Mutagenetix > Incidental Mutation

Incidental Mutation 'R4738:Dbt'

359410

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

041964-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not 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: 98.4%
10x: 96.9%
20x: 94.3%

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 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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,121,849 (GRCm39)	I176T	probably benign	Het
Abtb3	C	T	10: 85,463,112 (GRCm39)	Q626*	probably null	Het
Angpt2	C	T	8: 18,791,075 (GRCm39)	D74N	probably benign	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Areg	T	C	5: 91,294,583 (GRCm39)	I247T	possibly damaging	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,556,062 (GRCm39)	S246T	probably benign	Het
Atp8b1	T	C	18: 64,678,251 (GRCm39)	R882G	probably benign	Het
Atp9a	A	G	2: 168,510,101 (GRCm39)	V444A	probably benign	Het
Babam2	T	A	5: 32,058,486 (GRCm39)	Y211N	probably damaging	Het
Ccdc127	T	G	13: 74,505,187 (GRCm39)		probably benign	Het
Cep192	A	T	18: 68,017,901 (GRCm39)	K2500*	probably null	Het
Cnot4	T	C	6: 35,028,311 (GRCm39)	N435S	probably benign	Het
Col12a1	T	C	9: 79,606,564 (GRCm39)	I620V	probably damaging	Het
Cyth4	G	A	15: 78,490,074 (GRCm39)	M62I	probably benign	Het
Dchs1	C	T	7: 105,407,880 (GRCm39)	R1984Q	probably damaging	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Disp2	A	G	2: 118,620,807 (GRCm39)	Y513C	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,415,833 (GRCm39)	M384K	probably benign	Het
Emc1	G	T	4: 139,089,513 (GRCm39)	G227V	possibly damaging	Het
Eri2	A	G	7: 119,386,955 (GRCm39)		probably null	Het
Frzb	A	G	2: 80,254,941 (GRCm39)		probably null	Het
Ganc	T	A	2: 120,283,075 (GRCm39)	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,031,729 (GRCm39)		probably benign	Het
Gm3086	A	T	12: 70,016,155 (GRCm39)		probably benign	Het
Gsdmc2	A	T	15: 63,698,650 (GRCm39)	Y315*	probably null	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Hhip	C	T	8: 80,719,199 (GRCm39)	D443N	probably damaging	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Kank2	T	C	9: 21,685,915 (GRCm39)	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,329,907 (GRCm39)	R345S	probably benign	Het
Larp7	A	G	3: 127,339,694 (GRCm39)		probably null	Het
Lgals12	A	G	19: 7,581,464 (GRCm39)	V81A	probably benign	Het
Lhx9	A	G	1: 138,760,486 (GRCm39)	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,264,456 (GRCm39)	H213L	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Neb	A	C	2: 52,077,494 (GRCm39)	S1846A	probably damaging	Het
Nr3c2	T	C	8: 77,635,936 (GRCm39)	S346P	possibly damaging	Het
Obi1	C	T	14: 104,747,819 (GRCm39)	D43N	probably damaging	Het
Or10h5	A	G	17: 33,434,784 (GRCm39)	F178S	probably benign	Het
Or1e1c	G	T	11: 73,266,176 (GRCm39)	L200F	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or5h19	T	C	16: 58,856,558 (GRCm39)	I181V	probably benign	Het
Or5p63	A	T	7: 107,811,201 (GRCm39)	N178K	probably damaging	Het
Osbpl10	A	G	9: 115,045,642 (GRCm39)	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,887,234 (GRCm39)	V210A	probably damaging	Het
Pam	A	T	1: 97,850,857 (GRCm39)	V167D	probably damaging	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Pbx4	C	T	8: 70,317,619 (GRCm39)	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,536,468 (GRCm39)	C821R	probably benign	Het
Plekhg3	T	C	12: 76,623,688 (GRCm39)	I976T	probably damaging	Het
Pold1	G	A	7: 44,190,753 (GRCm39)	R304C	probably damaging	Het
Prss38	T	C	11: 59,263,771 (GRCm39)	T314A	probably benign	Het
Psph	T	C	5: 129,846,450 (GRCm39)		probably null	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,862,173 (GRCm39)	E648G	probably damaging	Het
Ralgds	A	G	2: 28,435,428 (GRCm39)	E465G	probably damaging	Het
Rfng	T	C	11: 120,674,790 (GRCm39)	T67A	probably damaging	Het
Rps6kl1	G	T	12: 85,187,161 (GRCm39)	F181L	probably benign	Het
Spata46	G	A	1: 170,139,455 (GRCm39)	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Sspo	C	T	6: 48,455,330 (GRCm39)	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,704,396 (GRCm39)	I231T	probably damaging	Het
Tff3	G	A	17: 31,346,483 (GRCm39)	P30S	probably benign	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,147,708 (GRCm39)	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,223,569 (GRCm39)	T14A	probably damaging	Het
Tspan17	T	A	13: 54,942,877 (GRCm39)	C116*	probably null	Het
Ttn	T	C	2: 76,710,890 (GRCm39)		probably benign	Het
Tyr	T	C	7: 87,141,855 (GRCm39)	Y158C	probably null	Het
U2af1l4	G	T	7: 30,262,773 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,282,939 (GRCm39)	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,129,902 (GRCm39)	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,917,183 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,977,111 (GRCm39)	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,465,229 (GRCm39)	F345I	probably benign	Het
Zswim2	T	A	2: 83,745,739 (GRCm39)	R566S	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
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
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'- TCCTCAAACAAAGTTACTGGGG -3'
(R):5'- ACTGCTGTTACCTGTCACTGG -3'

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

Posted On

2015-11-11