Incidental Mutation 'IGL02506:D2hgdh'
ID296336
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 #IGL02506
Quality Score
Status
Chromosome1
Chromosomal Location93824909-93852348 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93829785 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 141 (N141D)
Ref Sequence ENSEMBL: ENSMUSP00000140506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097633] [ENSMUST00000112881] [ENSMUST00000187321] [ENSMUST00000188532] [ENSMUST00000189154]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097633
AA Change: N141D

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609
AA Change: N141D

DomainStartEndE-ValueType
Pfam:FAD_binding_4 114 253 2.7e-35 PFAM
Pfam:FAD-oxidase_C 289 530 7.3e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112881
AA Change: N163D

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609
AA Change: N163D

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 probably benign
Transcript: ENSMUST00000186783
Predicted Effect probably benign
Transcript: ENSMUST00000187321
Predicted Effect probably benign
Transcript: ENSMUST00000188532
Predicted Effect probably damaging
Transcript: ENSMUST00000189154
AA Change: N141D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140506
Gene: ENSMUSG00000073609
AA Change: N141D

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,692,488 E189G possibly damaging Het
Acad11 T C 9: 104,091,732 probably null Het
Adcy7 G T 8: 88,317,943 R488L probably damaging Het
Akt1 C T 12: 112,659,280 probably benign Het
Ano9 C T 7: 141,102,254 probably benign Het
Arhgap15 A G 2: 44,063,808 D182G possibly damaging Het
Asxl3 T A 18: 22,452,399 V127D probably benign Het
Cacna1g A G 11: 94,429,129 M1407T probably damaging Het
Card9 A C 2: 26,354,415 probably benign Het
Cdh5 A G 8: 104,137,822 N472D probably damaging Het
Ceacam2 T A 7: 25,527,954 T343S probably benign Het
Cic T A 7: 25,290,857 C1928S probably benign Het
Clk3 C T 9: 57,754,644 W31* probably null Het
Cntn4 A G 6: 106,618,388 T489A probably benign Het
Crispld1 G A 1: 17,756,305 R431H probably damaging Het
Crmp1 T A 5: 37,278,855 probably benign Het
Cyld A G 8: 88,729,590 T423A possibly damaging Het
Cyp3a44 A T 5: 145,799,388 I84N probably damaging Het
Dip2b T A 15: 100,157,281 L341Q probably damaging Het
F3 C T 3: 121,731,674 T53I possibly damaging Het
Fam227b T A 2: 126,003,911 Y386F probably benign Het
Fmn1 A T 2: 113,525,295 T694S unknown Het
Gcnt2 T A 13: 40,887,380 V5E probably benign Het
Herpud1 G T 8: 94,394,642 E355* probably null Het
Igf1r T C 7: 68,193,396 S752P probably benign Het
Iqsec1 T C 6: 90,672,075 I687V possibly damaging Het
Kdm5a T C 6: 120,432,149 S1598P probably damaging Het
Klk9 A G 7: 43,795,639 E185G probably benign Het
Myo16 G T 8: 10,390,217 R423L probably damaging Het
Myo7b T C 18: 31,967,154 E1609G probably damaging Het
Nom1 T A 5: 29,439,816 probably benign Het
Nomo1 A G 7: 46,078,056 I1040V possibly damaging Het
Olfr887 G A 9: 38,085,445 G203D probably damaging Het
Paqr9 T C 9: 95,560,695 V246A probably benign Het
Pfkfb4 A T 9: 109,030,336 D437V probably benign Het
Phldb1 G T 9: 44,710,926 D797E probably benign Het
Pkd1l3 A G 8: 109,647,500 E1399G probably damaging Het
Plekhs1 G A 19: 56,471,766 C97Y probably damaging Het
Plscr4 A T 9: 92,489,991 I272L possibly damaging Het
Prlhr A C 19: 60,467,928 Y67D probably damaging Het
Rab3gap2 A G 1: 185,252,024 probably benign Het
Rad23b T C 4: 55,382,511 V238A probably benign Het
Sel1l2 T C 2: 140,275,460 T164A possibly damaging Het
Serpinh1 T A 7: 99,346,992 K295M probably damaging Het
Slc45a4 T C 15: 73,581,838 E770G probably benign Het
Spag4 T C 2: 156,069,222 L390P probably damaging Het
Stip1 A G 19: 7,035,489 probably benign Het
Tacr1 A G 6: 82,403,758 N50S probably damaging Het
Tg T C 15: 66,741,594 V433A possibly damaging Het
Ubap1l T A 9: 65,369,211 probably benign Het
Usp40 A T 1: 87,982,016 I572K probably damaging Het
Vps13b G T 15: 35,917,162 E3717D probably damaging Het
Wdr81 T C 11: 75,444,406 N1778S probably benign Het
Ylpm1 T A 12: 85,049,191 F1162Y probably damaging Het
Zbtb10 T A 3: 9,265,237 F552I probably damaging Het
Zfp507 T C 7: 35,776,466 I811V probably damaging Het
Zfp663 A T 2: 165,353,951 V116D probably benign Het
Other mutations in D2hgdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:D2hgdh APN 1 93829889 missense probably benign 0.06
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