probably damaging	Het
Olfr134	A	G	17: 38,175,495	N137S	probably benign	Het
Olfr141	G	A	2: 86,806,460	P180S	possibly damaging	Het
Olfr693	T	C	7: 106,677,785	R234G	probably damaging	Het
Orm3	A	T	4: 63,356,158		probably null	Het
Otof	A	G	5: 30,370,712	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,015,015	C111F	probably damaging	Het
Plcl1	T	A	1: 55,698,215	M905K	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Rara	T	G	11: 98,970,569	I236S	probably damaging	Het
Reln	A	T	5: 21,995,366	S1379T	possibly damaging	Het
Rp1l1	T	A	14: 64,030,309	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,604,585	N135I	probably damaging	Het
Rps6	A	G	4: 86,856,813	V18A	probably benign	Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Sis	T	C	3: 72,943,635	T577A	probably damaging	Het
Slx1b	G	A	7: 126,691,807	L239F	probably damaging	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Smad6	A	G	9: 64,020,930	V32A	probably benign	Het
Smc6	T	A	12: 11,274,074	F73L	probably damaging	Het
Sorbs2	T	C	8: 45,772,710		probably null	Het
Svbp	T	A	4: 119,195,893	F32I	probably benign	Het
Tap1	C	A	17: 34,189,567		probably benign	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ttn	T	C	2: 76,876,653		probably benign	Het
Umodl1	C	A	17: 30,984,789	Y525*	probably null	Het
Vmn2r70	C	T	7: 85,559,332	V646I	probably benign	Het
Wipf1	C	T	2: 73,437,169	G295D	probably benign	Het
Wisp3	C	G	10: 39,155,098	C143S	probably damaging	Het
Zim1	A	T	7: 6,677,130	H511Q	probably damaging	Het

Other mutations in Bckdha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Bckdha	APN	7	25633342	missense	probably benign	0.00
IGL01322:Bckdha	APN	7	25658707	missense	possibly damaging	0.75
IGL02279:Bckdha	APN	7	25631109	missense	probably damaging	1.00
R0071:Bckdha	UTSW	7	25630443	splice site	probably null
R0071:Bckdha	UTSW	7	25630443	splice site	probably null
R0194:Bckdha	UTSW	7	25631450	missense	probably damaging	1.00
R0615:Bckdha	UTSW	7	25641785	missense	probably benign	0.00
R1806:Bckdha	UTSW	7	25631420	missense	probably damaging	1.00
R2520:Bckdha	UTSW	7	25641699	missense	probably benign	0.18
R3847:Bckdha	UTSW	7	25631652	missense	probably damaging	1.00
R4630:Bckdha	UTSW	7	25631459	missense	probably damaging	1.00
R5655:Bckdha	UTSW	7	25630364	missense	probably damaging	1.00
R6030:Bckdha	UTSW	7	25631441	missense	probably damaging	1.00
R6030:Bckdha	UTSW	7	25631441	missense	probably damaging	1.00
R7961:Bckdha	UTSW	7	25631478	missense	probably damaging	1.00
R8202:Bckdha	UTSW	7	25630313	missense	probably damaging	1.00
R8344:Bckdha	UTSW	7	25631447	missense	probably damaging	1.00
R8932:Bckdha	UTSW	7	25631011	missense	probably damaging	0.99
R9089:Bckdha	UTSW	7	25641719	missense	probably benign	0.03
R9782:Bckdha	UTSW	7	25641455	critical splice donor site	probably null
Z1176:Bckdha	UTSW	7	25631143	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGACCTCGTCCACCGAAC -3'
(R):5'- TCCCTGATGGTGTCTGACAG -3'

Sequencing Primer
(F):5'- TACGCTGAGCTGTCGTCACTG -3'
(R):5'- CCCTGATGGTGTCTGACAGTAAGG -3'

Posted On

2015-04-30