Incidental Mutation 'R5575:Ogdhl'
| ID |
437185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogdhl
|
| Ensembl Gene |
ENSMUSG00000021913 |
| Gene Name |
oxoglutarate dehydrogenase-like |
| Synonyms |
|
| MMRRC Submission |
043130-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5575 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32043976-32070108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32047804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 18
(L18P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022480]
[ENSMUST00000228529]
|
| AlphaFold |
E9Q7L0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022480
AA Change: L18P
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022480
Gene: ENSMUSG00000021913
AA Change: L18P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-oxogl_dehyd_N
|
44 |
81 |
2.7e-18 |
PFAM |
|
Blast:Transket_pyr
|
118 |
154 |
8e-14 |
BLAST |
|
Pfam:E1_dh
|
262 |
588 |
1.8e-88 |
PFAM |
|
Transket_pyr
|
657 |
870 |
2.64e-51 |
SMART |
|
Pfam:OxoGdeHyase_C
|
874 |
1019 |
8.3e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228286
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228529
AA Change: L18P
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (57/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,916,195 (GRCm39) |
|
probably null |
Het |
| Adrm1 |
T |
G |
2: 179,817,509 (GRCm39) |
D325E |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,013,213 (GRCm39) |
V433E |
probably damaging |
Het |
| Aplf |
A |
C |
6: 87,623,129 (GRCm39) |
C338G |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,991,149 (GRCm39) |
T681A |
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,405,015 (GRCm39) |
K81R |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,702,066 (GRCm39) |
H286Q |
probably damaging |
Het |
| Cfap61 |
G |
A |
2: 145,859,313 (GRCm39) |
V434I |
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,417,642 (GRCm39) |
I1311N |
probably damaging |
Het |
| Col9a3 |
A |
T |
2: 180,240,639 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,168,447 (GRCm39) |
C671S |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,508,740 (GRCm39) |
V245A |
probably damaging |
Het |
| Epha5 |
G |
A |
5: 84,564,361 (GRCm39) |
R2W |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,420,365 (GRCm39) |
|
probably benign |
Het |
| Gm3453 |
A |
G |
14: 5,978,205 (GRCm38) |
V66A |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,359,707 (GRCm39) |
I28V |
probably damaging |
Het |
| Hk3 |
A |
T |
13: 55,162,583 (GRCm39) |
D88E |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,060,613 (GRCm39) |
T375A |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,457,925 (GRCm39) |
E154V |
possibly damaging |
Het |
| Il7r |
A |
G |
15: 9,508,273 (GRCm39) |
S350P |
probably benign |
Het |
| Isx |
T |
C |
8: 75,619,429 (GRCm39) |
L207P |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,985,450 (GRCm39) |
E197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,855,787 (GRCm39) |
Q675* |
probably null |
Het |
| Marchf1 |
T |
A |
8: 66,920,962 (GRCm39) |
V217E |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,578,485 (GRCm39) |
I157T |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,574,832 (GRCm39) |
L147Q |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,231,479 (GRCm39) |
V16D |
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,991 (GRCm39) |
H892L |
probably benign |
Het |
| Pikfyve |
A |
C |
1: 65,312,889 (GRCm39) |
H2089P |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,301,523 (GRCm39) |
L1501Q |
possibly damaging |
Het |
| Ppp2r5c |
T |
C |
12: 110,519,266 (GRCm39) |
F246S |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,432 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
G |
A |
3: 119,514,438 (GRCm39) |
P463L |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 118,964,914 (GRCm39) |
D274G |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,328,405 (GRCm39) |
V2807A |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
C |
T |
14: 64,268,433 (GRCm39) |
H1340Y |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,778,118 (GRCm39) |
H2133L |
possibly damaging |
Het |
| Scgb1c1 |
G |
A |
7: 140,426,024 (GRCm39) |
G40E |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,871 (GRCm39) |
I703T |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,961,138 (GRCm39) |
A975T |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,787 (GRCm39) |
D400G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,378 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
C |
17: 84,723,827 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
G |
17: 66,862,321 (GRCm39) |
S546P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,631 (GRCm39) |
D286G |
probably benign |
Het |
| Tmem67 |
A |
T |
4: 12,047,886 (GRCm39) |
V815D |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,870,018 (GRCm39) |
L441P |
possibly damaging |
Het |
| Vapa |
A |
G |
17: 65,920,247 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,635 (GRCm39) |
Y582* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,930,065 (GRCm39) |
K3934I |
probably damaging |
Het |
| Wrn |
G |
A |
8: 33,826,158 (GRCm39) |
T168I |
probably benign |
Het |
|
| Other mutations in Ogdhl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Ogdhl
|
APN |
14 |
32,055,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00425:Ogdhl
|
APN |
14 |
32,068,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01509:Ogdhl
|
APN |
14 |
32,059,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01704:Ogdhl
|
APN |
14 |
32,059,588 (GRCm39) |
splice site |
probably benign |
|
|
IGL01760:Ogdhl
|
APN |
14 |
32,061,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Ogdhl
|
APN |
14 |
32,065,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Ogdhl
|
APN |
14 |
32,067,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02834:Ogdhl
|
APN |
14 |
32,047,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Ogdhl
|
APN |
14 |
32,064,029 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0044:Ogdhl
|
UTSW |
14 |
32,061,285 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0044:Ogdhl
|
UTSW |
14 |
32,061,285 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0207:Ogdhl
|
UTSW |
14 |
32,063,994 (GRCm39) |
splice site |
probably null |
|
|
R0322:Ogdhl
|
UTSW |
14 |
32,059,534 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0357:Ogdhl
|
UTSW |
14 |
32,068,415 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0417:Ogdhl
|
UTSW |
14 |
32,048,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0677:Ogdhl
|
UTSW |
14 |
32,061,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Ogdhl
|
UTSW |
14 |
32,068,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Ogdhl
|
UTSW |
14 |
32,068,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Ogdhl
|
UTSW |
14 |
32,062,624 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1589:Ogdhl
|
UTSW |
14 |
32,047,822 (GRCm39) |
missense |
probably benign |
|
|
R1831:Ogdhl
|
UTSW |
14 |
32,059,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2059:Ogdhl
|
UTSW |
14 |
32,054,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Ogdhl
|
UTSW |
14 |
32,047,891 (GRCm39) |
missense |
probably benign |
|
|
R2179:Ogdhl
|
UTSW |
14 |
32,057,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2656:Ogdhl
|
UTSW |
14 |
32,054,783 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3607:Ogdhl
|
UTSW |
14 |
32,057,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Ogdhl
|
UTSW |
14 |
32,047,842 (GRCm39) |
missense |
probably benign |
|
|
R4668:Ogdhl
|
UTSW |
14 |
32,054,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5419:Ogdhl
|
UTSW |
14 |
32,061,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Ogdhl
|
UTSW |
14 |
32,054,730 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5812:Ogdhl
|
UTSW |
14 |
32,054,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Ogdhl
|
UTSW |
14 |
32,049,071 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6224:Ogdhl
|
UTSW |
14 |
32,064,018 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7834:Ogdhl
|
UTSW |
14 |
32,062,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7837:Ogdhl
|
UTSW |
14 |
32,068,415 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8166:Ogdhl
|
UTSW |
14 |
32,059,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Ogdhl
|
UTSW |
14 |
32,066,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Ogdhl
|
UTSW |
14 |
32,059,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Ogdhl
|
UTSW |
14 |
32,061,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ogdhl
|
UTSW |
14 |
32,068,368 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Ogdhl
|
UTSW |
14 |
32,065,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCTTTCCATGGGACCATAG -3'
(R):5'- TCATGGCTGGTTCTCACAATC -3'
Sequencing Primer
(F):5'- CCATAGGGGTTAGGAGTGAACTC -3'
(R):5'- GCTTCCTTCCCATAAAATGCAGAATG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation