Incidental Mutation 'R6318:Ogdh'
| ID |
510297 |
| 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 |
044473-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6299390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 752
(N752S)
|
| 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: N752S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: N752S
| 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: N748S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: N748S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1_dh
|
252 |
578 |
1e-96 |
PFAM |
|
Transket_pyr
|
647 |
861 |
3.44e-50 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093350
AA Change: N763S
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: N763S
| 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: N752S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: N752S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
99% (74/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,270,474 (GRCm39) |
T13A |
possibly damaging |
Het |
| Abcg4 |
T |
C |
9: 44,186,645 (GRCm39) |
T500A |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,006,681 (GRCm39) |
I1051F |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,343,241 (GRCm39) |
N235K |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,153,245 (GRCm39) |
Y160* |
probably null |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Armt1 |
T |
C |
10: 4,400,859 (GRCm39) |
M202T |
probably benign |
Het |
| Brd2 |
C |
A |
17: 34,331,872 (GRCm39) |
V349F |
probably damaging |
Het |
| Btnl10 |
A |
T |
11: 58,817,691 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,253,591 (GRCm39) |
V216A |
possibly damaging |
Het |
| Ccdc85c |
A |
T |
12: 108,240,968 (GRCm39) |
L142Q |
unknown |
Het |
| Cdc27 |
A |
T |
11: 104,419,520 (GRCm39) |
S172T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,548,237 (GRCm39) |
I109T |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 94,261,211 (GRCm39) |
G72E |
probably damaging |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clec14a |
G |
A |
12: 58,315,001 (GRCm39) |
P207L |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,448,652 (GRCm39) |
R599H |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,953,212 (GRCm39) |
I3423N |
probably damaging |
Het |
| Cyp4a29 |
C |
A |
4: 115,107,396 (GRCm39) |
N243K |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,610 (GRCm39) |
F94L |
probably damaging |
Het |
| Dusp3 |
A |
C |
11: 101,877,697 (GRCm39) |
V19G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,280 (GRCm39) |
|
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,313,921 (GRCm39) |
V545E |
probably damaging |
Het |
| Fxn |
G |
T |
19: 24,257,790 (GRCm39) |
A47D |
probably damaging |
Het |
| Gdpgp1 |
A |
T |
7: 79,888,898 (GRCm39) |
I310F |
possibly damaging |
Het |
| Gm7210 |
A |
T |
7: 11,328,040 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
G |
T |
6: 111,335,836 (GRCm39) |
C749F |
probably damaging |
Het |
| Hps4 |
T |
G |
5: 112,494,495 (GRCm39) |
V26G |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,814,981 (GRCm39) |
D294G |
probably benign |
Het |
| Immp1l |
T |
C |
2: 105,761,172 (GRCm39) |
F27S |
probably benign |
Het |
| Kcnk3 |
T |
A |
5: 30,779,930 (GRCm39) |
C327S |
probably damaging |
Het |
| Kif13a |
T |
A |
13: 46,968,683 (GRCm39) |
|
probably null |
Het |
| Krtap5-4 |
T |
C |
7: 141,857,827 (GRCm39) |
S166P |
unknown |
Het |
| Lyst |
G |
A |
13: 13,917,896 (GRCm39) |
D3319N |
possibly damaging |
Het |
| Malrd1 |
T |
G |
2: 16,047,078 (GRCm39) |
S1735A |
unknown |
Het |
| Myh4 |
A |
G |
11: 67,134,268 (GRCm39) |
T308A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,190,167 (GRCm39) |
Q1269L |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,781,657 (GRCm39) |
V1367I |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,250,269 (GRCm39) |
D208G |
probably benign |
Het |
| Nelfe |
T |
A |
17: 35,073,432 (GRCm39) |
V296D |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,518,761 (GRCm39) |
R284G |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,109,374 (GRCm39) |
V734E |
probably damaging |
Het |
| Or11i1 |
T |
C |
3: 106,729,503 (GRCm39) |
D124G |
probably damaging |
Het |
| Or3a1b |
A |
T |
11: 74,012,547 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,998 (GRCm39) |
I301V |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,399,673 (GRCm39) |
M116T |
probably benign |
Het |
| Otof |
C |
A |
5: 30,571,888 (GRCm39) |
G171V |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,939 (GRCm39) |
V208D |
probably damaging |
Het |
| Pkn1 |
T |
A |
8: 84,410,220 (GRCm39) |
T340S |
probably damaging |
Het |
| Plcd4 |
C |
T |
1: 74,602,753 (GRCm39) |
L668F |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prss50 |
A |
T |
9: 110,690,367 (GRCm39) |
D170V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,237,118 (GRCm38) |
V604A |
probably damaging |
Het |
| Rab33b |
T |
C |
3: 51,400,826 (GRCm39) |
V100A |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,368,971 (GRCm39) |
D736V |
probably damaging |
Het |
| Rela |
C |
A |
19: 5,696,992 (GRCm39) |
P400T |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,179,334 (GRCm39) |
L50P |
probably damaging |
Het |
| Scn10a |
A |
C |
9: 119,456,181 (GRCm39) |
Y1214D |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,877,430 (GRCm39) |
E179G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,374,330 (GRCm39) |
D1253V |
unknown |
Het |
| Sp4 |
G |
T |
12: 118,201,913 (GRCm39) |
P771H |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,099 (GRCm39) |
Y263F |
probably damaging |
Het |
| Ssbp1 |
G |
A |
6: 40,453,687 (GRCm39) |
V78I |
probably benign |
Het |
| St3gal6 |
A |
G |
16: 58,306,769 (GRCm39) |
I87T |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,545,129 (GRCm39) |
D997E |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,321,639 (GRCm39) |
P2265S |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,291,936 (GRCm39) |
F212Y |
probably damaging |
Het |
| Ubc |
A |
G |
5: 125,465,324 (GRCm39) |
M1T |
probably null |
Het |
| Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
| Yes1 |
T |
C |
5: 32,809,030 (GRCm39) |
I132T |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,993,444 (GRCm39) |
T830A |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,358,044 (GRCm39) |
F451I |
possibly damaging |
Het |
| Zfp995 |
C |
T |
17: 22,099,493 (GRCm39) |
C247Y |
probably benign |
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 |
|
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 |
|
|
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'- GCCCCTTACACTGTATGCAAC -3'
(R):5'- GGACGAATCAAGAGAACCCTCG -3'
Sequencing Primer
(F):5'- AGCTCGCTGTCTGAGTACG -3'
(R):5'- AACCCTCGGCCTTGTTAGGATAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation