Mutagenetix > Incidental Mutation

Incidental Mutation 'R2131:Dbt'

228045

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

040134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116306776-116343630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116332773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 16 (D16E)

Ref Sequence

ENSEMBL: ENSMUSP00000143696 (fasta)

Gene Model

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

AlphaFold

P53395

Predicted Effect

probably damaging
Transcript: ENSMUST00000000349
AA Change: D197E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: D197E

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

probably damaging
Transcript: ENSMUST00000197201
AA Change: D16E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000199614

Meta Mutation Damage Score

0.1976

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Acvr2b	A	G	9: 119,261,874 (GRCm39)	R437G	probably damaging	Het
Adamtsl3	C	A	7: 82,227,802 (GRCm39)	A1329E	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adra1a	A	T	14: 66,964,981 (GRCm39)	I324F	possibly damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Ampd1	G	T	3: 103,002,194 (GRCm39)		probably null	Het
Ankrd16	T	A	2: 11,788,506 (GRCm39)	D211E	probably damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apc	C	A	18: 34,445,098 (GRCm39)	Q665K	possibly damaging	Het
Arap2	T	C	5: 62,835,301 (GRCm39)	N747S	probably damaging	Het
Arsk	A	T	13: 76,239,931 (GRCm39)	C47*	probably null	Het
Atp8b5	T	A	4: 43,370,726 (GRCm39)	F1001I	probably benign	Het
Bap1	T	A	14: 30,980,288 (GRCm39)	Y645*	probably null	Het
Brca2	A	G	5: 150,480,594 (GRCm39)	Y2760C	probably damaging	Het
Cad	T	A	5: 31,215,416 (GRCm39)	F76I	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,120,763 (GRCm39)		probably benign	Het
Cdkn2c	A	C	4: 109,522,260 (GRCm39)	N28K	probably null	Het
Celsr1	T	A	15: 85,847,424 (GRCm39)	I1438F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Cldn1	G	C	16: 26,190,300 (GRCm39)	A26G	probably damaging	Het
Col20a1	T	A	2: 180,634,366 (GRCm39)	F110L	probably damaging	Het
Creg2	T	C	1: 39,664,146 (GRCm39)	N204S	probably benign	Het
Cx3cl1	C	A	8: 95,506,201 (GRCm39)	Q69K	probably benign	Het
Cyfip2	T	C	11: 46,176,958 (GRCm39)	E74G	possibly damaging	Het
Cyp2g1	A	T	7: 26,520,135 (GRCm39)	I456F	probably damaging	Het
Dapk1	A	G	13: 60,877,345 (GRCm39)	E528G	possibly damaging	Het
Dapk1	T	A	13: 60,909,481 (GRCm39)	W1365R	possibly damaging	Het
Depdc5	T	A	5: 33,148,125 (GRCm39)	L1469*	probably null	Het
Dnah3	T	A	7: 119,566,982 (GRCm39)	T2415S	possibly damaging	Het
Dnmbp	A	G	19: 43,842,750 (GRCm39)	L1210S	probably damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Eps15l1	A	T	8: 73,140,712 (GRCm39)	V260D	probably benign	Het
Eya1	A	G	1: 14,241,198 (GRCm39)	V573A	probably benign	Het
Fam171b	T	A	2: 83,710,202 (GRCm39)	S625T	probably damaging	Het
Fam186a	T	C	15: 99,831,557 (GRCm39)		probably benign	Het
Gabra4	G	T	5: 71,798,567 (GRCm39)	D137E	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gm43302	T	C	5: 105,422,610 (GRCm39)	D474G	probably damaging	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Gpr19	T	C	6: 134,847,405 (GRCm39)	M1V	probably null	Het
Hnf4a	T	A	2: 163,389,338 (GRCm39)	N29K	probably benign	Het
Htt	A	G	5: 35,034,453 (GRCm39)	R1975G	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Il4i1	G	A	7: 44,489,494 (GRCm39)	V420M	probably damaging	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Jmjd4	A	T	11: 59,345,781 (GRCm39)	H287L	probably damaging	Het
Kcnj13	A	G	1: 87,314,256 (GRCm39)	V322A	probably benign	Het
Kdm5d	T	C	Y: 941,483 (GRCm39)	L1228P	probably benign	Het
Klra3	A	G	6: 130,312,738 (GRCm39)	S9P	probably benign	Het
Ldhd	C	T	8: 112,355,169 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lmo7	A	T	14: 102,137,674 (GRCm39)	D670V	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Lrp5	T	C	19: 3,672,708 (GRCm39)	T534A	possibly damaging	Het
Lrrc24	A	T	15: 76,599,781 (GRCm39)	F453I	possibly damaging	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcpt8	T	C	14: 56,319,740 (GRCm39)	I237V	probably damaging	Het
Med4	A	G	14: 73,755,436 (GRCm39)	N248S	possibly damaging	Het
Mest	C	T	6: 30,745,884 (GRCm39)	L269F	probably damaging	Het
Mib2	C	T	4: 155,739,695 (GRCm39)		probably null	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mnx1	T	A	5: 29,679,187 (GRCm39)	S299C	unknown	Het
Nbr1	T	A	11: 101,457,017 (GRCm39)		probably null	Het
Ncapd3	T	G	9: 26,994,642 (GRCm39)	V1174G	probably damaging	Het
Nyap1	A	C	5: 137,731,943 (GRCm39)		probably null	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Oosp1	T	C	19: 11,668,314 (GRCm39)	D23G	probably damaging	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or6c205	T	C	10: 129,086,943 (GRCm39)	F180S	probably benign	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Otog	A	T	7: 45,899,524 (GRCm39)	N275I	probably damaging	Het
Pcdhb14	C	A	18: 37,580,923 (GRCm39)	Q10K	probably benign	Het
Pcx	T	C	19: 4,652,579 (GRCm39)	F189L	probably benign	Het
Pde6b	A	G	5: 108,576,069 (GRCm39)	D718G	probably damaging	Het
Pklr	C	A	3: 89,049,967 (GRCm39)	P314Q	probably damaging	Het
Plcb1	T	A	2: 135,167,587 (GRCm39)	Y460*	probably null	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Plekho1	A	G	3: 95,896,429 (GRCm39)	S347P	probably damaging	Het
Plxna2	G	A	1: 194,327,058 (GRCm39)	D331N	probably benign	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Prkra	A	T	2: 76,477,480 (GRCm39)	I75K	probably damaging	Het
Ptpn11	G	A	5: 121,310,089 (GRCm39)	A31V	probably damaging	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,937,430 (GRCm39)	C947*	probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Sarm1	A	T	11: 78,366,133 (GRCm39)	C649S	probably benign	Het
Septin12	T	A	16: 4,809,643 (GRCm39)	Q223L	probably damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Slc22a21	A	T	11: 53,870,559 (GRCm39)	L42Q	probably damaging	Het
Slc44a1	GCCC	GCCCCCCC	4: 53,563,246 (GRCm39)		probably null	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Spag6	T	A	2: 18,737,908 (GRCm39)	C259*	probably null	Het
Spata31e2	T	C	1: 26,724,935 (GRCm39)	R82G	probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Stk24	A	T	14: 121,539,623 (GRCm39)	I191N	probably damaging	Het
Tacc1	A	T	8: 25,654,509 (GRCm39)	N271K	probably damaging	Het
Tacc2	T	A	7: 130,223,587 (GRCm39)	S91T	possibly damaging	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tbccd1	A	G	16: 22,660,739 (GRCm39)	S26P	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tor1aip2	A	G	1: 155,941,095 (GRCm39)	Y467C	probably damaging	Het
Ttc9b	T	A	7: 27,353,774 (GRCm39)		probably null	Het
Tti1	T	C	2: 157,842,663 (GRCm39)	R789G	probably benign	Het
Ttn	A	T	2: 76,662,561 (GRCm39)		probably null	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube3d	A	T	9: 86,254,540 (GRCm39)		probably null	Het
Vav2	C	A	2: 27,189,408 (GRCm39)	R176L	possibly damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Wdr27	T	A	17: 15,148,594 (GRCm39)	D133V	probably damaging	Het
Zc3h7a	A	T	16: 10,968,469 (GRCm39)	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,474,392 (GRCm39)	L548Q	possibly damaging	Het
Zfp467	A	C	6: 48,419,595 (GRCm39)	S38A	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
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'- GCTGCAGGGCTACTCTTATT -3'
(R):5'- CACTGGCTCTGTTCGGTCTT -3'

Sequencing Primer
(F):5'- TGGCTGGCCTGGAACTCAG -3'
(R):5'- CGGTCTTTGCCTGTGAACACTG -3'

Posted On

2014-09-17