Incidental Mutation 'IGL02150:Dlst'
ID281952
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: 0.964) question?
Stock #IGL02150
Quality Score
Status
Chromosome12
Chromosomal Location85110833-85134845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85131033 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000019379
SMART Domains Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235

DomainStartEndE-ValueType
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

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: 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 probably benign
Transcript: ENSMUST00000223332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223438
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,297,859 G918D possibly damaging Het
9530053A07Rik T A 7: 28,146,779 Y965* probably null Het
AI464131 A G 4: 41,499,183 V149A possibly damaging Het
Ankdd1a C T 9: 65,512,719 G92S probably damaging Het
Arid1a A T 4: 133,687,257 M1221K unknown Het
Arl10 G A 13: 54,578,849 V147M probably damaging Het
Bbs4 T C 9: 59,336,368 N152S probably benign Het
Cacna2d2 T G 9: 107,527,316 probably benign Het
Capn9 A G 8: 124,613,843 E582G probably benign Het
Cct2 A T 10: 117,062,099 L61Q probably damaging Het
Clip4 A G 17: 71,799,076 I85V probably damaging Het
Daam2 A T 17: 49,490,304 L151Q possibly damaging Het
Dock7 A T 4: 99,079,852 probably benign Het
Dynlrb2 A G 8: 116,515,710 N93S probably benign Het
Efl1 A G 7: 82,686,691 T407A probably benign Het
Emilin1 A G 5: 30,920,173 D891G possibly damaging Het
Enpp4 A C 17: 44,102,158 S162A probably benign Het
Epas1 A G 17: 86,805,289 D105G probably damaging Het
Gcn1l1 T A 5: 115,609,868 I1778N probably damaging Het
Gm14496 A C 2: 181,991,347 D41A probably damaging Het
Gm7008 T A 12: 40,223,258 probably benign Het
Hcfc2 G A 10: 82,710,018 S246N probably damaging Het
Hectd1 T C 12: 51,769,191 N1366S probably damaging Het
Lgmn T C 12: 102,395,727 R372G possibly damaging Het
Map2k7 A G 8: 4,243,818 M153V possibly damaging Het
Megf8 T A 7: 25,346,417 probably null Het
Mgat4c A C 10: 102,389,122 E399A probably benign Het
Nfat5 C T 8: 107,367,952 Q942* probably null Het
Notch4 A G 17: 34,584,613 E1502G probably damaging Het
Olfr6 G T 7: 106,956,556 P127T probably damaging Het
Olfr895 A T 9: 38,269,268 I252L possibly damaging Het
Optn A C 2: 5,033,152 I410M probably damaging Het
Ppp1ca G A 19: 4,194,699 probably benign Het
Pramel5 C A 4: 144,273,201 L105F possibly damaging Het
Rad54b T A 4: 11,610,502 N706K probably damaging Het
Rgs11 A T 17: 26,202,994 T6S probably benign Het
Sbf1 T C 15: 89,295,480 H1308R probably benign Het
Sec31a T C 5: 100,386,125 probably benign Het
Sh2d5 G A 4: 138,258,242 D334N probably benign Het
Skint5 T A 4: 113,885,791 I360F unknown Het
Slc12a1 G A 2: 125,184,815 D457N probably damaging Het
Slco2a1 C T 9: 103,084,818 A563V probably damaging Het
Snrnp35 G A 5: 124,490,408 A95T probably damaging Het
Snx25 C A 8: 46,116,281 R193L possibly damaging Het
Stxbp5 T G 10: 9,762,821 Q1078P probably damaging Het
Tmc2 A T 2: 130,240,153 I419F probably damaging Het
Tmem87a A T 2: 120,360,076 W525R probably damaging Het
Trhde A T 10: 114,592,108 S428T probably damaging Het
Trp73 G A 4: 154,081,486 A42V possibly damaging Het
Ttn T C 2: 76,848,972 probably benign Het
Ttn C T 2: 76,768,502 V19356M probably damaging Het
Vmn1r170 T A 7: 23,607,040 L289* probably null Het
Vwa5b2 A T 16: 20,604,826 Q1163L probably benign Het
Washc2 T A 6: 116,231,632 probably benign Het
Wdr70 T G 15: 8,082,546 K71T possibly damaging Het
Zbtb41 T C 1: 139,440,448 S625P possibly damaging Het
Zfp518b A G 5: 38,673,789 V291A probably damaging Het
Zfp518b A G 5: 38,673,343 S440P probably damaging Het
Zmym2 G A 14: 56,911,069 probably benign Het
Other mutations in Dlst
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02120:Dlst APN 12 85118568 missense probably benign 0.01
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 splice site probably null
R6039:Dlst UTSW 12 85118890 splice site 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
Z1177:Dlst UTSW 12 85110893 utr 5 prime probably benign
Posted On2015-04-16