Incidental Mutation 'R6988:Ogdh'
| ID |
543094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogdh
|
| Ensembl Gene |
ENSMUSG00000020456 |
| Gene Name |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
| Synonyms |
2210403E04Rik, alpha-ketoglutarate dehydrogenase, d1401, 2210412K19Rik |
| Accession Numbers |
Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6988 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
6291633-6356642 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 6313806 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 81
(R81*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
[ENSMUST00000135124]
[ENSMUST00000140765]
|
| AlphaFold |
Q60597 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003461
AA Change: R81*
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: R81*
| 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: R81*
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: R81*
| 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: R81*
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: R81*
| 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: R81*
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: R81*
| 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: R81*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140765
AA Change: R81*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
G |
4: 137,454,579 (GRCm38) |
L15W |
probably damaging |
Het |
| 4930550C14Rik |
G |
A |
9: 53,411,756 (GRCm38) |
V31I |
possibly damaging |
Het |
| 4932415D10Rik |
T |
C |
10: 82,291,899 (GRCm38) |
D1759G |
possibly damaging |
Het |
| Adgre1 |
C |
T |
17: 57,408,445 (GRCm38) |
S255F |
probably benign |
Het |
| Aff4 |
T |
G |
11: 53,398,237 (GRCm38) |
S404R |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,233,758 (GRCm38) |
|
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,878,249 (GRCm38) |
I1342K |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,518,125 (GRCm38) |
D626E |
possibly damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,916,923 (GRCm38) |
V332I |
probably benign |
Het |
| AY358078 |
A |
G |
14: 51,826,187 (GRCm38) |
E430G |
probably damaging |
Het |
| B4gat1 |
T |
A |
19: 5,040,434 (GRCm38) |
I395N |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,636,830 (GRCm38) |
I878N |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,355,709 (GRCm38) |
Q745* |
probably null |
Het |
| Ccl19 |
A |
T |
4: 42,754,885 (GRCm38) |
I87N |
probably damaging |
Het |
| Ces2g |
G |
C |
8: 104,963,908 (GRCm38) |
G107A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,488,406 (GRCm38) |
V180A |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 98,004,454 (GRCm38) |
T14A |
unknown |
Het |
| Dnah7a |
T |
C |
1: 53,582,625 (GRCm38) |
I1114V |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,666,213 (GRCm38) |
I2462T |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,643,275 (GRCm38) |
F208S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,714,210 (GRCm38) |
E3993G |
probably damaging |
Het |
| Erv3 |
C |
T |
2: 131,855,966 (GRCm38) |
D158N |
possibly damaging |
Het |
| Exoc6 |
T |
A |
19: 37,609,091 (GRCm38) |
F647I |
probably damaging |
Het |
| Fbrs |
G |
A |
7: 127,479,508 (GRCm38) |
|
probably benign |
Het |
| Fgfr1op2 |
T |
C |
6: 146,589,965 (GRCm38) |
F109L |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,869,271 (GRCm38) |
F98S |
possibly damaging |
Het |
| Gm436 |
A |
G |
4: 144,686,325 (GRCm38) |
F15S |
probably benign |
Het |
| H2-M10.1 |
T |
C |
17: 36,325,592 (GRCm38) |
K107E |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,528,890 (GRCm38) |
Q1436L |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,802,763 (GRCm38) |
Y79C |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,396,585 (GRCm38) |
V102I |
probably benign |
Het |
| Mnt |
C |
A |
11: 74,842,809 (GRCm38) |
|
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,782,660 (GRCm38) |
T112A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,747,189 (GRCm38) |
D506G |
probably benign |
Het |
| Olfr791 |
T |
A |
10: 129,526,673 (GRCm38) |
S149T |
probably benign |
Het |
| Olfr815 |
G |
C |
10: 129,902,409 (GRCm38) |
F100L |
probably damaging |
Het |
| Pole |
G |
T |
5: 110,329,583 (GRCm38) |
V1863F |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 144,274,007 (GRCm38) |
|
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,934,537 (GRCm38) |
K636E |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 91,885,635 (GRCm38) |
Y1151F |
probably benign |
Het |
| Rrad |
A |
G |
8: 104,630,636 (GRCm38) |
V93A |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,310,257 (GRCm38) |
R118* |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,386,290 (GRCm38) |
N596S |
probably benign |
Het |
| Snx19 |
C |
A |
9: 30,428,935 (GRCm38) |
D456E |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,698,597 (GRCm38) |
S35P |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 146,019,809 (GRCm38) |
R885L |
probably benign |
Het |
| Synm |
G |
A |
7: 67,733,658 (GRCm38) |
L1419F |
probably damaging |
Het |
| Tcrg-V6 |
G |
T |
13: 19,190,644 (GRCm38) |
G40W |
possibly damaging |
Het |
| Tekt2 |
A |
G |
4: 126,323,443 (GRCm38) |
F221L |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,269,900 (GRCm38) |
E732K |
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,693,148 (GRCm38) |
I90T |
possibly damaging |
Het |
| Trib2 |
A |
G |
12: 15,815,338 (GRCm38) |
S79P |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 85,010,143 (GRCm38) |
M1084V |
probably benign |
Het |
| Vmn1r181 |
T |
C |
7: 23,984,847 (GRCm38) |
F246L |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,511 (GRCm38) |
D2G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,080,716 (GRCm38) |
E1357G |
probably benign |
Het |
| Zhx3 |
A |
G |
2: 160,779,868 (GRCm38) |
M793T |
probably benign |
Het |
|
| Other mutations in Ogdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Ogdh
|
APN |
11 |
6,348,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01503:Ogdh
|
APN |
11 |
6,355,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01684:Ogdh
|
APN |
11 |
6,342,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02141:Ogdh
|
APN |
11 |
6,355,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02313:Ogdh
|
APN |
11 |
6,355,400 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02818:Ogdh
|
APN |
11 |
6,348,270 (GRCm38) |
missense |
probably benign |
|
|
N/A - 535:Ogdh
|
UTSW |
11 |
6,324,911 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
PIT4498001:Ogdh
|
UTSW |
11 |
6,340,504 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0328:Ogdh
|
UTSW |
11 |
6,347,216 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0505:Ogdh
|
UTSW |
11 |
6,339,936 (GRCm38) |
splice site |
probably benign |
|
|
R0627:Ogdh
|
UTSW |
11 |
6,347,216 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1119:Ogdh
|
UTSW |
11 |
6,340,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1480:Ogdh
|
UTSW |
11 |
6,347,827 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1591:Ogdh
|
UTSW |
11 |
6,349,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1804:Ogdh
|
UTSW |
11 |
6,338,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1873:Ogdh
|
UTSW |
11 |
6,340,438 (GRCm38) |
splice site |
probably benign |
|
|
R1959:Ogdh
|
UTSW |
11 |
6,346,638 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R2004:Ogdh
|
UTSW |
11 |
6,334,626 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2080:Ogdh
|
UTSW |
11 |
6,349,393 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2384:Ogdh
|
UTSW |
11 |
6,342,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2656:Ogdh
|
UTSW |
11 |
6,348,678 (GRCm38) |
missense |
probably benign |
|
|
R2883:Ogdh
|
UTSW |
11 |
6,334,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3405:Ogdh
|
UTSW |
11 |
6,349,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3838:Ogdh
|
UTSW |
11 |
6,338,627 (GRCm38) |
nonsense |
probably null |
|
|
R3933:Ogdh
|
UTSW |
11 |
6,342,601 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R3939:Ogdh
|
UTSW |
11 |
6,350,655 (GRCm38) |
nonsense |
probably null |
|
|
R4296:Ogdh
|
UTSW |
11 |
6,349,374 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4393:Ogdh
|
UTSW |
11 |
6,316,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4427:Ogdh
|
UTSW |
11 |
6,355,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4667:Ogdh
|
UTSW |
11 |
6,340,600 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4669:Ogdh
|
UTSW |
11 |
6,340,600 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4728:Ogdh
|
UTSW |
11 |
6,342,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4737:Ogdh
|
UTSW |
11 |
6,297,044 (GRCm38) |
missense |
probably benign |
|
|
R4785:Ogdh
|
UTSW |
11 |
6,349,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4796:Ogdh
|
UTSW |
11 |
6,340,570 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5333:Ogdh
|
UTSW |
11 |
6,352,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5592:Ogdh
|
UTSW |
11 |
6,316,763 (GRCm38) |
splice site |
probably null |
|
|
R6318:Ogdh
|
UTSW |
11 |
6,349,390 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6875:Ogdh
|
UTSW |
11 |
6,340,477 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7406:Ogdh
|
UTSW |
11 |
6,348,351 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7724:Ogdh
|
UTSW |
11 |
6,324,887 (GRCm38) |
missense |
probably benign |
|
|
R7763:Ogdh
|
UTSW |
11 |
6,338,558 (GRCm38) |
missense |
probably benign |
|
|
R7909:Ogdh
|
UTSW |
11 |
6,313,965 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R8207:Ogdh
|
UTSW |
11 |
6,349,329 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8348:Ogdh
|
UTSW |
11 |
6,342,619 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8401:Ogdh
|
UTSW |
11 |
6,297,174 (GRCm38) |
nonsense |
probably null |
|
|
R8448:Ogdh
|
UTSW |
11 |
6,342,619 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8770:Ogdh
|
UTSW |
11 |
6,355,336 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8796:Ogdh
|
UTSW |
11 |
6,347,129 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R9132:Ogdh
|
UTSW |
11 |
6,340,488 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9328:Ogdh
|
UTSW |
11 |
6,347,838 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9479:Ogdh
|
UTSW |
11 |
6,347,854 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9696:Ogdh
|
UTSW |
11 |
6,339,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Ogdh
|
UTSW |
11 |
6,355,427 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Ogdh
|
UTSW |
11 |
6,316,982 (GRCm38) |
missense |
probably benign |
0.07 |
|
Z1177:Ogdh
|
UTSW |
11 |
6,297,051 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTGTGAGGTGGGTTAAGTAATAA -3'
(R):5'- CCTGATATGCCCTGATGAGAGA -3'
Sequencing Primer
(F):5'- ACTGCTCTTCCAAAGGTACTGAG -3'
(R):5'- TATGCCCTGATGAGAGACTGCAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation