Incidental Mutation 'IGL02141:Ogdh'
ID |
281536 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ogdh
|
Ensembl Gene |
ENSMUSG00000020456 |
Gene Name |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
Synonyms |
alpha-ketoglutarate dehydrogenase, 2210403E04Rik, 2210412K19Rik, d1401 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02141
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6305015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 907
(K907E)
|
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: K907E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003461 Gene: ENSMUSG00000020456 AA Change: K907E
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: K903E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000080569 Gene: ENSMUSG00000020456 AA Change: K903E
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: K918E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000091041 Gene: ENSMUSG00000020456 AA Change: K918E
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: K907E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099090 Gene: ENSMUSG00000020456 AA Change: K907E
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 |
|
Coding Region Coverage |
|
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 |
1700001J03Rik |
C |
T |
5: 146,120,275 (GRCm39) |
A188T |
probably benign |
Het |
2310022B05Rik |
A |
T |
8: 125,364,645 (GRCm39) |
|
probably benign |
Het |
Atf6b |
C |
A |
17: 34,872,251 (GRCm39) |
H539Q |
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,729,593 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
G |
T |
2: 154,071,477 (GRCm39) |
|
probably null |
Het |
Cep89 |
T |
A |
7: 35,120,349 (GRCm39) |
M377K |
probably damaging |
Het |
Clpx |
G |
T |
9: 65,219,400 (GRCm39) |
|
probably null |
Het |
Cops5 |
T |
C |
1: 10,105,342 (GRCm39) |
K47E |
probably damaging |
Het |
Cryba2 |
T |
C |
1: 74,931,943 (GRCm39) |
N35S |
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,862,443 (GRCm39) |
K162E |
possibly damaging |
Het |
Dhx36 |
A |
G |
3: 62,401,310 (GRCm39) |
S319P |
probably benign |
Het |
Dram2 |
A |
G |
3: 106,479,012 (GRCm39) |
|
probably benign |
Het |
Eci2 |
T |
A |
13: 35,162,656 (GRCm39) |
T300S |
probably benign |
Het |
Egf |
C |
A |
3: 129,533,631 (GRCm39) |
G70* |
probably null |
Het |
Eif5b |
T |
C |
1: 38,071,403 (GRCm39) |
V444A |
probably benign |
Het |
Elf3 |
T |
C |
1: 135,185,445 (GRCm39) |
D23G |
possibly damaging |
Het |
Epb41l4b |
A |
T |
4: 57,103,422 (GRCm39) |
|
probably null |
Het |
Fam167a |
T |
A |
14: 63,689,708 (GRCm39) |
S2T |
probably benign |
Het |
Flrt3 |
A |
G |
2: 140,502,608 (GRCm39) |
V340A |
probably damaging |
Het |
Gimap3 |
T |
C |
6: 48,742,312 (GRCm39) |
E206G |
probably benign |
Het |
Gp6 |
T |
C |
7: 4,397,103 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,788,101 (GRCm39) |
M581L |
probably damaging |
Het |
Hapln3 |
A |
G |
7: 78,767,893 (GRCm39) |
V167A |
probably damaging |
Het |
Hnrnpll |
G |
A |
17: 80,358,142 (GRCm39) |
T203I |
probably benign |
Het |
Ighv3-6 |
A |
G |
12: 114,251,982 (GRCm39) |
I47T |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,387,869 (GRCm39) |
T926M |
probably damaging |
Het |
Lonp1 |
A |
T |
17: 56,922,086 (GRCm39) |
S765T |
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,365 (GRCm39) |
S27F |
probably damaging |
Het |
Lrit2 |
T |
C |
14: 36,790,031 (GRCm39) |
|
probably benign |
Het |
Luc7l |
C |
A |
17: 26,472,054 (GRCm39) |
T17K |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,249,708 (GRCm39) |
T228A |
possibly damaging |
Het |
Mroh1 |
G |
T |
15: 76,330,799 (GRCm39) |
S1161I |
possibly damaging |
Het |
Muc5b |
T |
G |
7: 141,407,104 (GRCm39) |
C1091G |
unknown |
Het |
Nppb |
A |
T |
4: 148,070,463 (GRCm39) |
I11F |
probably benign |
Het |
Nsf |
A |
T |
11: 103,719,351 (GRCm39) |
D650E |
probably benign |
Het |
Or1b1 |
G |
A |
2: 36,995,437 (GRCm39) |
S75F |
probably benign |
Het |
Or1j15 |
A |
G |
2: 36,458,820 (GRCm39) |
D70G |
probably damaging |
Het |
Or7a35 |
A |
G |
10: 78,853,555 (GRCm39) |
Y133C |
probably damaging |
Het |
Pcnx1 |
A |
T |
12: 81,907,156 (GRCm39) |
Q4L |
possibly damaging |
Het |
Pgc |
T |
A |
17: 48,037,856 (GRCm39) |
L9H |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,285,556 (GRCm39) |
S887T |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,815 (GRCm39) |
D3239G |
probably damaging |
Het |
Pole4 |
T |
C |
6: 82,625,015 (GRCm39) |
T116A |
probably benign |
Het |
Potegl |
T |
C |
2: 23,120,212 (GRCm39) |
F203L |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,498 (GRCm39) |
N300D |
possibly damaging |
Het |
Rara |
T |
A |
11: 98,858,907 (GRCm39) |
Y119N |
probably damaging |
Het |
Rbck1 |
G |
T |
2: 152,160,294 (GRCm39) |
R462S |
possibly damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slfn2 |
C |
A |
11: 82,960,670 (GRCm39) |
N216K |
probably benign |
Het |
Suox |
A |
G |
10: 128,507,967 (GRCm39) |
|
probably benign |
Het |
Tars1 |
T |
A |
15: 11,391,280 (GRCm39) |
Y283F |
probably damaging |
Het |
Trpm4 |
A |
T |
7: 44,967,603 (GRCm39) |
|
probably null |
Het |
Ubtd2 |
A |
T |
11: 32,449,262 (GRCm39) |
K36N |
probably benign |
Het |
Unkl |
T |
C |
17: 25,448,408 (GRCm39) |
L327P |
probably damaging |
Het |
Vmn1r11 |
T |
A |
6: 57,114,364 (GRCm39) |
Y9* |
probably null |
Het |
Vps13b |
T |
C |
15: 35,572,227 (GRCm39) |
V948A |
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,192,264 (GRCm39) |
H403R |
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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |