Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Bckdha'

203463

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

039835-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R1806 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

25329371-25358178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25330845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 307 (V307A)

Ref Sequence

ENSEMBL: ENSMUSP00000071292 (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: V307A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376
AA Change: V307A

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: V57A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206824

Predicted Effect

probably benign
Transcript: ENSMUST00000206940

Meta Mutation Damage Score

0.8601

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,571 (GRCm39)	L348P	probably damaging	Het
Adamts15	C	A	9: 30,816,111 (GRCm39)	C616F	probably damaging	Het
Adarb1	T	C	10: 77,158,099 (GRCm39)	N116S	probably damaging	Het
Add2	C	T	6: 86,095,639 (GRCm39)	S437L	probably damaging	Het
Adra1d	T	A	2: 131,388,069 (GRCm39)	R495S	probably benign	Het
Agk	C	T	6: 40,364,429 (GRCm39)	T309I	probably damaging	Het
Aqr	T	C	2: 113,992,133 (GRCm39)	Y81C	probably damaging	Het
Bak1	G	A	17: 27,240,242 (GRCm39)	Q142*	probably null	Het
Camk2n2	C	A	16: 20,438,948 (GRCm39)	G72V	probably benign	Het
Cd276	A	T	9: 58,434,845 (GRCm39)		probably benign	Het
Cd2ap	G	A	17: 43,149,649 (GRCm39)	Q122*	probably null	Het
Cdan1	T	A	2: 120,561,907 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,263,547 (GRCm39)	S156P	probably benign	Het
Chil4	T	A	3: 106,117,959 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Fcrlb	T	C	1: 170,735,096 (GRCm39)	T344A	probably benign	Het
Fras1	T	A	5: 96,861,829 (GRCm39)		probably benign	Het
Fras1	G	T	5: 96,912,835 (GRCm39)	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,767,119 (GRCm39)	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135 (GRCm39)	S416R	probably benign	Het
Gm10549	T	A	18: 33,603,841 (GRCm39)	V108E	unknown	Het
Hook3	A	T	8: 26,558,687 (GRCm39)	L59Q	probably damaging	Het
Hpf1	T	A	8: 61,353,154 (GRCm39)	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,788,698 (GRCm39)	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,553,454 (GRCm39)	F236L	probably damaging	Het
Kcnk12	G	T	17: 88,053,537 (GRCm39)	T375K	probably benign	Het
Klra3	A	T	6: 130,304,033 (GRCm39)	S220T	probably damaging	Het
Lhx1	A	T	11: 84,414,967 (GRCm39)	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,766,710 (GRCm39)	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,803,970 (GRCm39)	C827*	probably null	Het
Mical1	C	T	10: 41,354,210 (GRCm39)	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,502 (GRCm39)	H326L	probably benign	Het
Mpl	A	T	4: 118,300,729 (GRCm39)	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,419,230 (GRCm39)	D4004E	possibly damaging	Het
Myo5b	A	T	18: 74,710,680 (GRCm39)	H98L	possibly damaging	Het
Nbeal1	A	G	1: 60,323,251 (GRCm39)	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,345,862 (GRCm39)	R825S	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or4k35	A	T	2: 111,100,622 (GRCm39)	I30N	possibly damaging	Het
Or52e19	T	A	7: 102,959,432 (GRCm39)	L168Q	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Otog	A	T	7: 45,940,361 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,056,836 (GRCm39)	L320H	probably damaging	Het
Poglut3	T	C	9: 53,307,150 (GRCm39)	Y365H	probably damaging	Het
Pola2	C	T	19: 5,993,250 (GRCm39)		probably null	Het
Poln	A	T	5: 34,264,494 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,131,680 (GRCm39)	V123E	probably damaging	Het
Prom2	T	C	2: 127,374,802 (GRCm39)	Y578C	probably damaging	Het
Prss23	T	C	7: 89,159,599 (GRCm39)	T157A	probably damaging	Het
Sdk1	T	A	5: 141,598,950 (GRCm39)	V205E	probably damaging	Het
Sdk1	A	G	5: 142,147,681 (GRCm39)	K1771R	probably benign	Het
Sidt1	A	T	16: 44,102,234 (GRCm39)	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,457,432 (GRCm39)	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,955,916 (GRCm39)	N374S	probably damaging	Het
Sp110	C	T	1: 85,523,831 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,509,934 (GRCm39)		probably null	Het
Synpr	A	G	14: 13,563,082 (GRCm38)	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,046,927 (GRCm39)	Y440C	probably damaging	Het
Trabd	A	G	15: 88,969,824 (GRCm39)	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,046,610 (GRCm39)	R430G	probably damaging	Het
Trim50	A	G	5: 135,387,743 (GRCm39)	E145G	probably benign	Het
Uba2	A	T	7: 33,862,624 (GRCm39)	F105I	probably damaging	Het
Uba3	A	G	6: 97,176,230 (GRCm39)	V92A	possibly damaging	Het
Uhmk1	T	C	1: 170,038,628 (GRCm39)	K153R	probably damaging	Het
Vmn2r3	T	C	3: 64,194,810 (GRCm39)	K8R	possibly damaging	Het
Vmn2r3	T	A	3: 64,182,893 (GRCm39)	M269L	probably benign	Het
Xpot	G	T	10: 121,443,543 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620 (GRCm39)	H715L	possibly damaging	Het
Zmym1	A	C	4: 126,941,872 (GRCm39)	L839V	probably damaging	Het

Other mutations in Bckdha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Bckdha	APN	7	25,332,767 (GRCm39)	missense	probably benign	0.00
IGL01322:Bckdha	APN	7	25,358,132 (GRCm39)	missense	possibly damaging	0.75
IGL02279:Bckdha	APN	7	25,330,534 (GRCm39)	missense	probably damaging	1.00
R0071:Bckdha	UTSW	7	25,329,868 (GRCm39)	splice site	probably null
R0071:Bckdha	UTSW	7	25,329,868 (GRCm39)	splice site	probably null
R0194:Bckdha	UTSW	7	25,330,875 (GRCm39)	missense	probably damaging	1.00
R0615:Bckdha	UTSW	7	25,341,210 (GRCm39)	missense	probably benign	0.00
R2520:Bckdha	UTSW	7	25,341,124 (GRCm39)	missense	probably benign	0.18
R3847:Bckdha	UTSW	7	25,331,077 (GRCm39)	missense	probably damaging	1.00
R3975:Bckdha	UTSW	7	25,330,858 (GRCm39)	missense	probably damaging	1.00
R4630:Bckdha	UTSW	7	25,330,884 (GRCm39)	missense	probably damaging	1.00
R5655:Bckdha	UTSW	7	25,329,789 (GRCm39)	missense	probably damaging	1.00
R6030:Bckdha	UTSW	7	25,330,866 (GRCm39)	missense	probably damaging	1.00
R6030:Bckdha	UTSW	7	25,330,866 (GRCm39)	missense	probably damaging	1.00
R7961:Bckdha	UTSW	7	25,330,903 (GRCm39)	missense	probably damaging	1.00
R8202:Bckdha	UTSW	7	25,329,738 (GRCm39)	missense	probably damaging	1.00
R8344:Bckdha	UTSW	7	25,330,872 (GRCm39)	missense	probably damaging	1.00
R8932:Bckdha	UTSW	7	25,330,436 (GRCm39)	missense	probably damaging	0.99
R9089:Bckdha	UTSW	7	25,341,144 (GRCm39)	missense	probably benign	0.03
R9782:Bckdha	UTSW	7	25,340,880 (GRCm39)	critical splice donor site	probably null
Z1176:Bckdha	UTSW	7	25,330,568 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-06-23