Incidental Mutation 'R1873:Ogdh'
| ID |
210955 |
| 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 |
039895-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1873 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6241633-6306642 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 6290438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000003461
Gene: ENSMUSG00000020456
| 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
|
| SMART Domains |
Protein: ENSMUSP00000080569
Gene: ENSMUSG00000020456
| 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
|
| SMART Domains |
Protein: ENSMUSP00000091041
Gene: ENSMUSG00000020456
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099090
Gene: ENSMUSG00000020456
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
98% (82/84) |
| 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 |
|---|
| Abca8b |
T |
A |
11: 109,870,781 (GRCm39) |
I124L |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
| Adam34 |
A |
C |
8: 44,104,843 (GRCm39) |
N267K |
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,503,551 (GRCm39) |
D301G |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,536,886 (GRCm39) |
D40Y |
probably damaging |
Het |
| Cacna2d2 |
T |
G |
9: 107,391,071 (GRCm39) |
M400R |
probably damaging |
Het |
| Cd96 |
C |
A |
16: 45,938,335 (GRCm39) |
L43F |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,871,560 (GRCm39) |
E104G |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,881,389 (GRCm39) |
I358V |
probably benign |
Het |
| Cfhr4 |
C |
T |
1: 139,702,398 (GRCm39) |
E29K |
probably damaging |
Het |
| Chil4 |
C |
T |
3: 106,113,414 (GRCm39) |
E168K |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,452,590 (GRCm39) |
V631A |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,552,902 (GRCm39) |
A649V |
possibly damaging |
Het |
| Commd9 |
A |
G |
2: 101,727,502 (GRCm39) |
T99A |
probably benign |
Het |
| Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
| Cyth3 |
T |
A |
5: 143,683,516 (GRCm39) |
H138Q |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,495,691 (GRCm39) |
|
probably benign |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,652,303 (GRCm39) |
V1135A |
probably benign |
Het |
| Glcci1 |
C |
A |
6: 8,537,837 (GRCm39) |
H152N |
probably benign |
Het |
| Gm10477 |
T |
A |
X: 55,570,127 (GRCm39) |
F9Y |
probably damaging |
Het |
| Gnrhr |
A |
G |
5: 86,330,060 (GRCm39) |
L320P |
probably damaging |
Het |
| Gorasp1 |
A |
T |
9: 119,759,306 (GRCm39) |
S138T |
probably benign |
Het |
| Hars1 |
C |
A |
18: 36,900,294 (GRCm39) |
Q469H |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,286,111 (GRCm39) |
K34E |
probably damaging |
Het |
| Hscb |
T |
C |
5: 110,978,823 (GRCm39) |
I198V |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,567,057 (GRCm39) |
S39P |
probably damaging |
Het |
| Kcnk12 |
G |
T |
17: 88,053,499 (GRCm39) |
Q388K |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,874,104 (GRCm39) |
I548T |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,261,880 (GRCm39) |
Y351H |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,952 (GRCm39) |
I678F |
probably damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,531 (GRCm39) |
I194N |
probably damaging |
Het |
| Ms4a6d |
A |
G |
19: 11,579,223 (GRCm39) |
S85P |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,145,569 (GRCm39) |
Y1351N |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,322,789 (GRCm39) |
D73G |
probably damaging |
Het |
| Mzt1 |
C |
T |
14: 99,278,097 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
A |
14: 123,521,013 (GRCm39) |
H1631Y |
probably benign |
Het |
| Ncf2 |
A |
G |
1: 152,701,661 (GRCm39) |
N213S |
probably benign |
Het |
| Nf1 |
C |
A |
11: 79,437,987 (GRCm39) |
T99K |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,749,843 (GRCm39) |
S547G |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,112,587 (GRCm39) |
I190F |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,474,877 (GRCm39) |
Y841C |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,691 (GRCm39) |
M1L |
probably damaging |
Het |
| Or5b12 |
C |
T |
19: 12,896,852 (GRCm39) |
V274M |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,918,767 (GRCm39) |
V948I |
probably damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,264,824 (GRCm39) |
D880G |
probably benign |
Het |
| Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
| Polg |
A |
G |
7: 79,106,241 (GRCm39) |
L678S |
probably benign |
Het |
| Ptprm |
C |
T |
17: 66,995,350 (GRCm39) |
V1293I |
probably damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,442 (GRCm39) |
D195E |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 124,387,990 (GRCm39) |
R241W |
probably damaging |
Het |
| Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,621,276 (GRCm39) |
|
probably benign |
Het |
| Sost |
T |
C |
11: 101,855,069 (GRCm39) |
E80G |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 69,935,744 (GRCm39) |
|
probably benign |
Het |
| Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
| Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
| Taf1b |
T |
A |
12: 24,606,668 (GRCm39) |
L496Q |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,173,786 (GRCm39) |
I976T |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,390,431 (GRCm39) |
V376D |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,680 (GRCm39) |
D606G |
probably damaging |
Het |
| Tmc2 |
A |
C |
2: 130,090,676 (GRCm39) |
N674T |
possibly damaging |
Het |
| Top3a |
C |
A |
11: 60,638,810 (GRCm39) |
E562* |
probably null |
Het |
| Umodl1 |
A |
T |
17: 31,201,238 (GRCm39) |
D389V |
probably damaging |
Het |
| Uso1 |
T |
C |
5: 92,340,718 (GRCm39) |
|
probably benign |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,223 (GRCm39) |
V293A |
possibly damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,840 (GRCm39) |
T52A |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,479 (GRCm39) |
V461I |
possibly damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,582,415 (GRCm39) |
I7F |
probably benign |
Het |
| Vps11 |
A |
G |
9: 44,271,233 (GRCm39) |
F80S |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,940,647 (GRCm39) |
S258G |
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,123 (GRCm39) |
D3G |
probably benign |
Het |
| Zc3hav1 |
C |
T |
6: 38,309,692 (GRCm39) |
V377I |
possibly damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,654 (GRCm39) |
|
probably null |
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 |
|
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'- TTGCCATTGAGAGTGAACCTC -3'
(R):5'- ACTCACAGACCTCTTAGGGG -3'
Sequencing Primer
(F):5'- GAGTGAACCTCTCCAACCAAC -3'
(R):5'- AGACCTCTTAGGGGCCTCAC -3'
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| Posted On |
2014-06-30 |
Incidental Mutation