Incidental Mutation 'R4728:Ogdh'
| ID |
358618 |
| 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 |
042020-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4728 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6292549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 417
(Y417N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
|
| AlphaFold |
Q60597 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003461
AA Change: Y421N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: Y421N
| 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: Y417N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: Y417N
| 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: Y432N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: Y432N
| 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 damaging
Transcript: ENSMUST00000101554
AA Change: Y421N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: Y421N
| 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 |
0.9745 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
94% (73/78) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicc1 |
C |
T |
10: 70,771,661 (GRCm39) |
|
probably null |
Het |
| Bpifc |
T |
A |
10: 85,827,063 (GRCm39) |
H162L |
possibly damaging |
Het |
| Ccdc163 |
C |
T |
4: 116,566,209 (GRCm39) |
|
probably benign |
Het |
| Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
| Cyth4 |
G |
A |
15: 78,486,913 (GRCm39) |
G14R |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,242,294 (GRCm39) |
V194I |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,548,106 (GRCm39) |
V433E |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,176,434 (GRCm39) |
N42D |
possibly damaging |
Het |
| Dennd6a |
A |
G |
14: 26,348,575 (GRCm39) |
E313G |
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,658,589 (GRCm39) |
E864G |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,486,160 (GRCm39) |
Q451* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,490,880 (GRCm39) |
Y533N |
possibly damaging |
Het |
| Fut8 |
T |
A |
12: 77,521,973 (GRCm39) |
D537E |
probably damaging |
Het |
| Gm5407 |
T |
C |
16: 49,117,283 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9916 |
A |
G |
3: 118,228,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
T |
A |
7: 87,624,496 (GRCm39) |
F354L |
probably damaging |
Het |
| Hira |
C |
T |
16: 18,741,654 (GRCm39) |
A353V |
probably damaging |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,839,372 (GRCm39) |
L628P |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,054,555 (GRCm39) |
I463N |
probably damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,032,898 (GRCm39) |
Q62K |
probably damaging |
Het |
| Kif3c |
A |
T |
12: 3,415,873 (GRCm39) |
|
probably benign |
Het |
| Kmo |
A |
G |
1: 175,484,329 (GRCm39) |
D353G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,606 (GRCm39) |
T2301A |
probably damaging |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
C |
T |
12: 81,769,147 (GRCm39) |
R967Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,674,774 (GRCm39) |
H414R |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 102,997,402 (GRCm39) |
E145G |
probably damaging |
Het |
| Mlc1 |
A |
T |
15: 88,862,234 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,551,245 (GRCm39) |
D96G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,338,740 (GRCm39) |
S193R |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,174,515 (GRCm39) |
V967A |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,989 (GRCm39) |
I492K |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,789,179 (GRCm39) |
T497A |
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5w19 |
T |
C |
2: 87,698,779 (GRCm39) |
V148A |
probably benign |
Het |
| Ovol1 |
A |
T |
19: 5,603,690 (GRCm39) |
Y70* |
probably null |
Het |
| P2ry1 |
A |
G |
3: 60,911,641 (GRCm39) |
Y260C |
probably damaging |
Het |
| Pcx |
G |
T |
19: 4,653,124 (GRCm39) |
R263L |
probably damaging |
Het |
| Pla2g4f |
T |
A |
2: 120,131,402 (GRCm39) |
T774S |
probably benign |
Het |
| Prdm15 |
T |
G |
16: 97,622,986 (GRCm39) |
K289Q |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,960,268 (GRCm39) |
H91Q |
probably benign |
Het |
| Prmt5 |
C |
T |
14: 54,745,364 (GRCm39) |
R601H |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,120,637 (GRCm39) |
D2192E |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,734,372 (GRCm39) |
I299V |
probably benign |
Het |
| Rbm28 |
A |
G |
6: 29,143,591 (GRCm39) |
V354A |
probably damaging |
Het |
| Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
| Sema3f |
A |
G |
9: 107,582,639 (GRCm39) |
S35P |
probably benign |
Het |
| Serpina3n |
A |
T |
12: 104,375,422 (GRCm39) |
T165S |
probably benign |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Sh2d4b |
T |
A |
14: 40,564,389 (GRCm39) |
R267* |
probably null |
Het |
| Slc5a12 |
A |
T |
2: 110,474,769 (GRCm39) |
K554* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,059,334 (GRCm39) |
L409P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,069,798 (GRCm39) |
V981E |
possibly damaging |
Het |
| Spon2 |
T |
A |
5: 33,374,682 (GRCm39) |
R41S |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,630,153 (GRCm39) |
M2279K |
probably benign |
Het |
| Srcap |
T |
G |
7: 127,140,096 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
A |
G |
19: 40,594,186 (GRCm39) |
V409A |
probably damaging |
Het |
| Tg |
A |
C |
15: 66,554,676 (GRCm39) |
Q697P |
probably damaging |
Het |
| Tmem181a |
A |
G |
17: 6,340,874 (GRCm39) |
D141G |
probably benign |
Het |
| Tmem82 |
A |
G |
4: 141,341,963 (GRCm39) |
S334P |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,151,190 (GRCm39) |
Y1875C |
probably damaging |
Het |
| Vmn1r63 |
C |
A |
7: 5,806,362 (GRCm39) |
R90L |
probably damaging |
Het |
| Zfp330 |
A |
C |
8: 83,497,475 (GRCm39) |
Y56D |
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 |
|
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 |
|
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'- TTGAGCTGAACACATGCACTG -3'
(R):5'- CCTAAAACTGTGCCTCTAGACAG -3'
Sequencing Primer
(F):5'- GGTGTGCACCCTTCCTC -3'
(R):5'- GTTCTGCATGCTCACCAGAAGAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation