Incidental Mutation 'R1480:Ogdh'
| ID |
164318 |
| 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 |
039533-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1480 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 6297827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
|
| AlphaFold |
Q60597 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000081894
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
| 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 null
Transcript: ENSMUST00000093350
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
| 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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,323,409 (GRCm39) |
R126C |
possibly damaging |
Het |
| Abcb9 |
C |
A |
5: 124,216,889 (GRCm39) |
A443S |
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,262,171 (GRCm39) |
M1074V |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,454 (GRCm39) |
Y614H |
probably damaging |
Het |
| Agbl4 |
G |
A |
4: 111,423,914 (GRCm39) |
M313I |
possibly damaging |
Het |
| AI987944 |
T |
C |
7: 41,024,343 (GRCm39) |
D212G |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,448 (GRCm39) |
S537P |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,826,472 (GRCm39) |
R1031* |
probably null |
Het |
| Arid1a |
A |
G |
4: 133,407,700 (GRCm39) |
M2269T |
unknown |
Het |
| Ash1l |
C |
A |
3: 88,892,359 (GRCm39) |
P1413T |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,617 (GRCm39) |
I279L |
probably damaging |
Het |
| Camkk2 |
T |
C |
5: 122,872,341 (GRCm39) |
|
probably null |
Het |
| Ccdc158 |
T |
C |
5: 92,796,903 (GRCm39) |
K478E |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 94,000,782 (GRCm39) |
I121V |
probably benign |
Het |
| Chad |
A |
T |
11: 94,455,963 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
T |
C |
10: 76,545,752 (GRCm39) |
I907V |
unknown |
Het |
| Cpe |
T |
A |
8: 65,047,969 (GRCm39) |
T432S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,595,325 (GRCm39) |
T1941A |
possibly damaging |
Het |
| Dennd3 |
G |
A |
15: 73,404,695 (GRCm39) |
V257I |
probably benign |
Het |
| Dnajc21 |
T |
C |
15: 10,460,037 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
A |
G |
6: 83,036,433 (GRCm39) |
R146G |
possibly damaging |
Het |
| Etf1 |
T |
C |
18: 35,042,276 (GRCm39) |
E261G |
probably damaging |
Het |
| Fermt2 |
C |
T |
14: 45,699,244 (GRCm39) |
V617I |
possibly damaging |
Het |
| Gabarap |
T |
C |
11: 69,882,551 (GRCm39) |
Y5H |
probably damaging |
Het |
| Gdap1 |
A |
G |
1: 17,215,781 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gimap5 |
A |
G |
6: 48,729,964 (GRCm39) |
E178G |
probably damaging |
Het |
| Gpatch1 |
C |
T |
7: 35,002,763 (GRCm39) |
G249E |
probably damaging |
Het |
| Gse1 |
T |
G |
8: 121,299,133 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,836,515 (GRCm39) |
D82G |
probably damaging |
Het |
| Kit |
G |
A |
5: 75,797,977 (GRCm39) |
D422N |
probably benign |
Het |
| Klhl28 |
A |
T |
12: 65,003,995 (GRCm39) |
F173I |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,766,278 (GRCm39) |
D253G |
possibly damaging |
Het |
| Lias |
T |
A |
5: 65,549,634 (GRCm39) |
H39Q |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,793,401 (GRCm39) |
D2504V |
probably damaging |
Het |
| Mgat5 |
A |
T |
1: 127,387,716 (GRCm39) |
R557S |
probably damaging |
Het |
| Mrpl54 |
T |
C |
10: 81,101,489 (GRCm39) |
T91A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,984,371 (GRCm39) |
D1069E |
possibly damaging |
Het |
| Nek1 |
T |
A |
8: 61,577,360 (GRCm39) |
|
probably null |
Het |
| Nfyc |
A |
C |
4: 120,625,921 (GRCm39) |
|
probably null |
Het |
| Nol7 |
A |
T |
13: 43,552,104 (GRCm39) |
E75V |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,710,337 (GRCm39) |
V606E |
probably damaging |
Het |
| Npat |
TGGTAAAA |
T |
9: 53,474,366 (GRCm39) |
|
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,424,886 (GRCm39) |
E142G |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,636 (GRCm39) |
V225A |
probably benign |
Het |
| Parg |
A |
T |
14: 31,931,585 (GRCm39) |
K402* |
probably null |
Het |
| Patj |
G |
A |
4: 98,357,819 (GRCm39) |
G695E |
probably damaging |
Het |
| Pde3a |
G |
A |
6: 141,433,300 (GRCm39) |
S777N |
probably benign |
Het |
| Phactr2 |
G |
A |
10: 13,129,536 (GRCm39) |
P174L |
possibly damaging |
Het |
| Phtf1 |
C |
T |
3: 103,894,750 (GRCm39) |
R113* |
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,564,443 (GRCm39) |
V1346L |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,193,865 (GRCm39) |
W525R |
probably damaging |
Het |
| Prl8a1 |
C |
T |
13: 27,758,055 (GRCm39) |
R218H |
possibly damaging |
Het |
| Pum3 |
T |
C |
19: 27,376,310 (GRCm39) |
E536G |
probably benign |
Het |
| Rb1 |
T |
C |
14: 73,500,042 (GRCm39) |
N535S |
probably benign |
Het |
| Rbm7 |
G |
T |
9: 48,401,016 (GRCm39) |
D237E |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,342,180 (GRCm39) |
V122A |
probably damaging |
Het |
| Sdhc |
C |
T |
1: 170,973,370 (GRCm39) |
R11H |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,887,029 (GRCm39) |
N360S |
possibly damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,809,437 (GRCm39) |
M281K |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,822,889 (GRCm39) |
E210G |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,202 (GRCm39) |
S31P |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,856,836 (GRCm39) |
N28I |
possibly damaging |
Het |
| Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
| Tacc3 |
G |
A |
5: 33,821,941 (GRCm39) |
V234I |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,469,511 (GRCm39) |
M132L |
possibly damaging |
Het |
| Tas2r104 |
C |
A |
6: 131,662,257 (GRCm39) |
V151F |
probably benign |
Het |
| Tbc1d10b |
C |
T |
7: 126,802,950 (GRCm39) |
S326N |
probably benign |
Het |
| Trim12c |
C |
T |
7: 103,997,451 (GRCm39) |
C35Y |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,755,123 (GRCm39) |
I2067T |
probably benign |
Het |
| Upk1a |
T |
C |
7: 30,306,311 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r39 |
T |
G |
7: 9,017,955 (GRCm39) |
T794P |
probably damaging |
Het |
| Wnk2 |
G |
A |
13: 49,210,708 (GRCm39) |
P1704S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,610,593 (GRCm39) |
E790G |
possibly damaging |
Het |
| Zmym1 |
G |
T |
4: 126,942,405 (GRCm39) |
T563K |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,745 (GRCm39) |
F132Y |
probably benign |
Het |
| Zranb3 |
C |
T |
1: 128,019,599 (GRCm39) |
A48T |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCCATGTGATGTAGGGAATGAG -3'
(R):5'- GCAGATCAGAGAAACAGCTCTGCC -3'
Sequencing Primer
(F):5'- TGAGGAGCAGAATTTACAGGC -3'
(R):5'- ACAGTATCACATGGCCTTGG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation