Incidental Mutation 'IGL01109:Ogdh'
| ID |
52314 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ogdh
|
| Ensembl Gene |
ENSMUSG00000020456 |
| Gene Name |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
| Synonyms |
alpha-ketoglutarate dehydrogenase, 2210403E04Rik, 2210412K19Rik, d1401 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6298790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 674
(V674A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
|
| AlphaFold |
Q60597 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003461
AA Change: V678A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: V678A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Transket_pyr
|
131 |
199 |
8e-13 |
BLAST |
|
Pfam:E1_dh
|
256 |
582 |
1.4e-95 |
PFAM |
|
Transket_pyr
|
651 |
865 |
3.44e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081894
AA Change: V674A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: V674A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1_dh
|
252 |
578 |
1e-96 |
PFAM |
|
Transket_pyr
|
647 |
861 |
3.44e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093350
AA Change: V689A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: V689A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-oxogl_dehyd_N
|
47 |
87 |
6.6e-21 |
PFAM |
|
Pfam:E1_dh
|
267 |
593 |
1.1e-101 |
PFAM |
|
Transket_pyr
|
662 |
876 |
3.44e-50 |
SMART |
|
Pfam:OxoGdeHyase_C
|
880 |
1025 |
8.7e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101554
AA Change: V678A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: V678A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Transket_pyr
|
131 |
199 |
8e-13 |
BLAST |
|
Pfam:E1_dh
|
256 |
582 |
1.4e-95 |
PFAM |
|
Transket_pyr
|
651 |
865 |
3.44e-50 |
SMART |
|
| 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 one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
All alleles(34) : Gene trapped(34) |
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,440,211 (GRCm39) |
D861G |
probably benign |
Het |
| Anapc4 |
A |
G |
5: 53,005,970 (GRCm39) |
T326A |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,401,593 (GRCm39) |
I1425M |
probably damaging |
Het |
| Bend5 |
T |
C |
4: 111,305,838 (GRCm39) |
L294P |
probably damaging |
Het |
| Casp7 |
T |
A |
19: 56,425,177 (GRCm39) |
D193E |
probably benign |
Het |
| Cdc16 |
T |
C |
8: 13,814,606 (GRCm39) |
V130A |
probably benign |
Het |
| Chl1 |
T |
G |
6: 103,692,354 (GRCm39) |
Y331D |
probably damaging |
Het |
| Cntn1 |
C |
A |
15: 92,237,458 (GRCm39) |
Y1017* |
probably null |
Het |
| Cyb5d1 |
C |
A |
11: 69,284,610 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
A |
G |
19: 39,451,329 (GRCm39) |
|
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,750,037 (GRCm39) |
M827V |
probably benign |
Het |
| Ehd1 |
T |
A |
19: 6,348,177 (GRCm39) |
M385K |
possibly damaging |
Het |
| Eya3 |
C |
A |
4: 132,420,311 (GRCm39) |
Y52* |
probably null |
Het |
| Itsn1 |
C |
T |
16: 91,603,089 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,952,178 (GRCm39) |
N983I |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,623,035 (GRCm39) |
N1068K |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 60,006,001 (GRCm39) |
N156K |
probably damaging |
Het |
| Nedd9 |
T |
A |
13: 41,469,710 (GRCm39) |
H481L |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,024,588 (GRCm39) |
D484G |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,409 (GRCm39) |
D178G |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,122,864 (GRCm39) |
D84N |
probably benign |
Het |
| Or5b113 |
A |
G |
19: 13,342,063 (GRCm39) |
I24V |
probably benign |
Het |
| Or5d38 |
T |
C |
2: 87,955,023 (GRCm39) |
Q102R |
probably damaging |
Het |
| Or8g53 |
T |
C |
9: 39,683,293 (GRCm39) |
M268V |
probably benign |
Het |
| Or8k32 |
T |
A |
2: 86,368,674 (GRCm39) |
D195V |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,379,871 (GRCm39) |
T154A |
probably damaging |
Het |
| P2rx1 |
T |
C |
11: 72,899,041 (GRCm39) |
V84A |
probably damaging |
Het |
| Pcdh11x |
G |
A |
X: 119,310,611 (GRCm39) |
V685I |
possibly damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,138,288 (GRCm39) |
V212E |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,101,243 (GRCm39) |
D2249G |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,742,254 (GRCm39) |
S317T |
possibly damaging |
Het |
| Ssc5d |
T |
A |
7: 4,940,111 (GRCm39) |
L822* |
probably null |
Het |
| Swt1 |
A |
G |
1: 151,286,890 (GRCm39) |
S201P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,715,553 (GRCm39) |
M81L |
probably benign |
Het |
| Tex9 |
T |
A |
9: 72,395,349 (GRCm39) |
N39I |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,520,360 (GRCm39) |
Y378C |
probably damaging |
Het |
| Ubap2 |
T |
C |
4: 41,195,155 (GRCm39) |
N1131S |
probably damaging |
Het |
| Ugt2b35 |
C |
T |
5: 87,156,165 (GRCm39) |
T419I |
probably damaging |
Het |
| Ugt3a1 |
T |
G |
15: 9,367,354 (GRCm39) |
F366V |
probably damaging |
Het |
| Zfp324 |
A |
G |
7: 12,703,362 (GRCm39) |
T95A |
probably benign |
Het |
|
| Other mutations in Ogdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01503:Ogdh
|
APN |
11 |
6,305,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01684:Ogdh
|
APN |
11 |
6,292,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Ogdh
|
APN |
11 |
6,305,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02313:Ogdh
|
APN |
11 |
6,305,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02818:Ogdh
|
APN |
11 |
6,298,270 (GRCm39) |
missense |
probably benign |
|
|
N/A - 535:Ogdh
|
UTSW |
11 |
6,274,911 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
PIT4498001:Ogdh
|
UTSW |
11 |
6,290,504 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0328:Ogdh
|
UTSW |
11 |
6,297,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0505:Ogdh
|
UTSW |
11 |
6,289,936 (GRCm39) |
splice site |
probably benign |
|
|
R0627:Ogdh
|
UTSW |
11 |
6,297,216 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1119:Ogdh
|
UTSW |
11 |
6,290,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Ogdh
|
UTSW |
11 |
6,297,827 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1591:Ogdh
|
UTSW |
11 |
6,299,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Ogdh
|
UTSW |
11 |
6,288,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Ogdh
|
UTSW |
11 |
6,290,438 (GRCm39) |
splice site |
probably benign |
|
|
R1959:Ogdh
|
UTSW |
11 |
6,296,638 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2004:Ogdh
|
UTSW |
11 |
6,284,626 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2080:Ogdh
|
UTSW |
11 |
6,299,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2384:Ogdh
|
UTSW |
11 |
6,292,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Ogdh
|
UTSW |
11 |
6,298,678 (GRCm39) |
missense |
probably benign |
|
|
R2883:Ogdh
|
UTSW |
11 |
6,284,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Ogdh
|
UTSW |
11 |
6,299,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Ogdh
|
UTSW |
11 |
6,288,627 (GRCm39) |
nonsense |
probably null |
|
|
R3933:Ogdh
|
UTSW |
11 |
6,292,601 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3939:Ogdh
|
UTSW |
11 |
6,300,655 (GRCm39) |
nonsense |
probably null |
|
|
R4296:Ogdh
|
UTSW |
11 |
6,299,374 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4393:Ogdh
|
UTSW |
11 |
6,266,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4427:Ogdh
|
UTSW |
11 |
6,305,421 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4667:Ogdh
|
UTSW |
11 |
6,290,600 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4669:Ogdh
|
UTSW |
11 |
6,290,600 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4728:Ogdh
|
UTSW |
11 |
6,292,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Ogdh
|
UTSW |
11 |
6,247,044 (GRCm39) |
missense |
probably benign |
|
|
R4785:Ogdh
|
UTSW |
11 |
6,299,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Ogdh
|
UTSW |
11 |
6,290,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5333:Ogdh
|
UTSW |
11 |
6,302,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5592:Ogdh
|
UTSW |
11 |
6,266,763 (GRCm39) |
splice site |
probably null |
|
|
R6318:Ogdh
|
UTSW |
11 |
6,299,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6875:Ogdh
|
UTSW |
11 |
6,290,477 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6988:Ogdh
|
UTSW |
11 |
6,263,806 (GRCm39) |
nonsense |
probably null |
|
|
R7406:Ogdh
|
UTSW |
11 |
6,298,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7724:Ogdh
|
UTSW |
11 |
6,274,887 (GRCm39) |
missense |
probably benign |
|
|
R7763:Ogdh
|
UTSW |
11 |
6,288,558 (GRCm39) |
missense |
probably benign |
|
|
R7909:Ogdh
|
UTSW |
11 |
6,263,965 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8207:Ogdh
|
UTSW |
11 |
6,299,329 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8348:Ogdh
|
UTSW |
11 |
6,292,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8401:Ogdh
|
UTSW |
11 |
6,247,174 (GRCm39) |
nonsense |
probably null |
|
|
R8448:Ogdh
|
UTSW |
11 |
6,292,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8770:Ogdh
|
UTSW |
11 |
6,305,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Ogdh
|
UTSW |
11 |
6,297,129 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9132:Ogdh
|
UTSW |
11 |
6,290,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9328:Ogdh
|
UTSW |
11 |
6,297,838 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9479:Ogdh
|
UTSW |
11 |
6,297,854 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9696:Ogdh
|
UTSW |
11 |
6,289,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ogdh
|
UTSW |
11 |
6,305,427 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ogdh
|
UTSW |
11 |
6,266,982 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Ogdh
|
UTSW |
11 |
6,247,051 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation