Incidental Mutation 'R1591:Ogdh'
| ID |
175511 |
| 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 |
039628-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6299384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 750
(F750S)
|
| 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: F750S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: F750S
| 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: F746S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: F746S
| 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: F761S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: F761S
| 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: F750S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: F750S
| 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 |
0.9752 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
G |
T |
5: 100,957,505 (GRCm39) |
Q201K |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,341,484 (GRCm39) |
I829F |
possibly damaging |
Het |
| Acvr1b |
G |
T |
15: 101,091,905 (GRCm39) |
V62L |
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,453,452 (GRCm39) |
I90F |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,621,872 (GRCm39) |
L703P |
probably damaging |
Het |
| Arf3 |
T |
C |
15: 98,640,669 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
C |
6: 7,678,007 (GRCm39) |
D357G |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,827,438 (GRCm39) |
M2461T |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,976,563 (GRCm39) |
I1584V |
probably benign |
Het |
| Bub3 |
T |
C |
7: 131,163,337 (GRCm39) |
|
probably null |
Het |
| Camkk2 |
A |
G |
5: 122,895,621 (GRCm39) |
|
probably null |
Het |
| Cand1 |
G |
T |
10: 119,047,774 (GRCm39) |
T572K |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,774,606 (GRCm39) |
S235R |
possibly damaging |
Het |
| Cdh24 |
T |
C |
14: 54,873,799 (GRCm39) |
T452A |
probably benign |
Het |
| Cdh4 |
T |
C |
2: 179,528,657 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
A |
G |
2: 145,987,378 (GRCm39) |
R1060G |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,710,166 (GRCm39) |
D314G |
probably damaging |
Het |
| Cplx3 |
C |
T |
9: 57,523,085 (GRCm39) |
V125I |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,950,710 (GRCm39) |
I3500F |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 30,994,289 (GRCm39) |
Q2858K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,053,583 (GRCm39) |
E2884K |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,652,840 (GRCm39) |
I485N |
probably benign |
Het |
| Fap |
T |
C |
2: 62,384,201 (GRCm39) |
K2E |
probably damaging |
Het |
| Fgfr1 |
G |
A |
8: 26,062,736 (GRCm39) |
G671D |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,206,201 (GRCm39) |
R162Q |
possibly damaging |
Het |
| Grap2 |
A |
T |
15: 80,532,649 (GRCm39) |
Y272F |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,766,200 (GRCm39) |
W246R |
probably damaging |
Het |
| Kcna3 |
A |
T |
3: 106,944,345 (GRCm39) |
I203F |
probably damaging |
Het |
| Kcng1 |
T |
C |
2: 168,110,630 (GRCm39) |
E178G |
possibly damaging |
Het |
| Kif19a |
A |
C |
11: 114,680,057 (GRCm39) |
H798P |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,077,055 (GRCm39) |
L359P |
probably damaging |
Het |
| Krt6a |
A |
T |
15: 101,600,792 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
T |
10: 127,441,475 (GRCm39) |
S216N |
probably benign |
Het |
| Lrp3 |
A |
G |
7: 34,901,790 (GRCm39) |
V676A |
probably benign |
Het |
| Lrrc63 |
T |
A |
14: 75,363,332 (GRCm39) |
K266N |
possibly damaging |
Het |
| Mccc1 |
C |
T |
3: 36,044,006 (GRCm39) |
V246M |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,700,092 (GRCm39) |
V1395A |
possibly damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,921,755 (GRCm39) |
R71* |
probably null |
Het |
| Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
| Or1ak2 |
C |
A |
2: 36,827,990 (GRCm39) |
N286K |
probably damaging |
Het |
| Or51aa2 |
T |
G |
7: 103,188,274 (GRCm39) |
T56P |
probably benign |
Het |
| Or5p60 |
T |
A |
7: 107,723,571 (GRCm39) |
I300F |
possibly damaging |
Het |
| Or8b3 |
A |
G |
9: 38,314,232 (GRCm39) |
T18A |
probably damaging |
Het |
| Or8b42 |
A |
T |
9: 38,341,707 (GRCm39) |
N43I |
probably damaging |
Het |
| Osbpl11 |
A |
C |
16: 33,030,353 (GRCm39) |
I194L |
probably benign |
Het |
| Pacsin2 |
T |
C |
15: 83,269,252 (GRCm39) |
E14G |
probably damaging |
Het |
| Pate7 |
T |
C |
9: 35,687,952 (GRCm39) |
D96G |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,878 (GRCm39) |
S223P |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,693,904 (GRCm39) |
R109K |
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 51,989,916 (GRCm39) |
I14T |
possibly damaging |
Het |
| Rdh12 |
A |
T |
12: 79,258,278 (GRCm39) |
T102S |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,288,520 (GRCm39) |
C132* |
probably null |
Het |
| Rufy1 |
G |
A |
11: 50,285,755 (GRCm39) |
L621F |
probably damaging |
Het |
| Ruvbl2 |
C |
T |
7: 45,074,135 (GRCm39) |
R253H |
possibly damaging |
Het |
| Sdf2 |
A |
G |
11: 78,145,819 (GRCm39) |
E172G |
probably damaging |
Het |
| Skint5 |
C |
T |
4: 113,856,651 (GRCm39) |
|
probably null |
Het |
| Slc25a27 |
A |
G |
17: 43,964,315 (GRCm39) |
I185T |
probably benign |
Het |
| Slc41a3 |
A |
C |
6: 90,610,677 (GRCm39) |
K180Q |
probably benign |
Het |
| Slc7a14 |
A |
C |
3: 31,291,598 (GRCm39) |
F227V |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,756,142 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
A |
T |
11: 116,656,689 (GRCm39) |
D483E |
probably damaging |
Het |
| Tes |
A |
G |
6: 17,097,441 (GRCm39) |
K183R |
probably damaging |
Het |
| Tgfbr1 |
G |
T |
4: 47,403,471 (GRCm39) |
D290Y |
probably damaging |
Het |
| Tifab |
T |
A |
13: 56,324,164 (GRCm39) |
Y93F |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,848,196 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
T |
A |
17: 43,396,265 (GRCm39) |
S516R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,606,389 (GRCm39) |
Y18140C |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,244,747 (GRCm39) |
S3692T |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,149,459 (GRCm39) |
|
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,348,921 (GRCm39) |
T548A |
probably benign |
Het |
| Zfp870 |
C |
T |
17: 33,102,990 (GRCm39) |
G114D |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATCCCCATGAACCACCTTTGG -3'
(R):5'- AGTATCAGCTACGTGTTGTTTGCCC -3'
Sequencing Primer
(F):5'- GTATGCAACAGCTCGCTGTC -3'
(R):5'- ATGCAGATGGGCCACTCTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation