Mutagenetix > Incidental Mutation

Incidental Mutation 'R4737:Dbt'

359322

Institutional Source

Beutler Lab

Gene Symbol

Dbt

Ensembl Gene

ENSMUSG00000000340

Gene Name

dihydrolipoamide branched chain transacylase E2

Synonyms

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

MMRRC Submission

042024-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4737 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116513070-116549981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116539132 bp (GRCm38)

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (94/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,227,819		noncoding transcript	Het
Acp2	A	T	2: 91,210,723	R419W	probably benign	Het
Actr5	A	G	2: 158,628,071	N207S	probably damaging	Het
Afap1	G	A	5: 35,961,782	V254M	probably benign	Het
Arfgef1	A	T	1: 10,189,611	M544K	possibly damaging	Het
Arhgap5	A	T	12: 52,519,077	M944L	probably benign	Het
Bnip3l-ps	G	A	12: 18,216,772		noncoding transcript	Het
Carf	A	G	1: 60,109,318	T58A	probably benign	Het
Carns1	A	G	19: 4,170,928		probably benign	Het
Ccp110	T	A	7: 118,724,548	I670K	possibly damaging	Het
Cftr	T	A	6: 18,299,883	D1218E	probably benign	Het
Chrna9	A	T	5: 65,967,871	T52S	probably damaging	Het
Chst9	T	C	18: 15,452,777	Y243C	probably damaging	Het
Clk2	A	T	3: 89,168,709	H62L	probably benign	Het
Cntnap2	A	T	6: 45,060,317	R10W	possibly damaging	Het
Cpt1b	C	T	15: 89,421,406	D369N	probably benign	Het
Crhr2	G	T	6: 55,091,305	H423Q	probably damaging	Het
D8Ertd738e	T	A	8: 84,249,521	I33F	probably damaging	Het
Ddhd1	A	T	14: 45,628,821		probably benign	Het
Ddx27	A	G	2: 167,029,299	I480V	probably benign	Het
Dpp9	A	C	17: 56,198,970		probably null	Het
Dpy19l3	A	T	7: 35,703,501	M562K	probably damaging	Het
Dus3l	T	C	17: 56,767,868	L330P	probably damaging	Het
Efcab7	C	T	4: 99,831,568	Q96*	probably null	Het
Egfr	T	C	11: 16,869,231	F254L	probably damaging	Het
Eml5	C	T	12: 98,798,852	V1566M	probably damaging	Het
Entpd7	T	A	19: 43,691,195	Y62*	probably null	Het
Erbb4	T	C	1: 68,343,900	M313V	probably damaging	Het
Gm5528	A	G	1: 72,004,552		noncoding transcript	Het
H2-M9	G	T	17: 36,640,739	Y281*	probably null	Het
Hmcn1	T	G	1: 150,689,595	K2260N	possibly damaging	Het
Hnf4a	A	G	2: 163,564,219	I259V	probably benign	Het
Ick	A	G	9: 78,150,654	T162A	probably damaging	Het
Insm1	A	T	2: 146,222,902	T213S	probably benign	Het
Iqca	T	C	1: 90,077,822	D488G	probably damaging	Het
Kdm5a	T	A	6: 120,406,015		probably benign	Het
Kdm7a	G	C	6: 39,152,839	L468V	possibly damaging	Het
Lck	G	A	4: 129,555,984	T229I	possibly damaging	Het
Lig3	T	C	11: 82,787,727	L265P	probably damaging	Het
Lipa	T	A	19: 34,501,634	K229*	probably null	Het
Lrrk1	C	T	7: 66,306,873	S418N	probably benign	Het
Mark2	A	G	19: 7,281,232	V126A	probably damaging	Het
Met	T	C	6: 17,491,541	C101R	probably damaging	Het
Mkln1	A	T	6: 31,426,799	K85M	probably damaging	Het
Mst1	A	G	9: 108,080,521	R15G	probably benign	Het
Muc6	T	G	7: 141,640,159		probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Myo7b	T	C	18: 31,998,602	S514G	probably damaging	Het
Narfl	A	T	17: 25,781,309	H322L	probably damaging	Het
Nars	T	C	18: 64,516,427	E11G	probably benign	Het
Ogdh	T	A	11: 6,297,044	F23I	probably benign	Het
Olfr1121	T	C	2: 87,372,321	I263T	probably damaging	Het
Olfr1186	C	T	2: 88,526,225	S214F	probably damaging	Het
Olfr1238	C	T	2: 89,406,486	V198I	probably benign	Het
Olfr1272	A	G	2: 90,282,381	S65P	probably damaging	Het
Olfr584	C	T	7: 103,085,914	A127V	probably damaging	Het
Olfr825	T	A	10: 130,162,838	T163S	probably benign	Het
Olfr979	A	T	9: 40,000,422	D268E	probably damaging	Het
Otub2	T	A	12: 103,392,844	L64Q	probably benign	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Patl2	T	A	2: 122,125,306	T250S	probably damaging	Het
Pcdhac2	C	T	18: 37,145,899	T644I	possibly damaging	Het
Pi4kb	C	T	3: 95,004,338	T690I	probably damaging	Het
Pla2g4d	T	C	2: 120,266,790	Y776C	probably benign	Het
Plekhh2	C	T	17: 84,563,959	S215L	probably benign	Het
Psmd2	T	G	16: 20,659,815		probably benign	Het
Ptpn21	T	C	12: 98,708,844	E183G	probably benign	Het
Ptprg	T	A	14: 12,226,314	D527E	probably damaging	Het
Rhobtb1	T	A	10: 69,279,497		probably null	Het
Scel	T	A	14: 103,572,037	M271K	possibly damaging	Het
Senp3	A	T	11: 69,678,829	C310*	probably null	Het
Slc25a3	T	C	10: 91,122,188	T97A	possibly damaging	Het
Srsf11	A	T	3: 158,026,732	Y82*	probably null	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,648	E145G	probably damaging	Het
Tln1	T	C	4: 43,540,588	N1471S	probably benign	Het
Tnn	T	G	1: 160,146,089	D236A	probably damaging	Het
Trmt2a	C	T	16: 18,251,286		probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubxn10	G	A	4: 138,735,948		probably benign	Het
Ulk4	G	A	9: 121,073,872	Q1180*	probably null	Het
Usp43	T	A	11: 67,855,505	K1120N	probably damaging	Het
Uspl1	T	A	5: 149,194,339	L244Q	possibly damaging	Het
Vmn1r32	T	C	6: 66,553,645	H49R	probably damaging	Het
Vmn2r4	T	C	3: 64,409,963	D118G	probably damaging	Het
Vwce	A	G	19: 10,650,579	I468V	probably benign	Het
Zbtb7c	G	T	18: 76,146,154	R561L	probably benign	Het
Zfp956	T	C	6: 47,962,542	S175P	probably damaging	Het

Other mutations in Dbt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Dbt	APN	3	116539281	missense	probably benign
IGL00660:Dbt	APN	3	116546295	missense	probably damaging	1.00
IGL00839:Dbt	APN	3	116546114	missense	probably benign	0.21
IGL00840:Dbt	APN	3	116546114	missense	probably benign	0.21
IGL00841:Dbt	APN	3	116546114	missense	probably benign	0.21
IGL00852:Dbt	APN	3	116546114	missense	probably benign	0.21
IGL00861:Dbt	APN	3	116546114	missense	probably benign	0.21
IGL00955:Dbt	APN	3	116546114	missense	probably benign	0.21
IGL00956:Dbt	APN	3	116546114	missense	probably benign	0.21
IGL01475:Dbt	APN	3	116520259	missense	possibly damaging	0.92
IGL01521:Dbt	APN	3	116533383	missense	probably benign	0.00
IGL01806:Dbt	APN	3	116533305	missense	probably damaging	1.00
IGL03288:Dbt	APN	3	116548198	makesense	probably null
R0025:Dbt	UTSW	3	116534783	missense	probably benign	0.22
R0066:Dbt	UTSW	3	116543829	missense	probably benign	0.00
R0066:Dbt	UTSW	3	116543829	missense	probably benign	0.00
R0190:Dbt	UTSW	3	116539087	critical splice acceptor site	probably null
R1650:Dbt	UTSW	3	116534732	splice site	probably null
R1750:Dbt	UTSW	3	116546294	missense	probably benign	0.18
R2130:Dbt	UTSW	3	116539124	missense	probably damaging	1.00
R2131:Dbt	UTSW	3	116539124	missense	probably damaging	1.00
R2133:Dbt	UTSW	3	116539124	missense	probably damaging	1.00
R2897:Dbt	UTSW	3	116523412	missense	probably damaging	1.00
R3442:Dbt	UTSW	3	116548191	missense	probably benign
R4241:Dbt	UTSW	3	116533296	missense	probably damaging	1.00
R4681:Dbt	UTSW	3	116533314	missense	probably damaging	1.00
R4724:Dbt	UTSW	3	116533296	missense	probably damaging	1.00
R4736:Dbt	UTSW	3	116539132	missense	probably damaging	0.99
R4738:Dbt	UTSW	3	116539132	missense	probably damaging	0.99
R4740:Dbt	UTSW	3	116539132	missense	probably damaging	0.99
R4809:Dbt	UTSW	3	116546343	missense	probably damaging	1.00
R4823:Dbt	UTSW	3	116523387	missense	probably damaging	1.00
R4861:Dbt	UTSW	3	116548078	missense	probably benign	0.00
R4861:Dbt	UTSW	3	116548078	missense	probably benign	0.00
R5148:Dbt	UTSW	3	116528244	intron	probably benign
R5327:Dbt	UTSW	3	116528571	intron	probably benign
R5700:Dbt	UTSW	3	116520303	missense	probably damaging	0.97
R5931:Dbt	UTSW	3	116523425	missense	possibly damaging	0.80
R6463:Dbt	UTSW	3	116539760	missense	possibly damaging	0.51
R7841:Dbt	UTSW	3	116546097	missense	possibly damaging	0.85
R8122:Dbt	UTSW	3	116520242	nonsense	probably null
R8385:Dbt	UTSW	3	116523390	missense	probably damaging	1.00
R8941:Dbt	UTSW	3	116546049	missense	probably damaging	0.99
R9734:Dbt	UTSW	3	116546055	missense	probably benign
RF008:Dbt	UTSW	3	116548068	nonsense	probably null
RF016:Dbt	UTSW	3	116539714	missense	probably damaging	1.00
Z1177:Dbt	UTSW	3	116546091	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