Incidental Mutation 'R0681:Ogfod2'
ID |
60964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ogfod2
|
Ensembl Gene |
ENSMUSG00000023707 |
Gene Name |
2-oxoglutarate and iron-dependent oxygenase domain containing 2 |
Synonyms |
1300006G11Rik, 5730405M13Rik |
MMRRC Submission |
038866-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R0681 (G1)
|
Quality Score |
122 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124250384-124253544 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124250907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 62
(E62G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024470]
[ENSMUST00000031351]
[ENSMUST00000119269]
[ENSMUST00000122394]
[ENSMUST00000198505]
[ENSMUST00000198770]
[ENSMUST00000196627]
[ENSMUST00000145667]
[ENSMUST00000196401]
[ENSMUST00000149835]
|
AlphaFold |
Q9CQ04 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024470
AA Change: E62G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000024470 Gene: ENSMUSG00000023707 AA Change: E62G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
Blast:P4Hc
|
42 |
100 |
2e-6 |
BLAST |
low complexity region
|
102 |
112 |
N/A |
INTRINSIC |
P4Hc
|
136 |
307 |
7.91e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031351
|
SMART Domains |
Protein: ENSMUSP00000031351 Gene: ENSMUSG00000029404
Domain | Start | End | E-Value | Type |
Pfam:SR-25
|
7 |
227 |
2.7e-104 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119269
AA Change: E62G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112701 Gene: ENSMUSG00000023707 AA Change: E62G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
Blast:P4Hc
|
42 |
133 |
1e-22 |
BLAST |
Blast:P4Hc
|
136 |
175 |
1e-20 |
BLAST |
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122394
|
SMART Domains |
Protein: ENSMUSP00000112506 Gene: ENSMUSG00000029404
Domain | Start | End | E-Value | Type |
Pfam:SR-25
|
2 |
199 |
6.3e-85 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127989
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130140
|
Predicted Effect |
probably null
Transcript: ENSMUST00000198505
AA Change: S56G
|
SMART Domains |
Protein: ENSMUSP00000142965 Gene: ENSMUSG00000023707 AA Change: S56G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198770
AA Change: E31G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143318 Gene: ENSMUSG00000023707 AA Change: E31G
Domain | Start | End | E-Value | Type |
Blast:P4Hc
|
11 |
102 |
7e-24 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000196627
AA Change: E62G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143698 Gene: ENSMUSG00000023707 AA Change: E62G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
Blast:P4Hc
|
42 |
133 |
1e-23 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199457
AA Change: E61G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136955
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145667
|
SMART Domains |
Protein: ENSMUSP00000122377 Gene: ENSMUSG00000029404
Domain | Start | End | E-Value | Type |
Pfam:SR-25
|
19 |
227 |
3e-86 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196401
|
SMART Domains |
Protein: ENSMUSP00000142496 Gene: ENSMUSG00000029404
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149835
|
SMART Domains |
Protein: ENSMUSP00000116269 Gene: ENSMUSG00000029404
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
32 |
N/A |
INTRINSIC |
SCOP:d1l9ha_
|
58 |
84 |
7e-3 |
SMART |
|
Meta Mutation Damage Score |
0.5562 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,676,649 (GRCm39) |
D1341Y |
probably damaging |
Het |
Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
Cdk13 |
A |
G |
13: 17,895,882 (GRCm39) |
|
probably benign |
Het |
Cfhr1 |
A |
T |
1: 139,485,249 (GRCm39) |
S66T |
probably damaging |
Het |
Cldn6 |
C |
A |
17: 23,900,167 (GRCm39) |
Q44K |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,612,550 (GRCm39) |
V863A |
possibly damaging |
Het |
Col6a4 |
T |
A |
9: 105,944,343 (GRCm39) |
K1044* |
probably null |
Het |
Cyb561d1 |
A |
G |
3: 108,106,583 (GRCm39) |
V212A |
probably benign |
Het |
Cyp1b1 |
A |
G |
17: 80,021,275 (GRCm39) |
S156P |
probably damaging |
Het |
Dock7 |
G |
A |
4: 98,904,941 (GRCm39) |
H645Y |
probably damaging |
Het |
Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
Fastkd3 |
C |
T |
13: 68,740,047 (GRCm39) |
|
probably benign |
Het |
Galnt10 |
T |
A |
11: 57,660,366 (GRCm39) |
V268D |
probably damaging |
Het |
Grb14 |
G |
T |
2: 64,747,631 (GRCm39) |
A10E |
