Incidental Mutation 'R7406:Ogdh'
| ID |
574751 |
| 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 |
045487-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6298351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 641
(T641A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
|
| 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
AA Change: T630A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: T630A
| 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: ENSMUST00000081894
AA Change: T626A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: T626A
| 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 benign
Transcript: ENSMUST00000093350
AA Change: T641A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: T641A
| 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
AA Change: T630A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: T630A
| 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 |
|
| Meta Mutation Damage Score |
0.0596 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
T |
C |
1: 85,974,231 (GRCm39) |
S183P |
possibly damaging |
Het |
| 2900092C05Rik |
A |
G |
7: 12,249,391 (GRCm39) |
T75A |
possibly damaging |
Het |
| Abhd8 |
A |
G |
8: 71,914,406 (GRCm39) |
V74A |
probably benign |
Het |
| Agrn |
A |
C |
4: 156,256,758 (GRCm39) |
S1282R |
possibly damaging |
Het |
| Atf5 |
T |
C |
7: 44,462,380 (GRCm39) |
N248S |
possibly damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,869,576 (GRCm39) |
Y497C |
probably damaging |
Het |
| Bpifa2 |
T |
G |
2: 153,851,739 (GRCm39) |
S58R |
probably benign |
Het |
| Cacna1h |
C |
T |
17: 25,604,600 (GRCm39) |
E1238K |
possibly damaging |
Het |
| Ccdc71 |
T |
A |
9: 108,340,523 (GRCm39) |
L112* |
probably null |
Het |
| Cd300e |
A |
T |
11: 114,946,128 (GRCm39) |
I111N |
probably damaging |
Het |
| Cdkl3 |
A |
T |
11: 51,924,369 (GRCm39) |
E552D |
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,617,245 (GRCm39) |
V125A |
probably benign |
Het |
| Clock |
A |
T |
5: 76,414,692 (GRCm39) |
M1K |
probably null |
Het |
| Cops7b |
T |
A |
1: 86,528,852 (GRCm39) |
L193Q |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,338,707 (GRCm39) |
T467A |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,652,615 (GRCm39) |
E971G |
unknown |
Het |
| Dcp2 |
A |
G |
18: 44,543,254 (GRCm39) |
T271A |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,172 (GRCm39) |
N2639S |
possibly damaging |
Het |
| Fhip1a |
T |
C |
3: 85,637,784 (GRCm39) |
I172V |
probably benign |
Het |
| Gm11168 |
C |
G |
9: 3,006,912 (GRCm39) |
C212W |
probably benign |
Het |
| Gpr179 |
G |
T |
11: 97,242,420 (GRCm39) |
D141E |
probably damaging |
Het |
| H2bc4 |
A |
G |
13: 23,868,342 (GRCm39) |
Y43C |
probably damaging |
Het |
| Hdhd2 |
C |
T |
18: 77,031,811 (GRCm39) |
T89M |
probably benign |
Het |
| Krt6b |
T |
G |
15: 101,587,513 (GRCm39) |
T194P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,266,030 (GRCm39) |
|
probably null |
Het |
| Maneal |
A |
T |
4: 124,754,161 (GRCm39) |
I214N |
possibly damaging |
Het |
| Map1lc3b |
T |
A |
8: 122,317,355 (GRCm39) |
C11S |
unknown |
Het |
| Mapt |
G |
A |
11: 104,213,350 (GRCm39) |
G296E |
possibly damaging |
Het |
| Mgam |
A |
G |
6: 40,640,459 (GRCm39) |
N509S |
probably benign |
Het |
| Mrgprx1 |
T |
A |
7: 47,671,733 (GRCm39) |
I5F |
possibly damaging |
Het |
| Mroh5 |
T |
C |
15: 73,659,583 (GRCm39) |
D416G |
probably benign |
Het |
| Ncan |
T |
G |
8: 70,562,749 (GRCm39) |
D503A |
probably benign |
Het |
| Nedd1 |
A |
T |
10: 92,547,185 (GRCm39) |
|
probably null |
Het |
| Or2b6 |
T |
C |
13: 21,823,316 (GRCm39) |
I126V |
probably benign |
Het |
| Or4k2 |
T |
A |
14: 50,424,015 (GRCm39) |
I221F |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,435 (GRCm39) |
D50E |
probably benign |
Het |
| Or8b1b |
T |
A |
9: 38,375,439 (GRCm39) |
M34K |
possibly damaging |
Het |
| Pcdhga8 |
A |
C |
18: 37,859,238 (GRCm39) |
Q98P |
possibly damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,953,242 (GRCm39) |
Y1218H |
probably damaging |
Het |
| Ppp3cc |
A |
T |
14: 70,483,387 (GRCm39) |
S229T |
possibly damaging |
Het |
| Prss43 |
T |
G |
9: 110,657,764 (GRCm39) |
I221S |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,801,002 (GRCm39) |
T221S |
probably benign |
Het |
| Serpinb9f |
G |
T |
13: 33,518,543 (GRCm39) |
E348* |
probably null |
Het |
| Sfxn5 |
A |
G |
6: 85,244,889 (GRCm39) |
Y169H |
probably damaging |
Het |
| Skint9 |
T |
C |
4: 112,246,428 (GRCm39) |
N228S |
probably benign |
Het |
| Slx4ip |
A |
T |
2: 136,842,162 (GRCm39) |
D29V |
probably damaging |
Het |
| Snx29 |
G |
T |
16: 11,573,180 (GRCm39) |
G474V |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,638,017 (GRCm39) |
D282E |
possibly damaging |
Het |
| Srek1 |
A |
T |
13: 103,905,890 (GRCm39) |
V77E |
probably damaging |
Het |
| Timd6 |
A |
G |
11: 46,468,285 (GRCm39) |
T120A |
possibly damaging |
Het |
| Tmt1a3 |
T |
C |
15: 100,233,289 (GRCm39) |
V160A |
probably benign |
Het |
| Tnfrsf22 |
T |
C |
7: 143,194,564 (GRCm39) |
D121G |
probably damaging |
Het |
| Ucma |
G |
A |
2: 4,990,170 (GRCm39) |
W122* |
probably null |
Het |
| Vmn2r124 |
T |
C |
17: 18,282,306 (GRCm39) |
M113T |
unknown |
Het |
| Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
A |
G |
5: 108,948,442 (GRCm39) |
L482S |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,378,138 (GRCm39) |
I476N |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdr26 |
A |
T |
1: 181,015,240 (GRCm39) |
S390R |
probably damaging |
Het |
| Zbtb40 |
A |
T |
4: 136,728,205 (GRCm39) |
S471T |
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 |
|
|
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'- TAGAAAGGCAGAGCTGTTTCTC -3'
(R):5'- TAGGAGCGCAAAGTGATGCC -3'
Sequencing Primer
(F):5'- AGAGCTGTTTCTCTGATCTGC -3'
(R):5'- GCAAAGTGATGCCCCCTTAGTTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation