Mutagenetix > Incidental Mutations

Incidental Mutation 'R6030:Bckdha'

486193

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

044202-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25629946-25658981 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25631441 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 50 (D50V)

Ref Sequence

ENSEMBL: ENSMUSP00000146018 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071329
AA Change: D300V

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

SMART Domains

Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376
AA Change: D300V

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: D50V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206824

Predicted Effect

probably benign
Transcript: ENSMUST00000206940

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,255,733	W59R	probably damaging	Het
Abca16	A	G	7: 120,533,798	N1317D	probably benign	Het
Abhd8	T	A	8: 71,458,150	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,516,364	N297K	probably damaging	Het
Agap1	A	G	1: 89,630,434	D148G	probably damaging	Het
Alox12	T	C	11: 70,254,591	D52G	possibly damaging	Het
Ano5	T	A	7: 51,574,825	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,117,905		probably null	Het
Atp4a	G	C	7: 30,722,516	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,602,911	D256G	probably damaging	Het
Cast	A	G	13: 74,695,937	S693P	possibly damaging	Het
Col6a1	T	C	10: 76,709,866	Y924C	unknown	Het
Crkl	A	G	16: 17,452,740	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,919,621	F32L	probably benign	Het
Dmxl2	C	T	9: 54,393,673	V2385I	probably benign	Het
Dnah1	T	A	14: 31,268,027	I3219F	probably damaging	Het
Dnah17	C	T	11: 118,025,549	R4266H	probably benign	Het
Efcab5	A	G	11: 77,121,262	L722P	probably damaging	Het
Emilin3	C	A	2: 160,909,185	V215L	probably benign	Het
Esr1	A	T	10: 4,746,622	N157I	possibly damaging	Het
Esrrg	A	G	1: 188,198,707	M309V	probably benign	Het
Fam120b	G	A	17: 15,401,910	R50Q	probably damaging	Het
Fat2	G	T	11: 55,310,303	Y648*	probably null	Het
Gbp2b	T	A	3: 142,603,653	I175N	probably benign	Het
Gm1043	T	A	5: 37,154,608		probably benign	Het
Gm21060	A	G	19: 61,296,973	C33R	possibly damaging	Het
Gm9803	C	T	10: 43,524,256	A30V	probably benign	Het
Gpx6	C	T	13: 21,312,340	S28L	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ifi44	T	C	3: 151,749,558	Q10R	probably benign	Het
Impa2	T	C	18: 67,318,428	V264A	probably benign	Het
Khdc1a	A	T	1: 21,350,884	M98L	probably benign	Het
Lrrc45	T	A	11: 120,720,648	L616*	probably null	Het
Mios	A	T	6: 8,215,704	H300L	probably benign	Het
Mllt6	A	T	11: 97,677,225	T827S	probably damaging	Het
Mrc1	C	A	2: 14,316,901	D1068E	probably benign	Het
Ndst3	T	C	3: 123,552,519	Y702C	probably damaging	Het
Nek11	T	A	9: 105,204,888		probably null	Het
Nek4	T	C	14: 30,956,933	F138S	probably damaging	Het
Nfatc4	T	A	14: 55,832,440	Y688*	probably null	Het
Nlrx1	C	T	9: 44,263,760	V240M	probably damaging	Het
Npy6r	A	T	18: 44,276,082	Y190F	probably benign	Het
Olfr338	T	G	2: 36,377,544	L256R	probably damaging	Het
Olfr472	A	G	7: 107,903,413	E232G	probably benign	Het
Olfr509	A	C	7: 108,646,226	S117A	possibly damaging	Het
Olfr548-ps1	C	A	7: 102,542,610	R225S	probably benign	Het
Olfr780	A	T	10: 129,322,369	T249S	probably benign	Het
Olfr960	T	C	9: 39,623,341	F71L	probably damaging	Het
Osbpl7	A	C	11: 97,052,261	H113P	probably benign	Het
Pck1	A	G	2: 173,154,857	E188G	probably benign	Het
Pimreg	A	G	11: 72,045,750	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,043,237	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,307,934	Q622*	probably null	Het
Ppfia2	T	A	10: 106,906,477	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,058,400	V280A	probably damaging	Het
Ptprf	T	C	4: 118,211,048	N1764D	probably benign	Het
Pygm	C	T	19: 6,388,812	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,698,561	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Homo
Sdccag3	T	C	2: 26,386,971	D249G	possibly damaging	Het
Setbp1	T	G	18: 78,857,711	I914L	probably benign	Het
Shprh	A	C	10: 11,151,991	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,885,528	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,519,920		probably null	Het
Spin1	T	A	13: 51,139,516	Y87*	probably null	Het
Srebf2	T	C	15: 82,177,276		probably null	Het
Sufu	T	C	19: 46,475,539	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,063,850	V242G	probably benign	Het
Tgm3	A	T	2: 130,042,000	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,968	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799	D454G	probably benign	Het
Ttn	T	C	2: 76,816,599	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,071,406	G200R	probably damaging	Het
Umps	A	G	16: 33,962,138	V138A	probably benign	Het
Wdr66	C	T	5: 123,274,204	T532M	probably damaging	Het
Ypel1	A	G	16: 17,084,513		probably null	Het
Zdhhc19	T	A	16: 32,499,042	L63Q	probably null	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
R3975:Bckdha	UTSW	7	25631433	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

Predicted Primers

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

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

Posted On

2017-08-16