Incidental Mutation 'IGL02995:D2hgdh'
| ID |
407107 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
D2hgdh
|
| Ensembl Gene |
ENSMUSG00000073609 |
| Gene Name |
D-2-hydroxyglutarate dehydrogenase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
IGL02995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93752631-93780070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 93757558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 158
(D158Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097633]
[ENSMUST00000112881]
[ENSMUST00000187321]
[ENSMUST00000188532]
[ENSMUST00000189154]
|
| AlphaFold |
Q8CIM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097633
AA Change: D158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609
AA Change: D158Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_4
|
114 |
253 |
2.7e-35 |
PFAM |
|
Pfam:FAD-oxidase_C
|
289 |
530 |
7.3e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112881
AA Change: D180Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609
AA Change: D180Y
| Domain | Start | End | E-Value | Type |
|---|
|
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: D14Y
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188532
AA Change: D14Y
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189154
AA Change: D158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140506
Gene: ENSMUSG00000073609
AA Change: D158Y
| Domain | Start | End | E-Value | Type |
|---|
|
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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,470,456 (GRCm39) |
V175A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,027,176 (GRCm39) |
R603Q |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,206,760 (GRCm39) |
S9P |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,647,477 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
C |
T |
8: 71,935,761 (GRCm39) |
V286I |
possibly damaging |
Het |
| Baz1a |
C |
T |
12: 54,947,232 (GRCm39) |
R1139H |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,452,953 (GRCm39) |
L29H |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,958,535 (GRCm39) |
|
probably benign |
Het |
| C8b |
T |
A |
4: 104,658,525 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,244,608 (GRCm39) |
S1283T |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,584,511 (GRCm39) |
*514W |
probably null |
Het |
| Dennd1b |
G |
A |
1: 139,008,980 (GRCm39) |
V228M |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,881,342 (GRCm39) |
L732* |
probably null |
Het |
| Gm21969 |
G |
A |
4: 139,335,009 (GRCm39) |
G348S |
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,502,895 (GRCm39) |
V323M |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,166 (GRCm39) |
M111L |
probably damaging |
Het |
| Iars2 |
G |
T |
1: 185,035,498 (GRCm39) |
Q581K |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,845,647 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,805 (GRCm39) |
Y228C |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,216 (GRCm39) |
I700M |
probably damaging |
Het |
| Ltb |
A |
T |
17: 35,414,348 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,923,279 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
T |
A |
7: 108,480,198 (GRCm39) |
E205V |
probably damaging |
Het |
| Or11l3 |
A |
G |
11: 58,516,107 (GRCm39) |
M255T |
possibly damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,600 (GRCm39) |
H174Q |
probably damaging |
Het |
| Or1e35 |
G |
A |
11: 73,798,045 (GRCm39) |
T91M |
possibly damaging |
Het |
| Or1j17 |
C |
T |
2: 36,578,644 (GRCm39) |
P210L |
possibly damaging |
Het |
| Pgap1 |
A |
C |
1: 54,532,509 (GRCm39) |
I670S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,530 (GRCm39) |
I362N |
probably damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Prr27 |
T |
C |
5: 87,990,675 (GRCm39) |
S96P |
probably benign |
Het |
| Psip1 |
T |
A |
4: 83,381,954 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,544,084 (GRCm39) |
H285Q |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,191,722 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,540,258 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Snx6 |
T |
C |
12: 54,842,295 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,688 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,627,877 (GRCm39) |
|
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,651,509 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,244,871 (GRCm39) |
I353F |
probably benign |
Het |
|
| Other mutations in D2hgdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02173:D2hgdh
|
APN |
1 |
93,757,611 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02506:D2hgdh
|
APN |
1 |
93,757,507 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT1430001:D2hgdh
|
UTSW |
1 |
93,754,001 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4418001:D2hgdh
|
UTSW |
1 |
93,766,590 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0069:D2hgdh
|
UTSW |
1 |
93,763,009 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0080:D2hgdh
|
UTSW |
1 |
93,754,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0538:D2hgdh
|
UTSW |
1 |
93,754,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2267:D2hgdh
|
UTSW |
1 |
93,763,157 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2268:D2hgdh
|
UTSW |
1 |
93,763,157 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2269:D2hgdh
|
UTSW |
1 |
93,763,157 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4419:D2hgdh
|
UTSW |
1 |
93,757,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:D2hgdh
|
UTSW |
1 |
93,757,620 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6018:D2hgdh
|
UTSW |
1 |
93,754,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6264:D2hgdh
|
UTSW |
1 |
93,754,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6750:D2hgdh
|
UTSW |
1 |
93,754,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6814:D2hgdh
|
UTSW |
1 |
93,763,025 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7058:D2hgdh
|
UTSW |
1 |
93,763,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:D2hgdh
|
UTSW |
1 |
93,765,800 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7683:D2hgdh
|
UTSW |
1 |
93,766,687 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9151:D2hgdh
|
UTSW |
1 |
93,754,338 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2016-08-02 |
Incidental Mutation