Incidental Mutation 'R4296:Ogdh'
ID |
323343 |
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 |
041656-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4296 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 6299374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 743
(F743V)
|
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: F747V
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000003461 Gene: ENSMUSG00000020456 AA Change: F747V
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: F743V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000080569 Gene: ENSMUSG00000020456 AA Change: F743V
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: F758V
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091041 Gene: ENSMUSG00000020456 AA Change: F758V
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: F747V
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099090 Gene: ENSMUSG00000020456 AA Change: F747V
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: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
G |
T |
19: 43,811,513 (GRCm39) |
G993C |
probably damaging |
Het |
Abcc2 |
G |
C |
19: 43,811,514 (GRCm39) |
G993A |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,488,673 (GRCm39) |
H810L |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,358,641 (GRCm39) |
D5G |
probably benign |
Het |
Aldh7a1 |
A |
T |
18: 56,678,035 (GRCm39) |
|
probably null |
Het |
Aox1 |
T |
A |
1: 58,096,559 (GRCm39) |
|
probably null |
Het |
Apbb1 |
G |
T |
7: 105,223,033 (GRCm39) |
Q193K |
probably benign |
Het |
Arl9 |
C |
A |
5: 77,154,396 (GRCm39) |
N41K |
probably damaging |
Het |
Armc1 |
A |
G |
3: 19,203,680 (GRCm39) |
M82T |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,381,960 (GRCm39) |
E526G |
probably damaging |
Het |
Cacna1a |
C |
T |
8: 85,285,922 (GRCm39) |
R809C |
probably damaging |
Het |
Cd200r1 |
T |
C |
16: 44,610,033 (GRCm39) |
I84T |
probably damaging |
Het |
Cgrrf1 |
T |
C |
14: 47,069,812 (GRCm39) |
V27A |
probably damaging |
Het |
Clec4f |
G |
A |
6: 83,629,557 (GRCm39) |
Q334* |
probably null |
Het |
Cpeb3 |
C |
T |
19: 37,151,389 (GRCm39) |
G329D |
possibly damaging |
Het |
Ctnnbl1 |
C |
T |
2: 157,661,490 (GRCm39) |
|
probably null |
Het |
Dip2b |
A |
T |
15: 100,079,217 (GRCm39) |
M810L |
probably benign |
Het |
Eml3 |
T |
C |
19: 8,908,773 (GRCm39) |
S158P |
probably damaging |
Het |
Eps8l2 |
G |
T |
7: 140,938,175 (GRCm39) |
E470* |
probably null |
Het |
Flt3l |
A |
G |
7: 44,783,428 (GRCm39) |
F146S |
probably damaging |
Het |
Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
Gm11360 |
T |
A |
13: 28,140,295 (GRCm39) |
I53N |
probably damaging |
Het |
Gpbp1l1 |
T |
A |
4: 116,444,656 (GRCm39) |
V275D |
possibly damaging |
Het |
Harbi1 |
T |
A |
2: 91,543,100 (GRCm39) |
M187K |
possibly damaging |
Het |
Has3 |
T |
C |
8: 107,605,054 (GRCm39) |
V420A |
possibly damaging |
Het |
Huwe1 |
C |
A |
X: 150,671,444 (GRCm39) |
T1012K |
probably benign |
Het |
Iqcg |
G |
A |
16: 32,837,345 (GRCm39) |
|
probably benign |
Het |
Itga4 |
G |
A |
2: 79,103,143 (GRCm39) |
G111R |
probably damaging |
Het |
Keap1 |
A |
G |
9: 21,145,282 (GRCm39) |
S243P |
probably damaging |
Het |
Kmt2a |
C |
T |
9: 44,732,472 (GRCm39) |
|
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
Ltbp3 |
A |
T |
19: 5,806,610 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
C |
T |
8: 120,249,238 (GRCm39) |
C684Y |
possibly damaging |
Het |
Mcm3ap |
A |
T |
10: 76,343,171 (GRCm39) |
I1688F |
probably damaging |
Het |
Midn |
C |
T |
10: 79,987,553 (GRCm39) |
T21I |
probably damaging |
Het |
Naf1 |
C |
T |
8: 67,342,114 (GRCm39) |
P580S |
possibly damaging |
Het |
Nherf4 |
G |
A |
9: 44,160,158 (GRCm39) |
R349C |
probably benign |
Het |
Nlrp3 |
A |
T |
11: 59,440,487 (GRCm39) |
E688V |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,470,129 (GRCm39) |
H259R |
probably damaging |
Het |
Nxpe4 |
A |
G |
9: 48,310,284 (GRCm39) |
T516A |
probably damaging |
Het |
Oas1g |
T |
A |
5: 121,017,230 (GRCm39) |
T275S |
probably damaging |
Het |
Or5aq6 |
T |
C |
2: 86,922,974 (GRCm39) |
T256A |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or6c215 |
C |
A |
10: 129,638,169 (GRCm39) |
C75F |
probably damaging |
Het |
Or6c75 |
C |
A |
10: 129,337,339 (GRCm39) |
C195* |
probably null |
Het |
Or9i1b |
A |
G |
19: 13,896,717 (GRCm39) |
E111G |
probably damaging |
Het |
Peg10 |
GGAT |
GGATCCCCATCATGAT |
6: 4,756,472 (GRCm39) |
|
probably benign |
Het |
Piezo1 |
T |
A |
8: 123,217,866 (GRCm39) |
Y819F |
probably damaging |
Het |
Plekhg2 |
C |
A |
7: 28,070,591 (GRCm39) |
G20C |
probably damaging |
Het |
Polq |
A |
G |
16: 36,881,663 (GRCm39) |
T997A |
possibly damaging |
Het |
Polr3a |
T |
A |
14: 24,503,264 (GRCm39) |
Q1190L |
possibly damaging |
Het |
Ppp1r15a |
T |
A |
7: 45,173,173 (GRCm39) |
K800* |
probably null |
Het |
Prkdc |
T |
A |
16: 15,555,769 (GRCm39) |
M2181K |
probably damaging |
Het |
Pskh1 |
C |
A |
8: 106,639,536 (GRCm39) |
A72E |
probably benign |
Het |
Purg |
T |
C |
8: 33,877,321 (GRCm39) |
Y320H |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,988,034 (GRCm39) |
|
probably null |
Het |
Rnps1 |
T |
A |
17: 24,644,089 (GRCm39) |
|
probably benign |
Het |
Scgb2b21 |
A |
T |
7: 33,219,233 (GRCm39) |
V57E |
probably benign |
Het |
Sdhaf2 |
A |
T |
19: 10,502,439 (GRCm39) |
I7N |
probably benign |
Het |
Six4 |
A |
G |
12: 73,150,899 (GRCm39) |
Y549H |
probably damaging |
Het |
Slc4a10 |
G |
T |
2: 62,064,772 (GRCm39) |
V209F |
possibly damaging |
Het |
Slc4a11 |
C |
A |
2: 130,526,927 (GRCm39) |
V734F |
probably benign |
Het |
Stk4 |
T |
A |
2: 163,959,904 (GRCm39) |
M27K |
possibly damaging |
Het |
Tecrl |
A |
T |
5: 83,461,174 (GRCm39) |
C79* |
probably null |
Het |
Tgm3 |
G |
T |
2: 129,880,333 (GRCm39) |
V380L |
possibly damaging |
Het |
Tiam2 |
A |
T |
17: 3,501,120 (GRCm39) |
M920L |
probably benign |
Het |
Tjp1 |
T |
C |
7: 64,968,237 (GRCm39) |
N729S |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,511,581 (GRCm39) |
L223P |
probably damaging |
Het |
Tmem268 |
T |
C |
4: 63,484,005 (GRCm39) |
|
probably null |
Het |
Tmpo |
A |
T |
10: 90,998,818 (GRCm39) |
I323K |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,440,549 (GRCm39) |
S302G |
probably benign |
Het |
Trip11 |
C |
A |
12: 101,852,127 (GRCm39) |
E361* |
probably null |
Het |
Tspyl3 |
T |
A |
2: 153,067,076 (GRCm39) |
N54I |
possibly damaging |
Het |
Upp2 |
A |
T |
2: 58,668,021 (GRCm39) |
Y220F |
probably damaging |
Het |
Usp22 |
G |
T |
11: 61,052,290 (GRCm39) |
|
probably null |
Het |
Vezt |
ACTCCTCCT |
ACTCCT |
10: 93,809,793 (GRCm39) |
|
probably benign |
Het |
Vmn1r235 |
G |
T |
17: 21,482,562 (GRCm39) |
G296W |
probably damaging |
Het |
Vmn1r89 |
T |
C |
7: 12,954,113 (GRCm39) |
V94A |
possibly damaging |
Het |
Zfp607a |
A |
T |
7: 27,565,073 (GRCm39) |
E80V |
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 |
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 |
|
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'- AGGCCCCTTACACTGTATGC -3'
(R):5'- GACGAATCAAGAGAACCCTCGG -3'
Sequencing Primer
(F):5'- TTCATGGTGGTCCTGAAC -3'
(R):5'- AACCCTCGGCCTTGTTAGGATAG -3'
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Posted On |
2015-06-20 |