Incidental Mutation 'R4393:Ogdh'
| ID |
326481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogdh
|
| Ensembl Gene |
ENSMUSG00000020456 |
| Gene Name |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
| Synonyms |
alpha-ketoglutarate dehydrogenase, 2210403E04Rik, 2210412K19Rik, d1401 |
| MMRRC Submission |
041128-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6266772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 141
(G141D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
[ENSMUST00000135124]
[ENSMUST00000140765]
|
| AlphaFold |
Q60597 |
| PDB Structure |
Structure of the m67 high-affinity mutant of the 2C TCR in complex with Ld/QL9 [X-RAY DIFFRACTION]
42F3 QL9/H2-Ld complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003461
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
| 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: G141D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: G141D
| 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: G141D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: G141D
| 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 benign
Transcript: ENSMUST00000101554
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
| 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 benign
Transcript: ENSMUST00000135124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140765
|
| Meta Mutation Damage Score |
0.5076 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
95% (71/75) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
C |
A |
9: 3,134,944 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,665,222 (GRCm39) |
V1353A |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,188,544 (GRCm39) |
N620K |
probably benign |
Het |
| Clcnkb |
A |
G |
4: 141,139,547 (GRCm39) |
S152P |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
G |
A |
19: 37,675,105 (GRCm39) |
R142H |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,228,057 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
T |
C |
6: 145,140,304 (GRCm39) |
T166A |
possibly damaging |
Het |
| Ebf3 |
C |
T |
7: 136,826,886 (GRCm39) |
R342H |
probably damaging |
Het |
| Ece2 |
T |
C |
16: 20,451,598 (GRCm39) |
V380A |
probably damaging |
Het |
| Epb41l4a |
C |
T |
18: 34,024,473 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
G |
T |
10: 128,408,639 (GRCm39) |
Q815K |
probably damaging |
Het |
| Ercc3 |
T |
A |
18: 32,398,674 (GRCm39) |
M651K |
probably benign |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
C |
6: 15,377,689 (GRCm39) |
|
probably benign |
Het |
| Gdf10 |
T |
C |
14: 33,654,695 (GRCm39) |
Y401H |
probably damaging |
Het |
| Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
| Gm6408 |
A |
T |
5: 146,419,147 (GRCm39) |
D54V |
probably damaging |
Het |
| H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,751,583 (GRCm39) |
E403G |
unknown |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
A |
9: 44,293,169 (GRCm39) |
V125E |
probably damaging |
Het |
| Il11ra1 |
T |
C |
4: 41,768,577 (GRCm39) |
|
probably null |
Het |
| Immt |
T |
A |
6: 71,849,784 (GRCm39) |
S435T |
probably benign |
Het |
| Kcnip2 |
A |
G |
19: 45,800,669 (GRCm39) |
L19P |
probably benign |
Het |
| Kctd2 |
T |
C |
11: 115,320,326 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,754,482 (GRCm39) |
T4666M |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,978,676 (GRCm39) |
E350G |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,467,866 (GRCm39) |
K373N |
probably damaging |
Het |
| Nr5a1 |
T |
C |
2: 38,584,231 (GRCm39) |
E396G |
probably damaging |
Het |
| Or10q1b |
T |
C |
19: 13,682,554 (GRCm39) |
I121T |
possibly damaging |
Het |
| Or2h2c |
T |
C |
17: 37,424,971 (GRCm39) |
|
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,476,256 (GRCm39) |
C70* |
probably null |
Het |
| Orc2 |
C |
A |
1: 58,506,809 (GRCm39) |
|
probably null |
Het |
| P4ha3 |
C |
T |
7: 99,954,814 (GRCm39) |
P291S |
probably benign |
Het |
| Pign |
T |
C |
1: 105,449,751 (GRCm39) |
K925R |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,267,791 (GRCm39) |
S727P |
possibly damaging |
Het |
| Prr36 |
G |
T |
8: 4,264,901 (GRCm39) |
|
probably benign |
Het |
| Prrt3 |
A |
G |
6: 113,471,907 (GRCm39) |
L755P |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,808,502 (GRCm39) |
H89R |
probably damaging |
Het |
| Sgms2 |
A |
T |
3: 131,135,466 (GRCm39) |
|
probably null |
Het |
| Slc35d3 |
T |
C |
10: 19,725,352 (GRCm39) |
|
probably null |
Het |
| Slu7 |
T |
A |
11: 43,330,096 (GRCm39) |
N174K |
possibly damaging |
Het |
| Teddm1a |
G |
T |
1: 153,768,192 (GRCm39) |
D219Y |
probably damaging |
Het |
| Tgtp1 |
C |
A |
11: 48,878,450 (GRCm39) |
G85V |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,759,242 (GRCm39) |
T169A |
probably benign |
Het |
| Tmem69 |
C |
T |
4: 116,411,964 (GRCm39) |
|
probably null |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Vwa3b |
T |
C |
1: 37,084,259 (GRCm39) |
V144A |
probably damaging |
Het |
| Zdhhc21 |
A |
G |
4: 82,765,891 (GRCm39) |
C15R |
possibly damaging |
Het |
| Zfp142 |
T |
C |
1: 74,611,219 (GRCm39) |
T756A |
probably benign |
Het |
| Zfp606 |
C |
T |
7: 12,226,776 (GRCm39) |
S241F |
probably damaging |
Het |
| Zfp804a |
A |
T |
2: 82,087,265 (GRCm39) |
T365S |
probably benign |
Het |
|
| Other mutations in Ogdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Ogdh
|
APN |
11 |
6,298,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTGCAAGGATCCCAGG -3'
(R):5'- CTATGAGTGGGCCAACGATG -3'
Sequencing Primer
(F):5'- GAGAGGTCTAGAGTTCAATTCTCAGC -3'
(R):5'- TGGGCCAACGATGAGAGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation