Incidental Mutation 'IGL03069:L2hgdh'
ID409829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L2hgdh
Ensembl Gene ENSMUSG00000020988
Gene NameL-2-hydroxyglutarate dehydrogenase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL03069
Quality Score
Status
Chromosome12
Chromosomal Location69690433-69724873 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 69692399 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 433 (V433I)
Ref Sequence ENSEMBL: ENSMUSP00000021370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021370]
Predicted Effect probably benign
Transcript: ENSMUST00000021370
AA Change: V433I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021370
Gene: ENSMUSG00000020988
AA Change: V433I

DomainStartEndE-ValueType
low complexity region 39 49 N/A INTRINSIC
Pfam:DAO 51 457 1.9e-72 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 L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit increased levels of lysine and arginine associated with decreases in saccharopine, glutamine, and glutamate in adult brains, neurobehavioral deficits, and brain spongiosis with vacuolar lesions mostly affecting oligodendrocytes and myelin sheaths. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T G 8: 13,557,704 probably null Het
Acpp T C 9: 104,320,005 E145G possibly damaging Het
Ankrd28 T A 14: 31,755,786 K42* probably null Het
Arsg A T 11: 109,563,256 K429N probably damaging Het
Bsn G A 9: 108,114,263 T1430I probably damaging Het
Calu A G 6: 29,356,583 D36G possibly damaging Het
Ccdc18 T C 5: 108,228,901 S1403P probably damaging Het
Cdca2 A G 14: 67,714,936 probably benign Het
Cfh C A 1: 140,099,055 probably benign Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dennd4c C A 4: 86,774,437 Y61* probably null Het
Diaph3 A G 14: 86,772,119 S1075P probably damaging Het
Dpp7 T A 2: 25,355,723 probably null Het
Dtd1 T A 2: 144,747,061 probably benign Het
Dtl C A 1: 191,556,896 probably benign Het
Exoc3l4 A G 12: 111,424,023 D344G probably damaging Het
Hsp90ab1 A T 17: 45,569,028 C159S possibly damaging Het
Kcnip2 T C 19: 45,796,271 probably benign Het
Krba1 A G 6: 48,414,549 T755A possibly damaging Het
Lamc1 A T 1: 153,239,381 L1050I probably damaging Het
Lgals4 A T 7: 28,840,918 I213L probably benign Het
Lysmd1 A G 3: 95,137,634 I64V probably damaging Het
Mfsd4b4 A C 10: 39,892,315 C261G probably benign Het
Mrgprb3 T A 7: 48,643,450 I118F possibly damaging Het
Mtmr2 T A 9: 13,793,205 Y137* probably null Het
Ofcc1 A T 13: 40,072,664 H797Q probably benign Het
Olfr1176 C T 2: 88,340,299 probably null Het
Olfr935 A T 9: 38,995,432 M1K probably null Het
Omd A T 13: 49,592,394 probably benign Het
Polr3a T A 14: 24,461,740 D916V probably damaging Het
Prpf38a T C 4: 108,575,431 Y117C probably damaging Het
Scn11a C T 9: 119,789,963 G771D probably benign Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Snx1 T A 9: 66,094,624 I306F probably benign Het
Snx31 T A 15: 36,525,603 R317* probably null Het
Sorl1 T C 9: 41,991,426 T1612A probably benign Het
Spag1 G T 15: 36,224,099 probably benign Het
Sssca1 G T 19: 5,730,422 L183I possibly damaging Het
Stambp A G 6: 83,561,932 F162S probably damaging Het
Tkfc T A 19: 10,599,154 M122L probably benign Het
Tnni3k T A 3: 154,941,605 probably null Het
Trim56 T C 5: 137,113,762 Q300R probably damaging Het
Ttc24 T A 3: 88,070,101 T113S probably benign Het
Xirp2 A T 2: 67,509,532 T706S possibly damaging Het
Yipf5 T A 18: 40,206,237 probably benign Het
Zfp202 T C 9: 40,211,399 S486P probably damaging Het
Zfp407 A G 18: 84,350,975 S1676P probably damaging Het
Other mutations in L2hgdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:L2hgdh APN 12 69701434 missense possibly damaging 0.67
IGL01505:L2hgdh APN 12 69721401 missense probably damaging 1.00
IGL01871:L2hgdh APN 12 69722095 missense probably damaging 1.00
IGL02169:L2hgdh APN 12 69721397 missense probably damaging 1.00
IGL02253:L2hgdh APN 12 69705760 splice site probably benign
IGL02670:L2hgdh APN 12 69692480 missense possibly damaging 0.86
R0054:L2hgdh UTSW 12 69721331 missense possibly damaging 0.82
R0106:L2hgdh UTSW 12 69705789 nonsense probably null
R0106:L2hgdh UTSW 12 69705789 nonsense probably null
R0579:L2hgdh UTSW 12 69701272 splice site probably benign
R1421:L2hgdh UTSW 12 69701318 missense probably benign
R1797:L2hgdh UTSW 12 69699566 missense probably benign
R3082:L2hgdh UTSW 12 69722084 missense probably benign 0.00
R7640:L2hgdh UTSW 12 69721357 nonsense probably null
Z1176:L2hgdh UTSW 12 69707132 missense probably benign 0.02
Posted On2016-08-02