Incidental Mutation 'R5795:Ogfod2'
| ID |
447167 |
| 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 |
043386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5795 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124250384-124253544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124252824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 278
(G278D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024470]
[ENSMUST00000031351]
[ENSMUST00000086123]
[ENSMUST00000119269]
[ENSMUST00000122394]
[ENSMUST00000198505]
[ENSMUST00000196627]
[ENSMUST00000196401]
[ENSMUST00000161938]
[ENSMUST00000198770]
[ENSMUST00000162812]
[ENSMUST00000149835]
[ENSMUST00000145667]
[ENSMUST00000161273]
|
| AlphaFold |
Q9CQ04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024470
AA Change: G278D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024470
Gene: ENSMUSG00000023707
AA Change: G278D
| 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 benign
Transcript: ENSMUST00000086123
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
6.1e-132 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
515 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
548 |
570 |
6e-7 |
BLAST |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
895 |
1.66e-98 |
SMART |
|
LNS2
|
1040 |
1171 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
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: ENSMUST00000136955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143062
|
| Predicted Effect |
probably benign
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: 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 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: ENSMUST00000161938
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
251 |
7.5e-116 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
422 |
670 |
2e-65 |
BLAST |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
949 |
8.37e-104 |
SMART |
|
LNS2
|
1094 |
1225 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199457
|
| 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 benign
Transcript: ENSMUST00000162812
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
6.1e-132 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
515 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
548 |
570 |
6e-7 |
BLAST |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
895 |
1.66e-98 |
SMART |
|
LNS2
|
1040 |
1171 |
3.22e-55 |
SMART |
|
| 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 |
|
| 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: ENSMUST00000161273
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
3.2e-129 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
422 |
670 |
2e-65 |
BLAST |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
945 |
7.5e-100 |
SMART |
|
LNS2
|
1090 |
1221 |
3.1e-59 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,186,688 (GRCm39) |
V261A |
probably benign |
Het |
| Adipor1 |
C |
A |
1: 134,352,641 (GRCm39) |
N137K |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,989,746 (GRCm39) |
K3677* |
probably null |
Het |
| Ankrd24 |
C |
A |
10: 81,480,937 (GRCm39) |
|
probably benign |
Het |
| Appl1 |
G |
T |
14: 26,664,773 (GRCm39) |
P420Q |
probably benign |
Het |
| Bmp8b |
C |
A |
4: 123,015,761 (GRCm39) |
F249L |
possibly damaging |
Het |
| Brat1 |
G |
T |
5: 140,698,827 (GRCm39) |
A275S |
probably benign |
Het |
| C5ar1 |
T |
C |
7: 15,982,319 (GRCm39) |
K234E |
possibly damaging |
Het |
| Cblif |
A |
G |
19: 11,737,740 (GRCm39) |
T384A |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,883,367 (GRCm39) |
|
probably null |
Het |
| Chmp5 |
T |
G |
4: 40,950,562 (GRCm39) |
|
probably null |
Het |
| Chrna3 |
T |
A |
9: 54,922,552 (GRCm39) |
T419S |
probably benign |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Csf3 |
G |
T |
11: 98,592,853 (GRCm39) |
C72F |
probably damaging |
Het |
| Dbndd1 |
A |
G |
8: 124,236,619 (GRCm39) |
I83T |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,309 (GRCm39) |
K287E |
probably damaging |
Het |
| F5 |
C |
T |
1: 163,979,578 (GRCm39) |
T16I |
probably benign |
Het |
| Hephl1 |
C |
T |
9: 14,981,056 (GRCm39) |
G792E |
probably damaging |
Het |
| Hmmr |
T |
A |
11: 40,612,733 (GRCm39) |
D158V |
probably damaging |
Het |
| Hsd11b1 |
A |
G |
1: 192,922,940 (GRCm39) |
S76P |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
| Irf7 |
G |
A |
7: 140,845,029 (GRCm39) |
P118L |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,103,722 (GRCm39) |
N1981S |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,304,816 (GRCm39) |
D224G |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,498,616 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Minpp1 |
G |
A |
19: 32,491,557 (GRCm39) |
V412M |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,425,478 (GRCm39) |
V4708M |
possibly damaging |
Het |
| Mycl |
G |
A |
4: 122,890,415 (GRCm39) |
E34K |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,135,241 (GRCm39) |
D179V |
probably damaging |
Het |
| Or2h1 |
A |
G |
17: 37,404,661 (GRCm39) |
L35P |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,188 (GRCm39) |
F162L |
possibly damaging |
Het |
| Paf1 |
T |
G |
7: 28,096,043 (GRCm39) |
M250R |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,008,420 (GRCm39) |
T48A |
possibly damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,192,862 (GRCm39) |
V1096A |
possibly damaging |
Het |
| Polr3b |
T |
C |
10: 84,512,875 (GRCm39) |
S586P |
probably damaging |
Het |
| Polr3b |
A |
T |
10: 84,464,116 (GRCm39) |
E25D |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,348,475 (GRCm39) |
M274T |
possibly damaging |
Het |
| Slc31a2 |
T |
C |
4: 62,215,289 (GRCm39) |
V112A |
probably damaging |
Het |
| Spire1 |
A |
T |
18: 67,628,265 (GRCm39) |
S412T |
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,637,926 (GRCm39) |
T876A |
possibly damaging |
Het |
| Tango6 |
T |
A |
8: 107,444,709 (GRCm39) |
L538H |
probably damaging |
Het |
| Tas2r125 |
G |
A |
6: 132,886,621 (GRCm39) |
G3D |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,091,158 (GRCm39) |
M125K |
possibly damaging |
Het |
| Traf5 |
T |
C |
1: 191,731,807 (GRCm39) |
S345G |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,175,594 (GRCm39) |
I1231F |
probably benign |
Het |
| Vmn2r104 |
G |
T |
17: 20,250,372 (GRCm39) |
T633N |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,250,544 (GRCm39) |
S576P |
possibly damaging |
Het |
| Vmn2r105 |
A |
T |
17: 20,448,998 (GRCm39) |
C60S |
probably benign |
Het |
| Zfp316 |
A |
T |
5: 143,248,594 (GRCm39) |
D217E |
unknown |
Het |
| Zfp456 |
A |
T |
13: 67,515,039 (GRCm39) |
D222E |
probably benign |
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 |
|
|
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 |
|
|
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'- TCTGGGCAAGGACTTCACAG -3'
(R):5'- TCAGCATCAACACCTCTGG -3'
Sequencing Primer
(F):5'- AGGGGGTGCCCTGTATTTTG -3'
(R):5'- TCAACACCTCTGGGGGAGAAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation