Incidental Mutation 'R3977:Ogfod2'
ID |
311068 |
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 |
040940-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R3977 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124250384-124253544 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 124251272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024470]
[ENSMUST00000031351]
[ENSMUST00000119269]
[ENSMUST00000122394]
[ENSMUST00000196627]
[ENSMUST00000196627]
[ENSMUST00000198505]
[ENSMUST00000198505]
[ENSMUST00000198770]
[ENSMUST00000145667]
[ENSMUST00000196401]
[ENSMUST00000149835]
|
AlphaFold |
Q9CQ04 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024470
|
SMART Domains |
Protein: ENSMUSP00000024470 Gene: ENSMUSG00000023707
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
|
SMART Domains |
Protein: ENSMUSP00000112701 Gene: ENSMUSG00000023707
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 |
noncoding transcript
Transcript: ENSMUST00000131094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148365
|
Predicted Effect |
probably null
Transcript: ENSMUST00000196627
|
SMART Domains |
Protein: ENSMUSP00000143698 Gene: ENSMUSG00000023707
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: ENSMUST00000196627
|
SMART Domains |
Protein: ENSMUSP00000143698 Gene: ENSMUSG00000023707
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: ENSMUST00000198505
|
SMART Domains |
Protein: ENSMUSP00000142965 Gene: ENSMUSG00000023707
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 null
Transcript: ENSMUST00000198505
|
SMART Domains |
Protein: ENSMUSP00000142965 Gene: ENSMUSG00000023707
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 benign
Transcript: ENSMUST00000198770
|
SMART Domains |
Protein: ENSMUSP00000143318 Gene: ENSMUSG00000023707
Domain | Start | End | E-Value | Type |
Blast:P4Hc
|
11 |
102 |
7e-24 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199457
|
Predicted Effect |
probably null
Transcript: ENSMUST00000199457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143062
|
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 |
0.2020 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
C |
T |
11: 105,872,664 (GRCm39) |
P942L |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
Bicral |
T |
A |
17: 47,141,917 (GRCm39) |
M1L |
unknown |
Het |
Brpf3 |
A |
G |
17: 29,026,016 (GRCm39) |
E363G |
possibly damaging |
Het |
Ccdc96 |
T |
C |
5: 36,642,510 (GRCm39) |
L172P |
possibly damaging |
Het |
Cln3 |
G |
A |
7: 126,179,308 (GRCm39) |
|
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,668,071 (GRCm39) |
I1526T |
possibly damaging |
Het |
Entr1 |
T |
A |
2: 26,274,805 (GRCm39) |
N364I |
probably damaging |
Het |
Fmo3 |
T |
G |
1: 162,786,147 (GRCm39) |
E281A |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,309,470 (GRCm39) |
I194V |
probably benign |
Het |
Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
Hk1 |
A |
G |
10: 62,126,098 (GRCm39) |
V396A |
probably benign |
Het |
Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
Il19 |
A |
T |
1: 130,863,770 (GRCm39) |
C74S |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,719,562 (GRCm39) |
T703A |
unknown |
Het |
Lrig2 |
A |
T |
3: 104,365,160 (GRCm39) |
V664E |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,348,430 (GRCm39) |
K2755R |
unknown |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mbtd1 |
A |
G |
11: 93,796,001 (GRCm39) |
N13D |
probably benign |
Het |
Mfsd4b5 |
T |
C |
10: 39,850,704 (GRCm39) |
|
probably benign |
Het |
Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
Or10q3 |
C |
A |
19: 11,847,869 (GRCm39) |
R237L |
possibly damaging |
Het |
Or10v1 |
T |
A |
19: 11,873,880 (GRCm39) |
F165Y |
probably damaging |
Het |
Or11a4 |
T |
C |
17: 37,536,049 (GRCm39) |
V11A |
probably benign |
Het |
Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
Or4c3 |
C |
A |
2: 89,852,089 (GRCm39) |
G107V |
probably damaging |
Het |
Or6c5 |
C |
T |
10: 129,074,377 (GRCm39) |
R120C |
probably damaging |
Het |
Pkmyt1 |
A |
G |
17: 23,954,305 (GRCm39) |
M362V |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,693,713 (GRCm39) |
S983P |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,780,957 (GRCm39) |
|
probably benign |
Het |
Raph1 |
A |
T |
1: 60,537,682 (GRCm39) |
D491E |
probably benign |
Het |
Rc3h1 |
A |
G |
1: 160,786,969 (GRCm39) |
|
probably null |
Het |
Rtn4 |
T |
C |
11: 29,643,819 (GRCm39) |
L5P |
probably benign |
Het |
Slc23a4 |
C |
T |
6: 34,930,723 (GRCm39) |
V400I |
probably benign |
Het |
Slco1a5 |
A |
G |
6: 142,204,698 (GRCm39) |
|
probably benign |
Het |
Smpd1 |
T |
C |
7: 105,205,108 (GRCm39) |
F329S |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,295,440 (GRCm39) |
I334M |
probably damaging |
Het |
Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
Ten1 |
G |
A |
11: 116,107,771 (GRCm39) |
|
probably null |
Het |
Tfap2d |
C |
G |
1: 19,174,718 (GRCm39) |
S57C |
possibly damaging |
Het |
Tnr |
A |
G |
1: 159,719,593 (GRCm39) |
M957V |
probably benign |
Het |
Trbv13-3 |
A |
G |
6: 41,107,079 (GRCm39) |
|
probably benign |
Het |
Trp53rkb |
C |
T |
2: 166,637,446 (GRCm39) |
A134V |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,607,345 (GRCm39) |
Y126C |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
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 |
|
R0681:Ogfod2
|
UTSW |
5 |
124,250,907 (GRCm39) |
missense |
probably null |
1.00 |
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 |
|
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'- CCTATTTCAGCTGTCAGGTCG -3'
(R):5'- ATCCTGGGAGCAGAACATGG -3'
Sequencing Primer
(F):5'- TCAGCTGTCAGGTCGCCTTG -3'
(R):5'- GTCAGCTGCGCAAACTTAG -3'
|
Posted On |
2015-04-29 |