Incidental Mutation 'IGL02173:D2hgdh'
| ID |
282967 |
| 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 # |
IGL02173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93752631-93780070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93757611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 175
(D175E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097633]
[ENSMUST00000112881]
[ENSMUST00000187321]
[ENSMUST00000188532]
[ENSMUST00000189154]
|
| AlphaFold |
Q8CIM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097633
AA Change: D175E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000095235
Gene: ENSMUSG00000073609
AA Change: D175E
| 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 benign
Transcript: ENSMUST00000112881
AA Change: D197E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108502
Gene: ENSMUSG00000073609
AA Change: D197E
| 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: D31E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188532
AA Change: D31E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189154
AA Change: D175E
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140506
Gene: ENSMUSG00000073609
AA Change: D175E
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,061,754 (GRCm39) |
H68L |
possibly damaging |
Het |
| 4930533K18Rik |
A |
G |
10: 70,708,060 (GRCm39) |
|
noncoding transcript |
Het |
| 4933409G03Rik |
A |
G |
2: 68,443,401 (GRCm39) |
T182A |
unknown |
Het |
| Abca2 |
T |
A |
2: 25,331,909 (GRCm39) |
D1340E |
probably benign |
Het |
| Abcc12 |
G |
A |
8: 87,293,071 (GRCm39) |
A39V |
probably damaging |
Het |
| Acap2 |
T |
C |
16: 30,926,965 (GRCm39) |
R510G |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,879,817 (GRCm39) |
R719L |
probably benign |
Het |
| Adarb1 |
A |
C |
10: 77,157,659 (GRCm39) |
F263V |
probably damaging |
Het |
| Ahcyl |
T |
C |
16: 45,974,441 (GRCm39) |
N312S |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,748,013 (GRCm39) |
S1130P |
probably benign |
Het |
| Aqp7 |
A |
T |
4: 41,034,379 (GRCm39) |
L260* |
probably null |
Het |
| Cntn5 |
G |
T |
9: 9,748,401 (GRCm39) |
S493R |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,080,165 (GRCm39) |
F138S |
probably damaging |
Het |
| Dtx4 |
G |
T |
19: 12,450,621 (GRCm39) |
Y530* |
probably null |
Het |
| Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,225,690 (GRCm39) |
D218G |
possibly damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,258 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
C |
T |
15: 6,610,176 (GRCm39) |
P250S |
probably benign |
Het |
| Gaa |
A |
G |
11: 119,165,739 (GRCm39) |
Y84C |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,325,365 (GRCm39) |
S262R |
probably damaging |
Het |
| Gfus |
A |
G |
15: 75,798,034 (GRCm39) |
S233P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,663,906 (GRCm39) |
I345T |
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,934,717 (GRCm39) |
V671A |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 51,598,208 (GRCm39) |
L179F |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,826,318 (GRCm39) |
L1089P |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,357,743 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,949 (GRCm39) |
M83T |
possibly damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,037 (GRCm39) |
P291S |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,691 (GRCm39) |
V240A |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,378 (GRCm39) |
T74A |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,165 (GRCm39) |
|
probably benign |
Het |
| Pcbd1 |
A |
G |
10: 60,927,983 (GRCm39) |
|
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,264,248 (GRCm39) |
V164A |
possibly damaging |
Het |
| Pgd |
A |
G |
4: 149,241,210 (GRCm39) |
I233T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,330 (GRCm39) |
H733L |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,574,206 (GRCm39) |
N205K |
probably benign |
Het |
| Sstr2 |
G |
T |
11: 113,515,842 (GRCm39) |
V254L |
probably damaging |
Het |
| Tm9sf2 |
G |
T |
14: 122,380,835 (GRCm39) |
V308F |
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,501,776 (GRCm39) |
K34E |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,164,381 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,117 (GRCm39) |
S167P |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,759 (GRCm39) |
I413N |
probably damaging |
Het |
|
| Other mutations in D2hgdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02506:D2hgdh
|
APN |
1 |
93,757,507 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02995:D2hgdh
|
APN |
1 |
93,757,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation