Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Dbt'

41048

Institutional Source

Beutler Lab

Gene Symbol

Dbt

Ensembl Gene

ENSMUSG00000000340

Gene Name

dihydrolipoamide branched chain transacylase E2

Synonyms

dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, D3Wsu60e, dihydrolipoyl transacylase, BCKAD E2

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116306776-116343630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116337478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 334 (Q334R)

Ref Sequence

ENSEMBL: ENSMUSP00000000349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000349] [ENSMUST00000197201] [ENSMUST00000199614]

AlphaFold

P53395

Predicted Effect

probably benign
Transcript: ENSMUST00000000349
AA Change: Q334R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: Q334R

Domain	Start	End	E-Value	Type
Pfam:Biotin_lipoyl	65	138	2.8e-22	PFAM
Pfam:E3_binding	171	206	4.4e-18	PFAM
low complexity region	218	232	N/A	INTRINSIC
Pfam:2-oxoacid_dh	248	479	8.5e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197201

Predicted Effect

probably benign
Transcript: ENSMUST00000199614

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

100% (107/107)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in postnatal lethality, pallor, respiratory distress, and an increase in branched-chain amino acids in the blood and urine. Homozygotes model Maple Syrup Urine Disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
5530400C23Rik	A	T	6: 133,269,287 (GRCm39)		probably benign	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Arap3	A	T	18: 38,129,760 (GRCm39)	S134T	probably benign	Het
Arsa	T	A	15: 89,358,539 (GRCm39)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bpifb9a	A	T	2: 154,108,761 (GRCm39)	N421Y	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col24a1	G	A	3: 145,250,899 (GRCm39)	A1633T	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnah10	A	T	5: 124,840,140 (GRCm39)	D1315V	probably benign	Het
Dnah11	A	G	12: 118,090,621 (GRCm39)	F1080S	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l1	A	C	9: 24,325,705 (GRCm39)	M700R	possibly damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm43302	T	A	5: 105,438,766 (GRCm39)	I41F	probably damaging	Het
Gm5698	C	T	1: 31,016,614 (GRCm39)	V146I	probably benign	Het
Gpatch1	G	A	7: 34,986,652 (GRCm39)	S768L	probably damaging	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,112,560 (GRCm39)	E222G	probably damaging	Het
Il4ra	C	T	7: 125,175,403 (GRCm39)	P537L	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcnh4	T	C	11: 100,648,626 (GRCm39)	H26R	probably benign	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Khdrbs3	T	A	15: 68,866,886 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,820,677 (GRCm39)	D840G	probably damaging	Het
Neb	T	A	2: 52,196,542 (GRCm39)	D553V	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Npr2	G	T	4: 43,632,329 (GRCm39)	V49L	probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Oas3	T	A	5: 120,896,940 (GRCm39)	I894F	probably damaging	Het
Oprd1	A	G	4: 131,841,299 (GRCm39)	F220L	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Or2aj4	T	A	16: 19,384,799 (GRCm39)	Y278F	probably damaging	Het
Or2r2	A	T	6: 42,463,869 (GRCm39)	M86K	probably benign	Het
Or8b57	T	C	9: 40,003,983 (GRCm39)	N93S	possibly damaging	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plcxd1	T	A	5: 110,249,368 (GRCm39)	V65E	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Rabepk	T	C	2: 34,685,318 (GRCm39)	D26G	possibly damaging	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,732,326 (GRCm39)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spink14	T	C	18: 44,161,830 (GRCm39)	V2A	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tmco6	A	G	18: 36,875,160 (GRCm39)	T477A	probably benign	Het
Tmem208	C	T	8: 106,054,857 (GRCm39)	A53V	probably benign	Het
Tpp2	A	G	1: 44,020,908 (GRCm39)	T837A	possibly damaging	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Usp7	A	T	16: 8,509,282 (GRCm39)	H1017Q	probably benign	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r63	T	C	7: 42,576,514 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vmn2r85	T	C	10: 130,261,770 (GRCm39)	D189G	probably damaging	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Wnk4	A	T	11: 101,156,261 (GRCm39)	D43V	probably damaging	Het
Xab2	A	T	8: 3,663,880 (GRCm39)	N346K	probably damaging	Het
Xirp2	T	C	2: 67,342,484 (GRCm39)	V1575A	possibly damaging	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	probably benign	Het
Zfp458	G	A	13: 67,407,673 (GRCm39)	Q58*	probably null	Het
Zfp747	A	T	7: 126,973,772 (GRCm39)	S133T	probably benign	Het

Other mutations in Dbt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Dbt	APN	3	116,332,930 (GRCm39)	missense	probably benign
IGL00660:Dbt	APN	3	116,339,944 (GRCm39)	missense	probably damaging	1.00
IGL00839:Dbt	APN	3	116,339,763 (GRCm39)	missense	probably benign	0.21
IGL00840:Dbt	APN	3	116,339,763 (GRCm39)	missense	probably benign	0.21
IGL00841:Dbt	APN	3	116,339,763 (GRCm39)	missense	probably benign	0.21
IGL00852:Dbt	APN	3	116,339,763 (GRCm39)	missense	probably benign	0.21
IGL00861:Dbt	APN	3	116,339,763 (GRCm39)	missense	probably benign	0.21
IGL00955:Dbt	APN	3	116,339,763 (GRCm39)	missense	probably benign	0.21
IGL00956:Dbt	APN	3	116,339,763 (GRCm39)	missense	probably benign	0.21
IGL01475:Dbt	APN	3	116,313,908 (GRCm39)	missense	possibly damaging	0.92
IGL01521:Dbt	APN	3	116,327,032 (GRCm39)	missense	probably benign	0.00
IGL01806:Dbt	APN	3	116,326,954 (GRCm39)	missense	probably damaging	1.00
IGL03288:Dbt	APN	3	116,341,847 (GRCm39)	makesense	probably null
R0025:Dbt	UTSW	3	116,328,432 (GRCm39)	missense	probably benign	0.22
R0066:Dbt	UTSW	3	116,337,478 (GRCm39)	missense	probably benign	0.00
R0190:Dbt	UTSW	3	116,332,736 (GRCm39)	critical splice acceptor site	probably null
R1650:Dbt	UTSW	3	116,328,381 (GRCm39)	splice site	probably null
R1750:Dbt	UTSW	3	116,339,943 (GRCm39)	missense	probably benign	0.18
R2130:Dbt	UTSW	3	116,332,773 (GRCm39)	missense	probably damaging	1.00
R2131:Dbt	UTSW	3	116,332,773 (GRCm39)	missense	probably damaging	1.00
R2133:Dbt	UTSW	3	116,332,773 (GRCm39)	missense	probably damaging	1.00
R2897:Dbt	UTSW	3	116,317,061 (GRCm39)	missense	probably damaging	1.00
R3442:Dbt	UTSW	3	116,341,840 (GRCm39)	missense	probably benign
R4241:Dbt	UTSW	3	116,326,945 (GRCm39)	missense	probably damaging	1.00
R4681:Dbt	UTSW	3	116,326,963 (GRCm39)	missense	probably damaging	1.00
R4724:Dbt	UTSW	3	116,326,945 (GRCm39)	missense	probably damaging	1.00
R4736:Dbt	UTSW	3	116,332,781 (GRCm39)	missense	probably damaging	0.99
R4737:Dbt	UTSW	3	116,332,781 (GRCm39)	missense	probably damaging	0.99
R4738:Dbt	UTSW	3	116,332,781 (GRCm39)	missense	probably damaging	0.99
R4740:Dbt	UTSW	3	116,332,781 (GRCm39)	missense	probably damaging	0.99
R4809:Dbt	UTSW	3	116,339,992 (GRCm39)	missense	probably damaging	1.00
R4823:Dbt	UTSW	3	116,317,036 (GRCm39)	missense	probably damaging	1.00
R4861:Dbt	UTSW	3	116,341,727 (GRCm39)	missense	probably benign	0.00
R4861:Dbt	UTSW	3	116,341,727 (GRCm39)	missense	probably benign	0.00
R5148:Dbt	UTSW	3	116,321,893 (GRCm39)	intron	probably benign
R5327:Dbt	UTSW	3	116,322,220 (GRCm39)	intron	probably benign
R5700:Dbt	UTSW	3	116,313,952 (GRCm39)	missense	probably damaging	0.97
R5931:Dbt	UTSW	3	116,317,074 (GRCm39)	missense	possibly damaging	0.80
R6463:Dbt	UTSW	3	116,333,409 (GRCm39)	missense	possibly damaging	0.51
R7841:Dbt	UTSW	3	116,339,746 (GRCm39)	missense	possibly damaging	0.85
R8122:Dbt	UTSW	3	116,313,891 (GRCm39)	nonsense	probably null
R8385:Dbt	UTSW	3	116,317,039 (GRCm39)	missense	probably damaging	1.00
R8941:Dbt	UTSW	3	116,339,698 (GRCm39)	missense	probably damaging	0.99
R9734:Dbt	UTSW	3	116,339,704 (GRCm39)	missense	probably benign
RF008:Dbt	UTSW	3	116,341,717 (GRCm39)	nonsense	probably null
RF016:Dbt	UTSW	3	116,333,363 (GRCm39)	missense	probably damaging	1.00
Z1177:Dbt	UTSW	3	116,339,740 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGGCATCCTAGCTTCACCTTGG -3'
(R):5'- TTTGAAGGGGACACTGCACAGC -3'

Sequencing Primer
(F):5'- AGCTTCACCTTGGTTAGAGATCC -3'
(R):5'- AGCCAACAGACTGAAGCCTAAG -3'

Posted On

2013-05-23