Mutagenetix > Incidental Mutation

Incidental Mutation 'R6039:Dlst'

486753

Institutional Source

Beutler Lab

Gene Symbol

Dlst

Ensembl Gene

ENSMUSG00000004789

Gene Name

dihydrolipoamide S-succinyltransferase

Synonyms

4930529O08Rik, 1600017E01Rik, 4632413C10Rik

MMRRC Submission

043259-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85157597-85180865 bp(+) (GRCm39)

Type of Mutation

splice site (53 bp from exon)

DNA Base Change (assembly)

T to A at 85165664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053811] [ENSMUST00000221357] [ENSMUST00000223332]

AlphaFold

Q9D2G2

Predicted Effect

probably null
Transcript: ENSMUST00000053811

SMART Domains

Protein: ENSMUSP00000060346
Gene: ENSMUSG00000004789

Domain	Start	End	E-Value	Type
Pfam:Biotin_lipoyl	72	144	1.7e-22	PFAM
low complexity region	149	180	N/A	INTRINSIC
low complexity region	186	201	N/A	INTRINSIC
low complexity region	205	217	N/A	INTRINSIC
Pfam:2-oxoacid_dh	221	452	2.3e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221288

Predicted Effect

probably benign
Transcript: ENSMUST00000221357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222998

Predicted Effect

probably benign
Transcript: ENSMUST00000223332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223415

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice heterozygous for a gene trap allele exhibit an accelerates amyloid pathology and memory deficit in a transgenic mouse model of amyloid deposition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	T	6: 92,885,527 (GRCm39)	R416Q	possibly damaging	Het
Adgre1	C	A	17: 57,713,859 (GRCm39)	D181E	probably benign	Het
Arhgap24	T	C	5: 103,028,652 (GRCm39)	S183P	probably damaging	Het
Asb1	T	C	1: 91,474,748 (GRCm39)	L90P	probably damaging	Het
Bmp3	T	C	5: 99,020,209 (GRCm39)	F211L	probably benign	Het
C8a	A	G	4: 104,703,139 (GRCm39)	I306T	probably benign	Het
Cdkn3	G	A	14: 47,007,373 (GRCm39)	G177R	probably damaging	Het
Chat	A	G	14: 32,170,984 (GRCm39)	S172P	probably damaging	Het
Chd5	CAAGAAGAAGAAGAAGAA	CAAGAAGAAGAAGAA	4: 152,438,078 (GRCm39)		probably benign	Het
Cyp4a12a	T	C	4: 115,184,420 (GRCm39)	I265T	probably damaging	Het
Dnmt1	A	T	9: 20,837,716 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,205,800 (GRCm39)	E1066K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fstl1	T	A	16: 37,641,538 (GRCm39)	S105T	probably benign	Het
Gm19410	C	G	8: 36,276,518 (GRCm39)	A1725G	probably benign	Het
Hspb7	A	G	4: 141,151,215 (GRCm39)	N119S	probably damaging	Het
Il20	T	A	1: 130,838,478 (GRCm39)	D73V	possibly damaging	Het
Insrr	T	C	3: 87,716,608 (GRCm39)	I612T	possibly damaging	Het
Kcnma1	T	C	14: 23,359,105 (GRCm39)	Y1107C	probably benign	Het
Klhl32	A	G	4: 24,792,615 (GRCm39)		probably null	Het
Krt77	C	A	15: 101,769,351 (GRCm39)	R470L	possibly damaging	Het
Muc1	T	C	3: 89,139,336 (GRCm39)	Y579H	probably damaging	Het
Myof	T	C	19: 37,966,132 (GRCm39)	D396G	probably damaging	Het
Myom1	T	G	17: 71,417,746 (GRCm39)	D1316E	probably damaging	Het
Nbea	T	C	3: 55,912,538 (GRCm39)	E1083G	probably benign	Het
Nek9	G	A	12: 85,359,859 (GRCm39)	A531V	probably benign	Het
Nlrp12	A	T	7: 3,290,002 (GRCm39)	I170N	possibly damaging	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Paqr4	T	C	17: 23,958,968 (GRCm39)	D11G	probably damaging	Het
Parp8	A	G	13: 117,014,134 (GRCm39)	S561P	probably damaging	Het
Pcgf5	T	A	19: 36,420,306 (GRCm39)	F179L	probably damaging	Het
Pde4d	A	T	13: 110,084,876 (GRCm39)	Q422L	probably damaging	Het
Pigs	T	A	11: 78,232,651 (GRCm39)	V495E	probably damaging	Het
Polh	C	T	17: 46,498,959 (GRCm39)	R252H	probably benign	Het
Psg28	T	C	7: 18,160,107 (GRCm39)	D363G	possibly damaging	Het
Ptgir	A	T	7: 16,640,815 (GRCm39)	I36F	possibly damaging	Het
Ptprr	G	A	10: 116,072,668 (GRCm39)		probably null	Het
Rax	C	T	18: 66,068,418 (GRCm39)	G229D	unknown	Het
Secisbp2l	T	A	2: 125,615,136 (GRCm39)	H163L	probably benign	Het
Sf3a2	A	G	10: 80,637,297 (GRCm39)	Y45C	probably damaging	Het
Sgo2a	C	T	1: 58,055,775 (GRCm39)	T653I	possibly damaging	Het
Slc38a9	A	T	13: 112,806,231 (GRCm39)	I26F	probably damaging	Het
Slc5a8	A	G	10: 88,722,436 (GRCm39)	I90V	probably benign	Het
Slx4	G	A	16: 3,803,911 (GRCm39)	H968Y	possibly damaging	Het
Stam2	T	C	2: 52,599,611 (GRCm39)	T233A	probably benign	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Trav4-2	G	A	14: 53,655,866 (GRCm39)	V8M	possibly damaging	Het
Ttll5	T	A	12: 85,878,729 (GRCm39)	H45Q	probably damaging	Het
Ttn	C	T	2: 76,714,762 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,051,217 (GRCm39)	F234L	possibly damaging	Het
Vmn2r74	T	A	7: 85,607,526 (GRCm39)		probably null	Het
Wdr6	CTG	C	9: 108,450,994 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,291 (GRCm39)	S997P	possibly damaging	Het
Zfp853	G	A	5: 143,274,529 (GRCm39)	Q364*	probably null	Het

Other mutations in Dlst

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02120:Dlst	APN	12	85,165,342 (GRCm39)	missense	probably benign	0.01
IGL02150:Dlst	APN	12	85,177,807 (GRCm39)	missense	possibly damaging	0.91
IGL02223:Dlst	APN	12	85,177,692 (GRCm39)	missense	probably benign	0.13
I1329:Dlst	UTSW	12	85,170,615 (GRCm39)	missense	probably damaging	1.00
R0331:Dlst	UTSW	12	85,165,586 (GRCm39)	missense	probably damaging	1.00
R1087:Dlst	UTSW	12	85,179,413 (GRCm39)	missense	probably damaging	1.00
R1218:Dlst	UTSW	12	85,170,638 (GRCm39)	missense	probably damaging	1.00
R3901:Dlst	UTSW	12	85,179,465 (GRCm39)	missense	possibly damaging	0.55
R4705:Dlst	UTSW	12	85,165,616 (GRCm39)	splice site	probably null
R5457:Dlst	UTSW	12	85,168,914 (GRCm39)	critical splice donor site	probably null
R6039:Dlst	UTSW	12	85,165,664 (GRCm39)	splice site	probably null
R6422:Dlst	UTSW	12	85,177,659 (GRCm39)	splice site	probably null
R7078:Dlst	UTSW	12	85,157,705 (GRCm39)	missense	probably benign	0.03
R7366:Dlst	UTSW	12	85,175,089 (GRCm39)	missense	probably benign
R7900:Dlst	UTSW	12	85,177,292 (GRCm39)	missense	probably benign	0.00
R9319:Dlst	UTSW	12	85,170,585 (GRCm39)	missense	probably damaging	1.00
Z1177:Dlst	UTSW	12	85,157,667 (GRCm39)	utr 5 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACACAGTGGGTTAACAGGG -3'
(R):5'- GGATATTACATCTCCTCTGCACAC -3'

Sequencing Primer
(F):5'- TTCAGCTGTTGGAGATGC -3'
(R):5'- ACCTAAGGCCATGTTTTCAGTCAG -3'

Posted On

2017-08-16