probably damaging |
Het |
Grin2c |
A |
G |
11: 115,140,479 (GRCm39) |
V1213A |
probably benign |
Het |
Grip1 |
C |
T |
10: 119,846,135 (GRCm39) |
T570I |
probably damaging |
Het |
Hif1an |
T |
C |
19: 44,551,762 (GRCm39) |
Y71H |
probably benign |
Het |
Hsd17b11 |
T |
A |
5: 104,151,072 (GRCm39) |
I221L |
probably benign |
Het |
Htra1 |
A |
T |
7: 130,581,027 (GRCm39) |
|
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,891,591 (GRCm39) |
E2308G |
possibly damaging |
Het |
Mapk9 |
T |
A |
11: 49,760,072 (GRCm39) |
S129T |
probably damaging |
Het |
Med22 |
T |
C |
2: 26,800,391 (GRCm39) |
T13A |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mtus1 |
A |
T |
8: 41,446,554 (GRCm39) |
L489Q |
probably damaging |
Het |
Naprt |
G |
A |
15: 75,765,481 (GRCm39) |
P120S |
probably damaging |
Het |
Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
Or13a1 |
A |
T |
6: 116,471,361 (GRCm39) |
S264C |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
Palm |
A |
C |
10: 79,655,327 (GRCm39) |
T362P |
probably benign |
Het |
Pcare |
T |
G |
17: 72,056,509 (GRCm39) |
H1056P |
probably benign |
Het |
Pcdh8 |
T |
C |
14: 80,007,400 (GRCm39) |
T388A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,725,332 (GRCm39) |
I1397V |
unknown |
Het |
Per1 |
A |
G |
11: 68,992,027 (GRCm39) |
E127G |
probably damaging |
Het |
Plekha1 |
T |
C |
7: 130,502,353 (GRCm39) |
V30A |
possibly damaging |
Het |
Pramel24 |
A |
T |
4: 143,454,622 (GRCm39) |
T307S |
probably benign |
Het |
Rab26 |
A |
G |
17: 24,746,940 (GRCm39) |
|
probably benign |
Het |
Rasal2 |
T |
C |
1: 156,984,750 (GRCm39) |
D999G |
possibly damaging |
Het |
Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
Rrp1b |
T |
C |
17: 32,279,369 (GRCm39) |
S677P |
probably damaging |
Het |
Scaf4 |
G |
A |
16: 90,046,582 (GRCm39) |
P485S |
unknown |
Het |
Scn5a |
A |
T |
9: 119,368,706 (GRCm39) |
M273K |
probably damaging |
Het |
Sec22a |
C |
T |
16: 35,181,926 (GRCm39) |
|
probably null |
Het |
Slc10a6 |
C |
A |
5: 103,760,315 (GRCm39) |
V227F |
possibly damaging |
Het |
Slc39a3 |
C |
G |
10: 80,869,565 (GRCm39) |
E31Q |
probably benign |
Het |
Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
Tdrd7 |
T |
A |
4: 46,016,879 (GRCm39) |
M673K |
probably benign |
Het |
Trim8 |
C |
A |
19: 46,503,532 (GRCm39) |
S361R |
possibly damaging |
Het |
Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
Vmn1r46 |
A |
T |
6: 89,953,946 (GRCm39) |
D265V |
probably damaging |
Het |
Zbtb5 |
T |
C |
4: 44,993,787 (GRCm39) |
I532M |
probably damaging |
Het |
|
Other mutations in Ogfod2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02305:Ogfod2
|
APN |
5 |
124,250,910 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03304:Ogfod2
|
APN |
5 |
124,250,886 (GRCm39) |
missense |
probably damaging |
0.99 |
R0018:Ogfod2
|
UTSW |
5 |
124,252,588 (GRCm39) |
unclassified |
probably benign |
|
R0751:Ogfod2
|
UTSW |
5 |
124,251,539 (GRCm39) |
unclassified |
probably benign |
|
R1744:Ogfod2
|
UTSW |
5 |
124,252,219 (GRCm39) |
splice site |
probably null |
|
R1800:Ogfod2
|
UTSW |
5 |
124,253,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Ogfod2
|
UTSW |
5 |
124,250,843 (GRCm39) |
splice site |
probably null |
|
R3977:Ogfod2
|
UTSW |
5 |
124,251,272 (GRCm39) |
splice site |
probably null |
|
R4346:Ogfod2
|
UTSW |
5 |
124,251,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R4508:Ogfod2
|
UTSW |
5 |
124,251,317 (GRCm39) |
nonsense |
probably null |
|
R4537:Ogfod2
|
UTSW |
5 |
124,252,591 (GRCm39) |
unclassified |
probably benign |
|
R5795:Ogfod2
|
UTSW |
5 |
124,252,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R6647:Ogfod2
|
UTSW |
5 |
124,252,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7101:Ogfod2
|
UTSW |
5 |
124,252,558 (GRCm39) |
missense |
unknown |
|
R8001:Ogfod2
|
UTSW |
5 |
124,252,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R8139:Ogfod2
|
UTSW |
5 |
124,251,538 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9080:Ogfod2
|
UTSW |
5 |
124,253,007 (GRCm39) |
missense |
probably damaging |
0.99 |
R9258:Ogfod2
|
UTSW |
5 |
124,250,505 (GRCm39) |
missense |
probably benign |
|
R9619:Ogfod2
|
UTSW |
5 |
124,252,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R9675:Ogfod2
|
UTSW |
5 |
124,252,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGCTTTGCCCGAGTGTGCAAC -3'
(R):5'- TCTTAAACCTGACACTGCCCACTGC -3'
Sequencing Primer
(F):5'- AGCAGATCTTTCGGTGACC -3'
(R):5'- TGTCAAGGCGACCTGACAG -3'
|
Posted On |
2013-07-30 |