Incidental Mutation 'IGL02173:D2hgdh'
ID282967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D2hgdh
Ensembl Gene ENSMUSG00000073609
Gene NameD-2-hydroxyglutarate dehydrogenase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL02173
Quality Score
Status
Chromosome1
Chromosomal Location93824909-93852348 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 93829889 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 175 (D175E)
Ref Sequence ENSEMBL: ENSMUSP00000140506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097633] [ENSMUST00000112881] [ENSMUST00000187321] [ENSMUST00000188532] [ENSMUST00000189154]
Predicted Effect probably benign
Transcript: ENSMUST00000097633
AA Change: D175E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609
AA Change: D175E

DomainStartEndE-ValueType
Pfam:FAD_binding_4 114 253 2.7e-35 PFAM
Pfam:FAD-oxidase_C 289 530 7.3e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112881
AA Change: D197E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609
AA Change: D197E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:FAD_binding_4 136 275 7e-36 PFAM
Pfam:FAD-oxidase_C 311 552 4.1e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149397
Predicted Effect unknown
Transcript: ENSMUST00000186783
AA Change: D31E
Predicted Effect probably benign
Transcript: ENSMUST00000187321
Predicted Effect probably benign
Transcript: ENSMUST00000188532
AA Change: D31E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000189154
AA Change: D175E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140506
Gene: ENSMUSG00000073609
AA Change: D175E

DomainStartEndE-ValueType
Pfam:FAD_binding_4 114 179 3.2e-10 PFAM
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 D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,225,892 H68L possibly damaging Het
4930533K18Rik A G 10: 70,872,230 noncoding transcript Het
4933409G03Rik A G 2: 68,613,057 T182A unknown Het
Abca2 T A 2: 25,441,897 D1340E probably benign Het
Abcc12 G A 8: 86,566,442 A39V probably damaging Het
Acap2 T C 16: 31,108,147 R510G possibly damaging Het
Ace G T 11: 105,988,991 R719L probably benign Het
Adarb1 A C 10: 77,321,825 F263V probably damaging Het
Ambra1 T C 2: 91,917,668 S1130P probably benign Het
Aqp7 A T 4: 41,034,379 L260* probably null Het
Cntn5 G T 9: 9,748,396 S493R probably damaging Het
Crhr2 A G 6: 55,103,180 F138S probably damaging Het
Dtx4 G T 19: 12,473,257 Y530* probably null Het
Elp4 T A 2: 105,702,743 H419L probably damaging Het
Etv6 A G 6: 134,248,727 D218G possibly damaging Het
Exoc5 A G 14: 49,034,801 probably benign Het
Fyb C T 15: 6,580,695 P250S probably benign Het
Gaa A G 11: 119,274,913 Y84C probably damaging Het
Galns A T 8: 122,598,626 S262R probably damaging Het
Gm4737 T C 16: 46,154,078 N312S probably benign Het
Kctd16 T C 18: 40,530,853 I345T probably benign Het
Lats2 A G 14: 57,697,260 V671A probably damaging Het
Maml3 C A 3: 51,690,787 L179F probably damaging Het
Myo1f T C 17: 33,607,344 L1089P probably damaging Het
Nadsyn1 A T 7: 143,804,006 probably benign Het
Olfr1502 A G 19: 13,862,014 T74A probably benign Het
Olfr39 T C 9: 20,286,395 V240A probably benign Het
Olfr394 A G 11: 73,888,123 M83T possibly damaging Het
Olfr639 G A 7: 104,011,830 P291S probably damaging Het
Otog T C 7: 46,276,741 probably benign Het
Pcbd1 A G 10: 61,092,204 probably benign Het
Pced1a A G 2: 130,422,328 V164A possibly damaging Het
Pgd A G 4: 149,156,753 I233T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sec24d A T 3: 123,353,681 H733L probably damaging Het
Slc1a2 T A 2: 102,743,861 N205K probably benign Het
Sstr2 G T 11: 113,625,016 V254L probably damaging Het
Tm9sf2 G T 14: 122,143,423 V308F probably benign Het
Tor3a T C 1: 156,674,206 K34E probably benign Het
Tsta3 A G 15: 75,926,185 S233P probably damaging Het
Ubr4 T A 4: 139,437,070 probably null Het
Vmn1r56 A G 7: 5,196,118 S167P probably damaging Het
Zswim3 T A 2: 164,820,839 I413N probably damaging Het
Other mutations in D2hgdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02506:D2hgdh APN 1 93829785 missense probably damaging 0.98
IGL02995:D2hgdh APN 1 93829836 missense probably damaging 1.00
PIT1430001:D2hgdh UTSW 1 93826279 unclassified probably benign
PIT4418001:D2hgdh UTSW 1 93838868 missense possibly damaging 0.90
R0069:D2hgdh UTSW 1 93835287 missense possibly damaging 0.93
R0080:D2hgdh UTSW 1 93826455 missense probably damaging 0.97
R0538:D2hgdh UTSW 1 93826377 missense probably damaging 0.97
R2267:D2hgdh UTSW 1 93835435 missense probably damaging 0.97
R2268:D2hgdh UTSW 1 93835435 missense probably damaging 0.97
R2269:D2hgdh UTSW 1 93835435 missense probably damaging 0.97
R4419:D2hgdh UTSW 1 93829813 missense probably damaging 1.00
R5322:D2hgdh UTSW 1 93829898 critical splice donor site probably null
R6018:D2hgdh UTSW 1 93826460 missense probably benign 0.03
R6264:D2hgdh UTSW 1 93826455 missense probably damaging 0.97
R6750:D2hgdh UTSW 1 93826407 missense probably benign 0.01
R6814:D2hgdh UTSW 1 93835303 missense possibly damaging 0.94
R7058:D2hgdh UTSW 1 93835374 missense probably damaging 1.00
R7473:D2hgdh UTSW 1 93838078 missense probably damaging 0.96
R7683:D2hgdh UTSW 1 93838965 critical splice donor site probably null
Posted On2015-04-16