Incidental Mutation 'R6875:Ogdh'
| ID |
536386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogdh
|
| Ensembl Gene |
ENSMUSG00000020456 |
| Gene Name |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
| Synonyms |
2210403E04Rik, alpha-ketoglutarate dehydrogenase, d1401, 2210412K19Rik |
| MMRRC Submission |
044971-MU
|
| Accession Numbers |
Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6291633-6356642 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6340477 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 365
(Y365C)
|
| 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: Y354C
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: Y354C
| 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: Y350C
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: Y350C
| 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: Y365C
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: Y365C
| 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: Y354C
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: Y354C
| 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 |
0.3674 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (58/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
T |
C |
15: 12,812,068 (GRCm38) |
H270R |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,701,628 (GRCm38) |
I336T |
probably benign |
Het |
| Adam19 |
T |
A |
11: 46,112,875 (GRCm38) |
F177I |
probably benign |
Het |
| Ankrd53 |
T |
C |
6: 83,768,173 (GRCm38) |
V455A |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,925,665 (GRCm38) |
S415P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,797,352 (GRCm38) |
L614P |
probably benign |
Het |
| C130060K24Rik |
A |
T |
6: 65,456,336 (GRCm38) |
N380I |
probably benign |
Het |
| Catsper1 |
G |
T |
19: 5,343,963 (GRCm38) |
V668F |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,661,918 (GRCm38) |
D596E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,615,107 (GRCm38) |
S407P |
probably benign |
Het |
| Commd6 |
T |
C |
14: 101,634,350 (GRCm38) |
T86A |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,604,657 (GRCm38) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 79,085,560 (GRCm38) |
D252G |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,328,468 (GRCm38) |
S962C |
probably damaging |
Het |
| Fcho1 |
C |
A |
8: 71,714,425 (GRCm38) |
|
probably null |
Het |
| Fgf23 |
G |
T |
6: 127,073,216 (GRCm38) |
G63C |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,445,749 (GRCm38) |
Y834F |
probably damaging |
Het |
| Gcn1l1 |
T |
C |
5: 115,588,110 (GRCm38) |
L608P |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,202,276 (GRCm38) |
E545V |
probably damaging |
Het |
| Hecw2 |
A |
T |
1: 53,937,132 (GRCm38) |
M166K |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 22,665,893 (GRCm38) |
D586G |
probably damaging |
Het |
| Il1f9 |
G |
C |
2: 24,188,621 (GRCm38) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,904,911 (GRCm38) |
I422N |
possibly damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,112,771 (GRCm38) |
|
probably null |
Het |
| Kat6a |
G |
A |
8: 22,932,361 (GRCm38) |
A896T |
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,735,994 (GRCm38) |
I139T |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,866,342 (GRCm38) |
E332G |
probably damaging |
Het |
| Krt8 |
C |
T |
15: 101,997,908 (GRCm38) |
A389T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,784,106 (GRCm38) |
S175G |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,809,744 (GRCm38) |
|
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,805,659 (GRCm38) |
Y1709H |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 126,023,194 (GRCm38) |
S1519P |
probably benign |
Het |
| Npnt |
T |
A |
3: 132,909,910 (GRCm38) |
D124V |
probably damaging |
Het |
| Nr1d1 |
A |
T |
11: 98,770,836 (GRCm38) |
|
probably null |
Het |
| Olfr1305 |
A |
T |
2: 111,872,961 (GRCm38) |
I298N |
possibly damaging |
Het |
| Phf21b |
A |
T |
15: 84,787,446 (GRCm38) |
C416S |
probably damaging |
Het |
| Prpsap1 |
A |
G |
11: 116,471,438 (GRCm38) |
S373P |
probably damaging |
Het |
| Rab28 |
T |
C |
5: 41,703,534 (GRCm38) |
T26A |
probably damaging |
Het |
| Rbbp8nl |
A |
G |
2: 180,279,226 (GRCm38) |
I455T |
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,228,818 (GRCm38) |
A285V |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,672,371 (GRCm38) |
Q106K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Runx2 |
G |
A |
17: 44,814,192 (GRCm38) |
P80L |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,486,644 (GRCm38) |
L1666P |
probably damaging |
Het |
| Siglecf |
A |
C |
7: 43,355,200 (GRCm38) |
T318P |
probably benign |
Het |
| Slc22a1 |
C |
T |
17: 12,667,305 (GRCm38) |
W147* |
probably null |
Het |
| Smchd1 |
T |
C |
17: 71,353,506 (GRCm38) |
I1868V |
probably damaging |
Het |
| Snx21 |
A |
G |
2: 164,791,902 (GRCm38) |
S203G |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,482,831 (GRCm38) |
K792R |
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,673 (GRCm38) |
F100S |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,697,436 (GRCm38) |
M1391I |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,035,630 (GRCm38) |
E119G |
probably damaging |
Het |
| Syt11 |
G |
T |
3: 88,762,155 (GRCm38) |
S143R |
possibly damaging |
Het |
| Tiparp |
T |
A |
3: 65,531,642 (GRCm38) |
H126Q |
probably benign |
Het |
| Tulp2 |
C |
A |
7: 45,518,614 (GRCm38) |
T150K |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,242,429 (GRCm38) |
Y386F |
probably benign |
Het |
| Usp31 |
C |
T |
7: 121,649,640 (GRCm38) |
W860* |
probably null |
Het |
| Zfp317 |
A |
G |
9: 19,643,665 (GRCm38) |
R30G |
probably damaging |
Het |
| Zfp709 |
C |
A |
8: 71,889,007 (GRCm38) |
N93K |
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 |
|
IGL02313:Ogdh
|
APN |
11 |
6,355,400 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCATTGAGAGTGAACCTC -3'
(R):5'- TACTCACAGACCTCTTAGGGG -3'
Sequencing Primer
(F):5'- GAGTGAACCTCTCCAACCAAC -3'
(R):5'- AGACCTCTTAGGGGCCTCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation