Mutagenetix > Incidental Mutation

Incidental Mutation 'R7841:Dbt'

606283

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

045895-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7841 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116306776-116343630 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116339746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 378 (Q378L)

Ref Sequence

ENSEMBL: ENSMUSP00000000349 (fasta)

Gene Model

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

AlphaFold

P53395

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000349
AA Change: Q378L

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: Q378L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	C	5: 103,802,806 (GRCm39)	K16R	possibly damaging	Het
2810408A11Rik	A	G	11: 69,790,112 (GRCm39)	F210L	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
B9d1	A	G	11: 61,397,192 (GRCm39)	Y29C	possibly damaging	Het
Cald1	T	C	6: 34,722,696 (GRCm39)	F115L	unknown	Het
Ccnd1	A	T	7: 144,491,718 (GRCm39)	M107K	probably damaging	Het
Ccnh	G	A	13: 85,337,712 (GRCm39)	A20T	probably benign	Het
Cep162	T	C	9: 87,126,369 (GRCm39)	D181G	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,561,692 (GRCm39)	D262G	probably benign	Het
Cic	A	G	7: 24,985,192 (GRCm39)	Y1146C	probably damaging	Het
Cmtm1	G	A	8: 105,036,108 (GRCm39)	R174C	possibly damaging	Het
Cobl	G	T	11: 12,203,324 (GRCm39)	P1126H	probably damaging	Het
Col14a1	T	A	15: 55,245,876 (GRCm39)	M460K	unknown	Het
Cst11	G	A	2: 148,613,227 (GRCm39)	R33W	possibly damaging	Het
Cyp19a1	A	T	9: 54,079,089 (GRCm39)	V340E	probably benign	Het
Dchs1	A	G	7: 105,412,180 (GRCm39)	V1312A	probably benign	Het
Eif3l	T	C	15: 78,973,779 (GRCm39)	M398T	probably benign	Het
Faxc	A	G	4: 21,958,584 (GRCm39)	H247R	probably benign	Het
Fbxl17	T	C	17: 63,794,820 (GRCm39)	R421G	probably damaging	Het
Fbxo3	T	A	2: 103,890,337 (GRCm39)	D450E	unknown	Het
Fmn1	T	C	2: 113,359,810 (GRCm39)		probably null	Het
Foxs1	T	A	2: 152,774,907 (GRCm39)	M49L	possibly damaging	Het
Gucy1a2	A	G	9: 3,634,766 (GRCm39)	E270G	probably benign	Het
Helz2	T	C	2: 180,874,695 (GRCm39)	D1933G	probably damaging	Het
Hspa4	G	A	11: 53,157,887 (GRCm39)	A572V	possibly damaging	Het
Ica1	T	A	6: 8,737,072 (GRCm39)	D174V	probably damaging	Het
Igfbp6	A	T	15: 102,056,352 (GRCm39)	Q137L	possibly damaging	Het
Il1r2	T	C	1: 40,144,628 (GRCm39)	L105P	probably damaging	Het
Iqca1	A	T	1: 89,987,337 (GRCm39)	C72S		Het
Itgbl1	T	C	14: 124,209,645 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,699 (GRCm39)	Q122L	possibly damaging	Het
Kdsr	T	C	1: 106,671,415 (GRCm39)	E198G	probably damaging	Het
Lama2	T	C	10: 27,031,529 (GRCm39)	T1510A	probably benign	Het
Lrrc37a	A	T	11: 103,391,931 (GRCm39)	Y1165N	probably benign	Het
Mycbp2	A	G	14: 103,384,267 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,989,518 (GRCm39)	E1546G	probably damaging	Het
Nacad	A	T	11: 6,551,031 (GRCm39)	V720E	probably benign	Het
Napa	A	G	7: 15,849,559 (GRCm39)	D257G	possibly damaging	Het
Nif3l1	T	C	1: 58,487,042 (GRCm39)	V76A	probably damaging	Het
Nkapd1	A	C	9: 50,521,716 (GRCm39)	S68R	probably damaging	Het
Nphp4	G	A	4: 152,581,140 (GRCm39)	S108N	probably benign	Het
Npr1	A	T	3: 90,362,175 (GRCm39)	L990H	probably damaging	Het
Nup205	A	G	6: 35,224,372 (GRCm39)	R322G	unknown	Het
Or4a79	C	A	2: 89,552,309 (GRCm39)	A49S	probably benign	Het
Or4q3	G	T	14: 50,583,285 (GRCm39)	Q174K	probably benign	Het
Or52n2c	T	A	7: 104,574,066 (GRCm39)	I302F	possibly damaging	Het
Or8c14-ps1	T	G	9: 38,101,777 (GRCm39)	M252R	unknown	Het
Or8c19-ps1	T	A	9: 38,220,817 (GRCm39)	V242E	unknown	Het
Ovch2	G	T	7: 107,393,298 (GRCm39)	Q192K	probably benign	Het
Pcca	T	A	14: 122,800,384 (GRCm39)	D91E	probably benign	Het
Pole2	T	C	12: 69,251,032 (GRCm39)	T444A	probably damaging	Het
Ppip5k1	T	C	2: 121,173,276 (GRCm39)	K466E	probably benign	Het
Prr35	A	T	17: 26,167,458 (GRCm39)	Y26*	probably null	Het
Ptgfrn	A	T	3: 100,968,126 (GRCm39)	I489N	probably damaging	Het
Rassf1	A	G	9: 107,438,744 (GRCm39)	*341W	probably null	Het
Ret	G	A	6: 118,132,321 (GRCm39)	P1040S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Slc6a17	A	T	3: 107,384,214 (GRCm39)	Y377N	possibly damaging	Het
Snrnp200	C	A	2: 127,078,754 (GRCm39)	D1806E	probably benign	Het
Synj2	G	A	17: 6,094,419 (GRCm39)	R1215H	unknown	Het
Tbc1d5	TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG	TTGCTGCTG	17: 51,106,950 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,913,176 (GRCm39)	D85E	probably damaging	Het
Tram1l1	A	T	3: 124,115,353 (GRCm39)	Q171L	probably damaging	Het
Tram1l1	G	T	3: 124,115,354 (GRCm39)	Q171H	probably damaging	Het
Tspyl4	A	G	10: 34,174,267 (GRCm39)	H253R	probably damaging	Het
Ttn	T	C	2: 76,662,490 (GRCm39)	I23V		Het
Ubr5	T	C	15: 37,981,150 (GRCm39)	N2376D		Het
Ugt2b37	T	C	5: 87,398,489 (GRCm39)	N316D	probably benign	Het
Usp31	A	C	7: 121,247,679 (GRCm39)	S1255A	probably benign	Het
Usp31	A	T	7: 121,276,535 (GRCm39)	V334E	probably damaging	Het
Vmn2r108	A	G	17: 20,690,305 (GRCm39)		probably null	Het
Vmn2r87	T	A	10: 130,333,095 (GRCm39)	T52S	probably benign	Het
Vrk2	C	A	11: 26,421,457 (GRCm39)	L500F	probably damaging	Het
Zan	T	A	5: 137,435,064 (GRCm39)	I2110F	unknown	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
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
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'- GCAGCAGAGTTTATCTTTTCTTTGC -3'
(R):5'- CACCGATCTGAGAAGAGTGG -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- GGAAAATTTAGCTTTCAGGGAATGCC -3'

Posted On

2019-12-20