Incidental Mutation 'R2384:Ogdh'
| ID |
247649 |
| 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 |
040358-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6292526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 413
(A413D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
|
| AlphaFold |
Q60597 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003461
AA Change: A413D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: A413D
| 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: A409D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: A409D
| 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: A424D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: A424D
| 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: A413D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: A413D
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4933414I15Rik |
A |
G |
11: 50,833,333 (GRCm39) |
S90P |
unknown |
Het |
| Abca13 |
T |
C |
11: 9,217,450 (GRCm39) |
|
probably benign |
Het |
| Chpf |
C |
T |
1: 75,451,753 (GRCm39) |
R567H |
probably benign |
Het |
| Cnp |
A |
G |
11: 100,467,279 (GRCm39) |
Y74C |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,406 (GRCm39) |
V273D |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,951,591 (GRCm39) |
Y656C |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,470,288 (GRCm39) |
E107V |
possibly damaging |
Het |
| Fscn2 |
T |
C |
11: 120,257,559 (GRCm39) |
S307P |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,936 (GRCm39) |
E62G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,912,207 (GRCm39) |
Y394C |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,306 (GRCm39) |
I314T |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,863,964 (GRCm39) |
I293L |
probably benign |
Het |
| Il36g |
A |
G |
2: 24,082,660 (GRCm39) |
H145R |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,814,864 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,976 (GRCm39) |
S369G |
probably damaging |
Het |
| Klrh1 |
T |
A |
6: 129,749,343 (GRCm39) |
H84L |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,753,261 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
A |
G |
9: 124,349,707 (GRCm38) |
|
noncoding transcript |
Het |
| Obscn |
A |
G |
11: 58,933,663 (GRCm39) |
|
probably null |
Het |
| Podn |
T |
C |
4: 107,879,269 (GRCm39) |
E283G |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,214,026 (GRCm39) |
D456G |
probably benign |
Het |
| Saxo4 |
A |
C |
19: 10,458,646 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
C |
9: 75,573,008 (GRCm39) |
T308A |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,878,344 (GRCm39) |
T228A |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,393 (GRCm39) |
E138G |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,204 (GRCm39) |
V104A |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,709,852 (GRCm39) |
R479W |
probably damaging |
Het |
| Trim26 |
C |
T |
17: 37,161,781 (GRCm39) |
P67S |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,378 (GRCm39) |
Y787C |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,074 (GRCm39) |
V1447D |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,199 (GRCm39) |
A527T |
probably damaging |
Het |
| Ucp2 |
A |
G |
7: 100,147,461 (GRCm39) |
I172V |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,749,220 (GRCm39) |
Y903N |
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 |
|
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'- TGAGCTGAACACATGCACTG -3'
(R):5'- CCTAAAACTGTGCCTCTAGACAG -3'
Sequencing Primer
(F):5'- GTAGAAACTCTTCTCAGCCTC -3'
(R):5'- GTTCTGCATGCTCACCAGAAGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation