Incidental Mutation 'R8401:Ogdh'
| ID |
652198 |
| 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 |
067877-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8401 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 6247174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 66
(L66*)
|
| 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 null
Transcript: ENSMUST00000003461
AA Change: L66*
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: L66*
| 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
AA Change: L66*
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: L66*
| 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
AA Change: L66*
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: L66*
| 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
AA Change: L66*
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: L66*
| 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: ENSMUST00000135124
AA Change: L66*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140765
AA Change: L66*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
T |
C |
14: 31,467,251 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,936,011 (GRCm39) |
D235G |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,659,574 (GRCm39) |
I463F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,475,817 (GRCm39) |
I2509N |
probably damaging |
Het |
| Brinp3 |
T |
C |
1: 146,777,184 (GRCm39) |
S544P |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,963,473 (GRCm39) |
Y824C |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,870,904 (GRCm39) |
V330A |
probably benign |
Het |
| Dct |
T |
C |
14: 118,280,615 (GRCm39) |
T134A |
possibly damaging |
Het |
| Ddx56 |
T |
C |
11: 6,214,199 (GRCm39) |
D350G |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,409,277 (GRCm39) |
L438F |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 117,915,485 (GRCm39) |
K4378M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,800,763 (GRCm39) |
S595F |
probably benign |
Het |
| Epb41 |
C |
T |
4: 131,702,018 (GRCm39) |
R539Q |
probably damaging |
Het |
| Foxred2 |
T |
C |
15: 77,836,191 (GRCm39) |
I389V |
probably damaging |
Het |
| Gan |
C |
A |
8: 117,910,242 (GRCm39) |
T57K |
possibly damaging |
Het |
| Glra3 |
T |
C |
8: 56,542,124 (GRCm39) |
V289A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,457,846 (GRCm39) |
F249L |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,599,981 (GRCm39) |
A258T |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,904,243 (GRCm39) |
N212S |
possibly damaging |
Het |
| Ikzf2 |
C |
A |
1: 69,578,254 (GRCm39) |
Q418H |
probably damaging |
Het |
| Ikzf2 |
T |
G |
1: 69,578,255 (GRCm39) |
Q418P |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,556,989 (GRCm39) |
N30K |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,840,580 (GRCm39) |
D606E |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,963,760 (GRCm39) |
K393R |
probably damaging |
Het |
| Lmbrd2 |
A |
T |
15: 9,156,294 (GRCm39) |
I124F |
possibly damaging |
Het |
| Loxhd1 |
C |
A |
18: 77,468,156 (GRCm39) |
P935T |
probably damaging |
Het |
| Nes |
T |
C |
3: 87,885,388 (GRCm39) |
S1216P |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,213 (GRCm39) |
L227P |
probably damaging |
Het |
| Nkx2-1 |
C |
A |
12: 56,579,841 (GRCm39) |
L366F |
probably damaging |
Het |
| Nol6 |
C |
A |
4: 41,119,548 (GRCm39) |
R586L |
possibly damaging |
Het |
| Or2b28 |
A |
T |
13: 21,531,997 (GRCm39) |
I300L |
probably benign |
Het |
| Orm3 |
A |
G |
4: 63,274,467 (GRCm39) |
S11G |
possibly damaging |
Het |
| Pkn3 |
C |
A |
2: 29,970,071 (GRCm39) |
S126R |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,335,091 (GRCm39) |
D442E |
probably damaging |
Het |
| Pop1 |
A |
T |
15: 34,508,755 (GRCm39) |
T277S |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,068,868 (GRCm39) |
T563A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,591,477 (GRCm39) |
F2652I |
possibly damaging |
Het |
| Prok1 |
A |
G |
3: 107,144,513 (GRCm39) |
I30T |
probably benign |
Het |
| Prr9 |
T |
G |
3: 92,030,356 (GRCm39) |
T95P |
possibly damaging |
Het |
| Ptgds |
A |
G |
2: 25,359,669 (GRCm39) |
M6T |
unknown |
Het |
| Rnaseh2b |
T |
A |
14: 62,607,938 (GRCm39) |
D250E |
probably benign |
Het |
| Rundc1 |
C |
T |
11: 101,324,383 (GRCm39) |
T363M |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,821 (GRCm39) |
H3081L |
possibly damaging |
Het |
| Setmar |
T |
C |
6: 108,053,124 (GRCm39) |
I206T |
probably benign |
Het |
| Skic8 |
A |
T |
9: 54,635,539 (GRCm39) |
S21T |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,989,453 (GRCm39) |
S85P |
possibly damaging |
Het |
| Spi1 |
A |
G |
2: 90,943,650 (GRCm39) |
N65D |
probably benign |
Het |
| Stx1b |
A |
T |
7: 127,406,945 (GRCm39) |
|
probably benign |
Het |
| Trav5-4 |
G |
A |
14: 53,941,750 (GRCm39) |
S41N |
probably benign |
Het |
| Tspan14 |
T |
C |
14: 40,630,049 (GRCm39) |
D260G |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,852,527 (GRCm39) |
D645G |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,275,062 (GRCm39) |
T1845I |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,973 (GRCm39) |
L932P |
probably damaging |
Het |
| Zfp62 |
T |
A |
11: 49,108,218 (GRCm39) |
C770S |
probably damaging |
Het |
| Zfp672 |
T |
C |
11: 58,207,628 (GRCm39) |
K231R |
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 |
|
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 |
|
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'- TGTGCTGCTAAGTTAAGGCC -3'
(R):5'- CTCATTGCTGGAAACAACTCAAG -3'
Sequencing Primer
(F):5'- CTGCTAAGTTAAGGCCATTGACAGC -3'
(R):5'- CAACTCAAGAGGACTGTGGTTTCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation