Mutagenetix > Incidental Mutation

Incidental Mutation 'R4740:Dbt'

359592

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

041965-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116306776-116343630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116332781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 200 (I200T)

Ref Sequence

ENSEMBL: ENSMUSP00000000349 (fasta)

Gene Model

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

AlphaFold

P53395

Predicted Effect

probably damaging
Transcript: ENSMUST00000000349
AA Change: I200T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: I200T

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

noncoding transcript
Transcript: ENSMUST00000196376

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197201
AA Change: I19T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000199614

Meta Mutation Damage Score

0.7408

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (95/95)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	C	T	16: 21,513,146 (GRCm39)	A4T	probably benign	Het
Aacs	T	C	5: 125,583,316 (GRCm39)	S291P	probably damaging	Het
Abcb1a	T	C	5: 8,752,280 (GRCm39)		probably null	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Baiap2l2	T	A	15: 79,143,951 (GRCm39)	Y381F	probably benign	Het
Chd6	A	T	2: 160,812,103 (GRCm39)	D1363E	probably benign	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cir1	T	C	2: 73,142,867 (GRCm39)		probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Clec4d	T	A	6: 123,245,072 (GRCm39)	H117Q	probably damaging	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Coro6	A	G	11: 77,360,025 (GRCm39)	E362G	possibly damaging	Het
Ctr9	T	A	7: 110,634,578 (GRCm39)	C196S	probably benign	Het
Cyp2c55	A	G	19: 39,007,173 (GRCm39)	K190E	probably benign	Het
Dnah11	A	G	12: 118,084,279 (GRCm39)	F1242L	probably benign	Het
Dnah2	A	G	11: 69,348,868 (GRCm39)	W2534R	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Eml4	T	G	17: 83,717,459 (GRCm39)	D10E	probably damaging	Het
Enpp1	A	T	10: 24,555,146 (GRCm39)	C67S	probably null	Het
Epn1	A	G	7: 5,093,012 (GRCm39)	D108G	probably damaging	Het
Eps15	A	G	4: 109,200,387 (GRCm39)	Y2C	probably damaging	Het
Fam135b	C	T	15: 71,335,920 (GRCm39)	V425I	probably benign	Het
Frem2	G	A	3: 53,443,240 (GRCm39)	A2508V	probably benign	Het
Fzd3	T	A	14: 65,473,193 (GRCm39)	M192L	possibly damaging	Het
Gls	C	T	1: 52,271,947 (GRCm39)	A69T	probably damaging	Het
Gm10051	T	A	5: 133,504,113 (GRCm39)		noncoding transcript	Het
Gm9271	A	G	7: 39,013,346 (GRCm39)		noncoding transcript	Het
Gramd1b	T	C	9: 40,227,128 (GRCm39)		probably null	Het
Gvin-ps6	G	A	7: 106,022,782 (GRCm39)		noncoding transcript	Het
H2-T23	A	T	17: 36,343,016 (GRCm39)		probably benign	Het
H2-T5	T	A	17: 36,478,448 (GRCm39)	I195F	probably damaging	Het
Hmbox1	G	A	14: 65,134,483 (GRCm39)	T39I	probably damaging	Het
Hmx1	A	G	5: 35,549,115 (GRCm39)	E136G	probably damaging	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	G	8: 111,173,071 (GRCm39)	N918S	probably benign	Het
Igkv5-37	T	A	6: 69,940,306 (GRCm39)	S113C	probably damaging	Het
Il36rn	T	C	2: 24,167,503 (GRCm39)		probably benign	Het
Mab21l4	A	C	1: 93,083,890 (GRCm39)	M189R	probably benign	Het
Marco	G	T	1: 120,422,499 (GRCm39)	T61K	probably damaging	Het
Med1	T	A	11: 98,071,090 (GRCm39)	R86*	probably null	Het
Mertk	A	G	2: 128,593,914 (GRCm39)	Y306C	probably damaging	Het
Mgat4c	T	C	10: 102,224,265 (GRCm39)	F160L	probably damaging	Het
Midn	A	T	10: 79,987,238 (GRCm39)	E88V	probably null	Het
Muc4	G	A	16: 32,596,277 (GRCm39)	R3163H	possibly damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nhlrc4	T	C	17: 26,162,577 (GRCm39)	T57A	probably benign	Het
Nlrp1a	T	C	11: 71,004,466 (GRCm39)		probably null	Het
Npffr2	A	T	5: 89,730,879 (GRCm39)	K270*	probably null	Het
Or10a3	T	G	7: 108,480,689 (GRCm39)	E41D	probably benign	Het
Or2b6	T	A	13: 21,823,340 (GRCm39)	M118L	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or8g26	T	A	9: 39,095,664 (GRCm39)	Y60*	probably null	Het
Or8k40	C	T	2: 86,584,155 (GRCm39)	C309Y	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pabpc4l	C	G	3: 46,400,570 (GRCm39)	G358A	possibly damaging	Het
Pabpc4l	C	T	3: 46,400,579 (GRCm39)	R355H	probably benign	Het
Parp1	T	C	1: 180,417,033 (GRCm39)	S606P	probably damaging	Het
Pkhd1	A	G	1: 20,594,354 (GRCm39)	V1253A	probably benign	Het
Psg29	G	A	7: 16,942,458 (GRCm39)	R153H	probably benign	Het
Rbm25	A	G	12: 83,691,181 (GRCm39)	M58V	possibly damaging	Het
Rbm28	T	C	6: 29,125,353 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,671,933 (GRCm39)	S3436P	possibly damaging	Het
Slc3a1	A	G	17: 85,354,181 (GRCm39)	I335V	probably benign	Het
Slc4a4	T	C	5: 89,373,753 (GRCm39)	F953S	probably damaging	Het
Spata20	A	G	11: 94,375,404 (GRCm39)	I130T	possibly damaging	Het
Spata31h1	T	C	10: 82,119,481 (GRCm39)	T4510A	possibly damaging	Het
Srcap	T	C	7: 127,148,471 (GRCm39)	S1879P	probably damaging	Het
St18	G	C	1: 6,887,828 (GRCm39)	V466L	probably benign	Het
Stard3nl	A	T	13: 19,551,948 (GRCm39)	M166K	probably benign	Het
Stard3nl	G	A	13: 19,560,736 (GRCm39)	T13M	probably damaging	Het
Stil	A	G	4: 114,863,979 (GRCm39)	T74A	probably benign	Het
Syt6	T	G	3: 103,532,972 (GRCm39)	M367R	probably damaging	Het
Tacc1	T	C	8: 25,672,581 (GRCm39)	T125A	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tcaf1	A	G	6: 42,663,809 (GRCm39)	S24P	probably benign	Het
Trim75	T	G	8: 65,435,199 (GRCm39)	Y417S	probably damaging	Het
Ttll12	T	C	15: 83,464,321 (GRCm39)	Y503C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Zfp593	T	C	4: 133,972,077 (GRCm39)		probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	probably damaging	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
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
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'- TCCTCAAACAAAGTTACTGGGG -3'
(R):5'- TGCTGTTACCTGTCACTGGC -3'

Sequencing Primer
(F):5'- TGGCCTGGAACTCAGCCATC -3'
(R):5'- GTCACTGGCTCTGTTCGGTC -3'

Posted On

2015-11-11