Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25329371-25358178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25330866 bp (GRCm39)

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]

AlphaFold

no structure available at present

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
Abca16	A	G	7: 120,133,021 (GRCm39)	N1317D	probably benign	Het
Abhd8	T	A	8: 71,910,794 (GRCm39)	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,493,346 (GRCm39)	N297K	probably damaging	Het
Agap1	A	G	1: 89,558,156 (GRCm39)	D148G	probably damaging	Het
Alox12	T	C	11: 70,145,417 (GRCm39)	D52G	possibly damaging	Het
Ano5	T	A	7: 51,224,573 (GRCm39)	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,255,968 (GRCm39)		probably null	Het
Atp4a	G	C	7: 30,421,941 (GRCm39)	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,657,060 (GRCm39)	D256G	probably damaging	Het
Cast	A	G	13: 74,844,056 (GRCm39)	S693P	possibly damaging	Het
Cfap251	C	T	5: 123,412,267 (GRCm39)	T532M	probably damaging	Het
Col6a1	T	C	10: 76,545,700 (GRCm39)	Y924C	unknown	Het
Crkl	A	G	16: 17,270,604 (GRCm39)	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,761,541 (GRCm39)	F32L	probably benign	Het
Dmxl2	C	T	9: 54,300,957 (GRCm39)	V2385I	probably benign	Het
Dnah1	T	A	14: 30,989,984 (GRCm39)	I3219F	probably damaging	Het
Dnah17	C	T	11: 117,916,375 (GRCm39)	R4266H	probably benign	Het
Efcab5	A	G	11: 77,012,088 (GRCm39)	L722P	probably damaging	Het
Emilin3	C	A	2: 160,751,105 (GRCm39)	V215L	probably benign	Het
Entr1	T	C	2: 26,276,983 (GRCm39)	D249G	possibly damaging	Het
Esr1	A	T	10: 4,696,622 (GRCm39)	N157I	possibly damaging	Het
Esrrg	A	G	1: 187,930,904 (GRCm39)	M309V	probably benign	Het
Fam120b	G	A	17: 15,622,172 (GRCm39)	R50Q	probably damaging	Het
Fat2	G	T	11: 55,201,129 (GRCm39)	Y648*	probably null	Het
Gbp2b	T	A	3: 142,309,414 (GRCm39)	I175N	probably benign	Het
Gm1043	T	A	5: 37,311,952 (GRCm39)		probably benign	Het
Gm21060	A	G	19: 61,285,411 (GRCm39)	C33R	possibly damaging	Het
Gpx6	C	T	13: 21,496,510 (GRCm39)	S28L	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ifi44	T	C	3: 151,455,195 (GRCm39)	Q10R	probably benign	Het
Impa2	T	C	18: 67,451,498 (GRCm39)	V264A	probably benign	Het
Khdc1a	A	T	1: 21,421,108 (GRCm39)	M98L	probably benign	Het
Lrrc45	T	A	11: 120,611,474 (GRCm39)	L616*	probably null	Het
Mios	A	T	6: 8,215,704 (GRCm39)	H300L	probably benign	Het
Mllt6	A	T	11: 97,568,051 (GRCm39)	T827S	probably damaging	Het
Mrc1	C	A	2: 14,321,712 (GRCm39)	D1068E	probably benign	Het
Ndst3	T	C	3: 123,346,168 (GRCm39)	Y702C	probably damaging	Het
Nek11	T	A	9: 105,082,087 (GRCm39)		probably null	Het
Nek4	T	C	14: 30,678,890 (GRCm39)	F138S	probably damaging	Het
Nfatc4	T	A	14: 56,069,897 (GRCm39)	Y688*	probably null	Het
Nlrx1	C	T	9: 44,175,057 (GRCm39)	V240M	probably damaging	Het
Npy6r	A	T	18: 44,409,149 (GRCm39)	Y190F	probably benign	Het
Or10ab5	A	C	7: 108,245,433 (GRCm39)	S117A	possibly damaging	Het
Or10d4b	T	C	9: 39,534,637 (GRCm39)	F71L	probably damaging	Het
Or1j10	T	G	2: 36,267,556 (GRCm39)	L256R	probably damaging	Het
Or52b4i	C	A	7: 102,191,817 (GRCm39)	R225S	probably benign	Het
Or5p52	A	G	7: 107,502,620 (GRCm39)	E232G	probably benign	Het
Or6c68	A	T	10: 129,158,238 (GRCm39)	T249S	probably benign	Het
Osbpl7	A	C	11: 96,943,087 (GRCm39)	H113P	probably benign	Het
Pam16l	C	T	10: 43,400,252 (GRCm39)	A30V	probably benign	Het
Pck1	A	G	2: 172,996,650 (GRCm39)	E188G	probably benign	Het
Pimreg	A	G	11: 71,936,576 (GRCm39)	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,769,976 (GRCm39)	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,441,005 (GRCm39)	Q622*	probably null	Het
Ppfia2	T	A	10: 106,742,338 (GRCm39)	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,024,659 (GRCm39)	V280A	probably damaging	Het
Ptprf	T	C	4: 118,068,245 (GRCm39)	N1764D	probably benign	Het
Pygm	C	T	19: 6,438,842 (GRCm39)	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,626,299 (GRCm39)	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Setbp1	T	G	18: 78,900,926 (GRCm39)	I914L	probably benign	Het
Shprh	A	C	10: 11,027,735 (GRCm39)	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,742,725 (GRCm39)	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,657,985 (GRCm39)		probably null	Het
Spin1	T	A	13: 51,293,552 (GRCm39)	Y87*	probably null	Het
Spring1	T	C	5: 118,393,798 (GRCm39)	W59R	probably damaging	Het
Srebf2	T	C	15: 82,061,477 (GRCm39)		probably null	Het
Sufu	T	C	19: 46,463,978 (GRCm39)	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,110,624 (GRCm39)	V242G	probably benign	Het
Tgm3	A	T	2: 129,883,920 (GRCm39)	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,967 (GRCm39)	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799 (GRCm39)	D454G	probably benign	Het
Ttn	T	C	2: 76,646,943 (GRCm39)	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Umps	A	G	16: 33,782,508 (GRCm39)	V138A	probably benign	Het
Ypel1	A	G	16: 16,902,377 (GRCm39)		probably null	Het
Zdhhc19	T	A	16: 32,317,860 (GRCm39)	L63Q	probably null	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
R1806:Bckdha	UTSW	7	25,330,845 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGTAAGGGCCTTTCTCTTGC -3'

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

Posted On

2017-08-16