Incidental Mutation 'IGL02120:Dlst'
ID280538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlst
Ensembl Gene ENSMUSG00000004789
Gene Namedihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL02120
Quality Score
Status
Chromosome12
Chromosomal Location85110833-85134845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85118568 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 82 (S82P)
Ref Sequence ENSEMBL: ENSMUSP00000152664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053811] [ENSMUST00000221357] [ENSMUST00000223332]
Predicted Effect probably benign
Transcript: ENSMUST00000053811
AA Change: S82P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000060346
Gene: ENSMUSG00000004789
AA Change: S82P

DomainStartEndE-ValueType
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: ENSMUST00000221288
Predicted Effect probably benign
Transcript: ENSMUST00000221357
AA Change: S82P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik C T 4: 144,418,411 R195H probably benign Het
Abcb11 T C 2: 69,257,310 Y1037C probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd33b T C 15: 31,367,056 T113A possibly damaging Het
Aox3 T A 1: 58,127,650 N177K probably benign Het
Arhgap29 T A 3: 122,004,257 V532E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Caskin1 G T 17: 24,500,942 G401V probably damaging Het
Cemip A T 7: 83,951,563 M950K probably damaging Het
Chrd T C 16: 20,734,541 V211A probably damaging Het
Ckap2l T C 2: 129,285,622 N212S possibly damaging Het
Clip1 T C 5: 123,647,883 D246G probably damaging Het
Dmxl1 T A 18: 49,894,178 L2118M possibly damaging Het
Dnah7a T C 1: 53,495,717 K2795E possibly damaging Het
Enpp5 T A 17: 44,080,845 M55K probably benign Het
Epdr1 A T 13: 19,594,471 S50T probably damaging Het
Gm6169 G T 13: 97,098,777 probably benign Het
Gm7808 T A 9: 19,928,017 probably benign Het
Huwe1 T A X: 151,907,390 F2485I possibly damaging Het
Kcnb2 C T 1: 15,709,861 T319M probably damaging Het
Lama1 G A 17: 67,716,789 V60M probably damaging Het
Lingo3 A T 10: 80,835,859 L79Q probably damaging Het
Magi2 T A 5: 20,228,453 probably null Het
Mob2 C A 7: 142,010,298 V33L possibly damaging Het
Mus81 G A 19: 5,485,633 probably benign Het
Nup210l G A 3: 90,136,862 G490D probably damaging Het
Olfr702 A C 7: 106,823,698 V276G possibly damaging Het
Pbp2 A G 6: 135,309,818 V177A probably damaging Het
Pomt2 T C 12: 87,111,552 D656G probably benign Het
Ppp2r1b A G 9: 50,861,769 probably benign Het
Ptprq T C 10: 107,667,472 E775G probably damaging Het
Rad54l T C 4: 116,098,984 I549V probably benign Het
Ranbp10 T C 8: 105,805,582 Y145C probably damaging Het
Runx1t1 A T 4: 13,846,884 T223S probably benign Het
Stxbp6 G T 12: 44,902,048 probably benign Het
Syne2 A G 12: 75,946,706 D2085G probably damaging Het
Szt2 C T 4: 118,388,564 R1064Q probably benign Het
Taar3 A G 10: 23,950,167 T204A probably benign Het
Tdpoz1 A G 3: 93,670,443 S345P probably damaging Het
Tgm4 T A 9: 123,046,529 I149N probably damaging Het
Tubal3 T A 13: 3,930,675 I129N probably damaging Het
Vegfc T C 8: 54,181,401 F372L possibly damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vwf C A 6: 125,616,034 L786M probably benign Het
Other mutations in Dlst
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02150:Dlst APN 12 85131033 missense possibly damaging 0.91
IGL02223:Dlst APN 12 85130918 missense probably benign 0.13
I1329:Dlst UTSW 12 85123841 missense probably damaging 1.00
R0331:Dlst UTSW 12 85118812 missense probably damaging 1.00
R1087:Dlst UTSW 12 85132639 missense probably damaging 1.00
R1218:Dlst UTSW 12 85123864 missense probably damaging 1.00
R3901:Dlst UTSW 12 85132691 missense possibly damaging 0.55
R4705:Dlst UTSW 12 85118842 splice site probably null
R5457:Dlst UTSW 12 85122140 critical splice donor site probably null
R6039:Dlst UTSW 12 85118890 intron probably null
R6039:Dlst UTSW 12 85118890 intron probably null
R6422:Dlst UTSW 12 85130885 splice site probably null
R7078:Dlst UTSW 12 85110931 missense probably benign 0.03
R7366:Dlst UTSW 12 85128315 missense probably benign
R7900:Dlst UTSW 12 85130518 missense probably benign 0.00
R7983:Dlst UTSW 12 85130518 missense probably benign 0.00
Z1177:Dlst UTSW 12 85110893
Posted On2015-04-16