Incidental Mutation 'R2080:Ogdh'
| ID |
229429 |
| 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 |
040085-MU
|
| Accession Numbers |
Genbank: NM_010956; MGI: 1098267; Ensembl: ENSMUST00000093350 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6291633-6356642 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6349393 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 753
(M753K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003461]
[ENSMUST00000081894]
[ENSMUST00000093350]
[ENSMUST00000101554]
|
| AlphaFold |
Q60597 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003461
AA Change: M753K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
AA Change: M753K
| 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: M749K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
AA Change: M749K
| 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: M764K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
AA Change: M764K
| 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: M753K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
AA Change: M753K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 87,971,933 |
D183V |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,885,719 |
D858E |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,156,604 |
T370A |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,558,094 |
W449R |
probably benign |
Het |
| Aox3 |
A |
T |
1: 58,186,280 |
I1179F |
probably benign |
Het |
| Atp10a |
C |
A |
7: 58,824,327 |
Q1121K |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,951,148 |
A123V |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,198,141 |
K16E |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,656,096 |
D779N |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,308,537 |
R123Q |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,156,816 |
R1895Q |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,616,206 |
T282S |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,859,962 |
T948A |
probably benign |
Het |
| Ednrb |
A |
T |
14: 103,843,100 |
I126N |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 124,948,306 |
M250T |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,253,468 |
I337L |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,948,745 |
I219T |
probably benign |
Het |
| Gm13030 |
T |
C |
4: 138,873,419 |
|
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,926,661 |
C637S |
probably benign |
Het |
| Hist1h1a |
A |
G |
13: 23,763,949 |
N78S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,814,291 |
I1168T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,896,552 |
V509A |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,354,717 |
D981G |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,725,960 |
E1164G |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,079,527 |
V213E |
probably damaging |
Het |
| Masp1 |
T |
G |
16: 23,491,959 |
D241A |
probably damaging |
Het |
| Mfsd13b |
A |
G |
7: 120,991,824 |
I1V |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,869,754 |
V4531A |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,174,941 |
|
probably null |
Het |
| Naip5 |
A |
G |
13: 100,221,533 |
L1065P |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 15,140,219 |
|
probably benign |
Het |
| Nemf |
A |
G |
12: 69,353,786 |
|
probably benign |
Het |
| Nfil3 |
A |
T |
13: 52,968,033 |
D278E |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 102,180,424 |
N393S |
probably damaging |
Het |
| Olfr11 |
A |
T |
13: 21,639,436 |
V29E |
probably damaging |
Het |
| Olfr1297 |
C |
T |
2: 111,621,739 |
V112M |
probably benign |
Het |
| Olfr273 |
T |
C |
4: 52,855,568 |
Y315C |
probably benign |
Het |
| Olfr561 |
T |
C |
7: 102,775,243 |
F240L |
probably benign |
Het |
| Olfr901 |
T |
A |
9: 38,431,082 |
S267T |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,477,123 |
K262E |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,727,013 |
|
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,923,880 |
M406K |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,242,847 |
Q286* |
probably null |
Het |
| Scube2 |
T |
C |
7: 109,808,505 |
T743A |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,290,376 |
L69* |
probably null |
Het |
| Tlk1 |
T |
A |
2: 70,738,445 |
K404N |
probably damaging |
Het |
| Tmem59 |
C |
A |
4: 107,178,774 |
L16I |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,737,082 |
E426G |
probably benign |
Het |
| Xdh |
A |
T |
17: 73,909,325 |
S709T |
probably damaging |
Het |
| Yjefn3 |
T |
C |
8: 69,889,487 |
N28D |
probably damaging |
Het |
| Zfp598 |
A |
C |
17: 24,679,667 |
D480A |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCCCCTTACACTGTATG -3'
(R):5'- CGAATCAAGAGAACCCTCGG -3'
Sequencing Primer
(F):5'- AGCTCGCTGTCTGAGTACG -3'
(R):5'- AACCCTCGGCCTTGTTAGGATAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation