Incidental Mutation 'IGL02120:Dlst'
ID 280538
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 # IGL02120
Quality Score
Status
Chromosome 12
Chromosomal Location 85157597-85180865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85165342 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D2G2
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
Abcb11 T C 2: 69,087,654 (GRCm39) Y1037C probably damaging Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ankrd33b T C 15: 31,367,202 (GRCm39) T113A possibly damaging Het
Aox3 T A 1: 58,166,809 (GRCm39) N177K probably benign Het
Arhgap29 T A 3: 121,797,906 (GRCm39) V532E probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Caskin1 G T 17: 24,719,916 (GRCm39) G401V probably damaging Het
Cemip A T 7: 83,600,771 (GRCm39) M950K probably damaging Het
Cfap107 C T 4: 144,144,981 (GRCm39) R195H probably benign Het
Chrd T C 16: 20,553,291 (GRCm39) V211A probably damaging Het
Ckap2l T C 2: 129,127,542 (GRCm39) N212S possibly damaging Het
Clip1 T C 5: 123,785,946 (GRCm39) D246G probably damaging Het
Dmxl1 T A 18: 50,027,245 (GRCm39) L2118M possibly damaging Het
Dnah7a T C 1: 53,534,876 (GRCm39) K2795E possibly damaging Het
Enpp5 T A 17: 44,391,736 (GRCm39) M55K probably benign Het
Epdr1 A T 13: 19,778,641 (GRCm39) S50T probably damaging Het
Gm7808 T A 9: 19,839,313 (GRCm39) probably benign Het
Huwe1 T A X: 150,690,386 (GRCm39) F2485I possibly damaging Het
Kcnb2 C T 1: 15,780,085 (GRCm39) T319M probably damaging Het
Lama1 G A 17: 68,023,784 (GRCm39) V60M probably damaging Het
Lingo3 A T 10: 80,671,693 (GRCm39) L79Q probably damaging Het
Magi2 T A 5: 20,433,451 (GRCm39) probably null Het
Mob2 C A 7: 141,564,035 (GRCm39) V33L possibly damaging Het
Mus81 G A 19: 5,535,661 (GRCm39) probably benign Het
Nup210l G A 3: 90,044,169 (GRCm39) G490D probably damaging Het
Or13n4 A C 7: 106,422,905 (GRCm39) V276G possibly damaging Het
Pbp2 A G 6: 135,286,816 (GRCm39) V177A probably damaging Het
Pomt2 T C 12: 87,158,326 (GRCm39) D656G probably benign Het
Ppp2r1b A G 9: 50,773,069 (GRCm39) probably benign Het
Prp2rt G T 13: 97,235,285 (GRCm39) probably benign Het
Ptprq T C 10: 107,503,333 (GRCm39) E775G probably damaging Het
Rad54l T C 4: 115,956,181 (GRCm39) I549V probably benign Het
Ranbp10 T C 8: 106,532,214 (GRCm39) Y145C probably damaging Het
Runx1t1 A T 4: 13,846,884 (GRCm39) T223S probably benign Het
Stxbp6 G T 12: 44,948,831 (GRCm39) probably benign Het
Syne2 A G 12: 75,993,480 (GRCm39) D2085G probably damaging Het
Szt2 C T 4: 118,245,761 (GRCm39) R1064Q probably benign Het
Taar3 A G 10: 23,826,065 (GRCm39) T204A probably benign Het
Tdpoz1 A G 3: 93,577,750 (GRCm39) S345P probably damaging Het
Tgm4 T A 9: 122,875,594 (GRCm39) I149N probably damaging Het
Tubal3 T A 13: 3,980,675 (GRCm39) I129N probably damaging Het
Vegfc T C 8: 54,634,436 (GRCm39) F372L possibly damaging Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vwf C A 6: 125,592,997 (GRCm39) L786M probably benign Het
Other mutations in Dlst
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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