Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02150:Dlst'

281952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlst

Ensembl Gene

ENSMUSG00000004789

Gene Name

dihydrolipoamide S-succinyltransferase

Synonyms

4930529O08Rik, 1600017E01Rik, 4632413C10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL02150

Quality Score

Status

Chromosome

Chromosomal Location

85157597-85180865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85177807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 400 (I400N)

Ref Sequence

ENSEMBL: ENSMUSP00000152664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019379] [ENSMUST00000053811] [ENSMUST00000221357] [ENSMUST00000221972] [ENSMUST00000223332]

AlphaFold

Q9D2G2

Predicted Effect

probably benign
Transcript: ENSMUST00000019379

SMART Domains

Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
MIT	46	123	8.99e-25	SMART
low complexity region	155	166	N/A	INTRINSIC
Pfam:Pkinase_Tyr	178	519	1.9e-12	PFAM
Pfam:Pkinase	367	534	1.1e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053811
AA Change: I400N

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060346
Gene: ENSMUSG00000004789
AA Change: I400N

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: ENSMUST00000220633

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221357
AA Change: I400N

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000221972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223438

Predicted Effect

probably benign
Transcript: ENSMUST00000223332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223409

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	C	T	9: 65,420,001 (GRCm39)	G92S	probably damaging	Het
Arid1a	A	T	4: 133,414,568 (GRCm39)	M1221K	unknown	Het
Arl10	G	A	13: 54,726,662 (GRCm39)	V147M	probably damaging	Het
Bbs4	T	C	9: 59,243,651 (GRCm39)	N152S	probably benign	Het
Cacna2d2	T	G	9: 107,404,515 (GRCm39)		probably benign	Het
Capn9	A	G	8: 125,340,582 (GRCm39)	E582G	probably benign	Het
Cct2	A	T	10: 116,898,004 (GRCm39)	L61Q	probably damaging	Het
Clip4	A	G	17: 72,106,071 (GRCm39)	I85V	probably damaging	Het
Daam2	A	T	17: 49,797,332 (GRCm39)	L151Q	possibly damaging	Het
Dock7	A	T	4: 98,968,089 (GRCm39)		probably benign	Het
Dynlrb2	A	G	8: 117,242,449 (GRCm39)	N93S	probably benign	Het
Efl1	A	G	7: 82,335,899 (GRCm39)	T407A	probably benign	Het
Emilin1	A	G	5: 31,077,517 (GRCm39)	D891G	possibly damaging	Het
Enpp4	A	C	17: 44,413,049 (GRCm39)	S162A	probably benign	Het
Epas1	A	G	17: 87,112,717 (GRCm39)	D105G	probably damaging	Het
Fcgbpl1	T	A	7: 27,846,204 (GRCm39)	Y965*	probably null	Het
Gcn1	T	A	5: 115,747,927 (GRCm39)	I1778N	probably damaging	Het
Gm14496	A	C	2: 181,633,140 (GRCm39)	D41A	probably damaging	Het
Gm7008	T	A	12: 40,273,257 (GRCm39)		probably benign	Het
Hcfc2	G	A	10: 82,545,852 (GRCm39)	S246N	probably damaging	Het
Hectd1	T	C	12: 51,815,974 (GRCm39)	N1366S	probably damaging	Het
Lgmn	T	C	12: 102,361,986 (GRCm39)	R372G	possibly damaging	Het
Map2k7	A	G	8: 4,293,818 (GRCm39)	M153V	possibly damaging	Het
Megf8	T	A	7: 25,045,842 (GRCm39)		probably null	Het
Mgat4c	A	C	10: 102,224,983 (GRCm39)	E399A	probably benign	Het
Myorg	A	G	4: 41,499,183 (GRCm39)	V149A	possibly damaging	Het
Nfat5	C	T	8: 108,094,584 (GRCm39)	Q942*	probably null	Het
Notch4	A	G	17: 34,803,587 (GRCm39)	E1502G	probably damaging	Het
Optn	A	C	2: 5,037,963 (GRCm39)	I410M	probably damaging	Het
Or6b9	G	T	7: 106,555,763 (GRCm39)	P127T	probably damaging	Het
Or8c17	A	T	9: 38,180,564 (GRCm39)	I252L	possibly damaging	Het
Ppp1ca	G	A	19: 4,244,698 (GRCm39)		probably benign	Het
Pramel5	C	A	4: 143,999,771 (GRCm39)	L105F	possibly damaging	Het
Rad54b	T	A	4: 11,610,502 (GRCm39)	N706K	probably damaging	Het
Rgs11	A	T	17: 26,421,968 (GRCm39)	T6S	probably benign	Het
Sbf1	T	C	15: 89,179,683 (GRCm39)	H1308R	probably benign	Het
Scart2	G	A	7: 139,877,772 (GRCm39)	G918D	possibly damaging	Het
Sec31a	T	C	5: 100,533,984 (GRCm39)		probably benign	Het
Sh2d5	G	A	4: 137,985,553 (GRCm39)	D334N	probably benign	Het
Skint5	T	A	4: 113,742,988 (GRCm39)	I360F	unknown	Het
Slc12a1	G	A	2: 125,026,735 (GRCm39)	D457N	probably damaging	Het
Slco2a1	C	T	9: 102,962,017 (GRCm39)	A563V	probably damaging	Het
Snrnp35	G	A	5: 124,628,471 (GRCm39)	A95T	probably damaging	Het
Snx25	C	A	8: 46,569,318 (GRCm39)	R193L	possibly damaging	Het
Stxbp5	T	G	10: 9,638,565 (GRCm39)	Q1078P	probably damaging	Het
Tmc2	A	T	2: 130,082,073 (GRCm39)	I419F	probably damaging	Het
Tmem87a	A	T	2: 120,190,557 (GRCm39)	W525R	probably damaging	Het
Trhde	A	T	10: 114,428,013 (GRCm39)	S428T	probably damaging	Het
Trp73	G	A	4: 154,165,943 (GRCm39)	A42V	possibly damaging	Het
Ttn	T	C	2: 76,679,316 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,598,846 (GRCm39)	V19356M	probably damaging	Het
Vmn1r170	T	A	7: 23,306,465 (GRCm39)	L289*	probably null	Het
Vwa5b2	A	T	16: 20,423,576 (GRCm39)	Q1163L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		probably benign	Het
Wdr70	T	G	15: 8,112,030 (GRCm39)	K71T	possibly damaging	Het
Zbtb41	T	C	1: 139,368,186 (GRCm39)	S625P	possibly damaging	Het
Zfp518b	A	G	5: 38,830,686 (GRCm39)	S440P	probably damaging	Het
Zfp518b	A	G	5: 38,831,132 (GRCm39)	V291A	probably damaging	Het
Zmym2	G	A	14: 57,148,526 (GRCm39)		probably benign	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
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
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

Posted On

2015-04-16