Incidental Mutation 'IGL02670:L2hgdh'
| ID |
302905 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
L2hgdh
|
| Ensembl Gene |
ENSMUSG00000020988 |
| Gene Name |
L-2-hydroxyglutarate dehydrogenase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
IGL02670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
69737210-69771648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69739254 bp (GRCm39)
|
| 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]
|
| AlphaFold |
Q91YP0 |
| 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 |
|---|
| Asb1 |
T |
C |
1: 91,474,640 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
| Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
| Fam161b |
T |
C |
12: 84,404,368 (GRCm39) |
D104G |
probably benign |
Het |
| Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
| Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
| Gm572 |
A |
T |
4: 148,735,685 (GRCm39) |
H38L |
probably benign |
Het |
| Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
| Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
| Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
| Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
| Pias4 |
A |
T |
10: 80,999,904 (GRCm39) |
C50S |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,804,445 (GRCm39) |
C92S |
probably benign |
Het |
| Slc2a13 |
C |
T |
15: 91,381,712 (GRCm39) |
G259E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
| Sstr4 |
G |
T |
2: 148,238,453 (GRCm39) |
G355* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,321,174 (GRCm39) |
I94V |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
probably benign |
Het |
|
| Other mutations in L2hgdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:L2hgdh
|
APN |
12 |
69,748,208 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01505:L2hgdh
|
APN |
12 |
69,768,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01871:L2hgdh
|
APN |
12 |
69,768,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02169:L2hgdh
|
APN |
12 |
69,768,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02253:L2hgdh
|
APN |
12 |
69,752,534 (GRCm39) |
splice site |
probably benign |
|
|
IGL03069:L2hgdh
|
APN |
12 |
69,739,173 (GRCm39) |
missense |
probably benign |
|
|
R0054:L2hgdh
|
UTSW |
12 |
69,768,105 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0106:L2hgdh
|
UTSW |
12 |
69,752,563 (GRCm39) |
nonsense |
probably null |
|
|
R0106:L2hgdh
|
UTSW |
12 |
69,752,563 (GRCm39) |
nonsense |
probably null |
|
|
R0579:L2hgdh
|
UTSW |
12 |
69,748,046 (GRCm39) |
splice site |
probably benign |
|
|
R1421:L2hgdh
|
UTSW |
12 |
69,748,092 (GRCm39) |
missense |
probably benign |
|
|
R1797:L2hgdh
|
UTSW |
12 |
69,746,340 (GRCm39) |
missense |
probably benign |
|
|
R3082:L2hgdh
|
UTSW |
12 |
69,768,858 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7640:L2hgdh
|
UTSW |
12 |
69,768,131 (GRCm39) |
nonsense |
probably null |
|
|
R9087:L2hgdh
|
UTSW |
12 |
69,749,131 (GRCm39) |
missense |
probably benign |
|
|
R9582:L2hgdh
|
UTSW |
12 |
69,739,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:L2hgdh
|
UTSW |
12 |
69,753,906 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation