Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02670:L2hgdh'

302905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

L2hgdh

Ensembl Gene

ENSMUSG00000020988

Gene Name

L-2-hydroxyglutarate dehydrogenase

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

IGL02670

Quality Score

Status

Chromosome

Chromosomal Location

69690433-69724873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69692480 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 406 (R406W)

Ref Sequence

ENSEMBL: ENSMUSP00000021370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021370]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021370
AA Change: R406W

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021370
Gene: ENSMUSG00000020988
AA Change: R406W

Domain	Start	End	E-Value	Type
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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,967,305	Q2193*	probably null	Het
Asb1	T	C	1: 91,546,918		probably benign	Het
Cnot6	G	A	11: 49,685,114	Q178*	probably null	Het
Col5a1	C	T	2: 27,974,715	A737V	unknown	Het
Cyp27b1	T	C	10: 127,050,358	S303P	probably benign	Het
Dnah5	T	C	15: 28,409,296	L3620P	probably damaging	Het
Dock7	A	T	4: 98,966,286		probably null	Het
Fam161b	T	C	12: 84,357,594	D104G	probably benign	Het
Fam8a1	A	G	13: 46,673,604	M284V	possibly damaging	Het
Fkbp3	T	A	12: 65,069,103	K65*	probably null	Het
Gatb	A	G	3: 85,613,551		probably null	Het
Gm572	A	T	4: 148,651,228	H38L	probably benign	Het
Gm6576	A	C	15: 27,025,512		noncoding transcript	Het
Lmo7	A	T	14: 101,880,980	T214S	probably damaging	Het
Map3k12	T	C	15: 102,503,546	H361R	probably benign	Het
Mios	T	C	6: 8,235,378		probably benign	Het
Mta1	T	C	12: 113,130,121	L315P	probably damaging	Het
Pask	A	C	1: 93,310,818	V1315G	probably damaging	Het
Pias4	A	T	10: 81,164,070	C50S	probably damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Sgk1	T	A	10: 21,928,546	C92S	probably benign	Het
Slc2a13	C	T	15: 91,497,509	G259E	probably damaging	Het
Slc5a4b	A	G	10: 76,075,100	C301R	probably damaging	Het
Sstr4	G	T	2: 148,396,533	G355*	probably null	Het
Tnrc6a	T	A	7: 123,171,312	L775Q	possibly damaging	Het
Vmn1r218	A	G	13: 23,137,004	I94V	probably benign	Het
Xpa	A	G	4: 46,185,682	F99L	probably benign	Het

Other mutations in L2hgdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03069:L2hgdh	APN	12	69692399	missense	probably benign
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 On

2015-04-16