Incidental Mutation 'IGL02313:Ogdh'
| ID |
287884 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ogdh
|
| Ensembl Gene |
ENSMUSG00000020456 |
| Gene Name |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
| Synonyms |
2210403E04Rik, alpha-ketoglutarate dehydrogenase, d1401, 2210412K19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02313
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
6291633-6356642 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6355400 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 965
(V965A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
|
| AlphaFold |
Q60597 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003461
AA Change: V969A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: V969A
| 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: V965A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: V965A
| 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: V980A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: V980A
| 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 |
possibly damaging
Transcript: ENSMUST00000101554
AA Change: V969A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: V969A
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13c |
T |
A |
3: 157,947,934 (GRCm38) |
N136K |
probably damaging |
Het |
| Aph1b |
A |
T |
9: 66,790,673 (GRCm38) |
|
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,606,720 (GRCm38) |
K1250E |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,949,853 (GRCm38) |
N400S |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,538,661 (GRCm38) |
S630Y |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,965,675 (GRCm38) |
E1873V |
probably damaging |
Het |
| Chrna10 |
T |
C |
7: 102,112,029 (GRCm38) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,811,606 (GRCm38) |
L907P |
probably damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,810,705 (GRCm38) |
N264S |
probably damaging |
Het |
| Dgkg |
A |
G |
16: 22,570,230 (GRCm38) |
|
probably benign |
Het |
| Dpysl2 |
T |
G |
14: 66,824,390 (GRCm38) |
M256L |
probably benign |
Het |
| Dsp |
G |
T |
13: 38,196,523 (GRCm38) |
E1816* |
probably null |
Het |
| Fam129c |
A |
G |
8: 71,602,860 (GRCm38) |
R305G |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,454,656 (GRCm38) |
K530E |
probably damaging |
Het |
| Fam49a |
A |
G |
12: 12,364,751 (GRCm38) |
T248A |
possibly damaging |
Het |
| Fastk |
T |
C |
5: 24,443,092 (GRCm38) |
H242R |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,337,352 (GRCm38) |
H145Q |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,778,892 (GRCm38) |
L910P |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,453,605 (GRCm38) |
T4642A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,508,389 (GRCm38) |
T167A |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,330,690 (GRCm38) |
L690P |
probably benign |
Het |
| Klhdc10 |
G |
A |
6: 30,439,866 (GRCm38) |
|
probably null |
Het |
| Krt31 |
A |
G |
11: 100,048,396 (GRCm38) |
Y232H |
probably damaging |
Het |
| Lsm3 |
A |
G |
6: 91,516,088 (GRCm38) |
|
probably benign |
Het |
| Mfn2 |
T |
A |
4: 147,885,490 (GRCm38) |
I375F |
probably damaging |
Het |
| Mfrp |
A |
T |
9: 44,102,874 (GRCm38) |
I180F |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,349,312 (GRCm38) |
E168G |
possibly damaging |
Het |
| Naa16 |
A |
T |
14: 79,384,668 (GRCm38) |
V77D |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,558,773 (GRCm38) |
S1570P |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 102,000,232 (GRCm38) |
R1057* |
probably null |
Het |
| Nup210l |
G |
A |
3: 90,122,792 (GRCm38) |
A271T |
probably damaging |
Het |
| Olfr63 |
C |
A |
17: 33,269,665 (GRCm38) |
Q314K |
probably benign |
Het |
| Olfr734 |
A |
T |
14: 50,320,016 (GRCm38) |
V273E |
probably damaging |
Het |
| Olfr818 |
A |
G |
10: 129,945,903 (GRCm38) |
L53P |
probably damaging |
Het |
| Olfr836 |
A |
T |
9: 19,121,375 (GRCm38) |
N140I |
probably damaging |
Het |
| Olfr916 |
T |
A |
9: 38,658,066 (GRCm38) |
I109F |
probably damaging |
Het |
| Pdp2 |
A |
T |
8: 104,594,899 (GRCm38) |
Q460L |
probably benign |
Het |
| Pex5l |
T |
C |
3: 32,992,992 (GRCm38) |
T270A |
probably benign |
Het |
| Pkp4 |
C |
T |
2: 59,310,254 (GRCm38) |
Q435* |
probably null |
Het |
| Prss32 |
G |
A |
17: 23,856,122 (GRCm38) |
V149M |
probably benign |
Het |
| Riox2 |
C |
A |
16: 59,489,417 (GRCm38) |
P378Q |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,609,793 (GRCm38) |
A147T |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,905,525 (GRCm38) |
S124T |
possibly damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,824,755 (GRCm38) |
R24H |
possibly damaging |
Het |
| Slc22a1 |
C |
A |
17: 12,675,500 (GRCm38) |
G54* |
probably null |
Het |
| Slc24a5 |
C |
T |
2: 125,085,647 (GRCm38) |
|
probably benign |
Het |
| Tex101 |
C |
T |
7: 24,668,325 (GRCm38) |
V201M |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,681,593 (GRCm38) |
Y223C |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,650,468 (GRCm38) |
E382G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,184,484 (GRCm38) |
Y575N |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,565,168 (GRCm38) |
I259V |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,277,065 (GRCm38) |
N131K |
probably damaging |
Het |
| Zfp579 |
C |
T |
7: 4,994,433 (GRCm38) |
V160M |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,425,450 (GRCm38) |
D64G |
probably benign |
Het |
| Zfp974 |
T |
C |
7: 27,912,253 (GRCm38) |
T16A |
possibly damaging |
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 |
|
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 |
|
R6988:Ogdh
|
UTSW |
11 |
6,313,806 (GRCm38) |
nonsense |
probably null |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation