Incidental Mutation 'R3025:Ogfod1'
| ID |
265800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogfod1
|
| Ensembl Gene |
ENSMUSG00000033009 |
| Gene Name |
2-oxoglutarate and iron-dependent oxygenase domain containing 1 |
| Synonyms |
4930415J21Rik |
| MMRRC Submission |
040541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94763826-94794549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94789680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 460
(E460D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034206]
[ENSMUST00000060632]
[ENSMUST00000093301]
[ENSMUST00000109556]
|
| AlphaFold |
Q3U0K8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034206
|
| SMART Domains |
Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BBS2_N
|
20 |
161 |
1.4e-62 |
PFAM |
|
Pfam:BBS2_Mid
|
162 |
272 |
6.9e-50 |
PFAM |
|
Pfam:BBS2_C
|
276 |
715 |
2.6e-193 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060632
AA Change: E445D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: E445D
| Domain | Start | End | E-Value | Type |
|---|
|
P4Hc
|
46 |
223 |
4.87e-26 |
SMART |
|
Pfam:Ofd1_CTDD
|
246 |
513 |
1.4e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093301
AA Change: E417D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: E417D
| Domain | Start | End | E-Value | Type |
|---|
|
P4Hc
|
61 |
228 |
2.6e-12 |
SMART |
|
low complexity region
|
328 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109556
AA Change: E460D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: E460D
| Domain | Start | End | E-Value | Type |
|---|
|
P4Hc
|
61 |
238 |
4.87e-26 |
SMART |
|
Pfam:Ofd1_CTDD
|
261 |
528 |
7.2e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,864,919 (GRCm39) |
|
probably null |
Het |
| Akap6 |
A |
G |
12: 53,186,926 (GRCm39) |
T1447A |
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,721,659 (GRCm39) |
R250C |
probably damaging |
Het |
| Cacna1a |
T |
A |
8: 85,306,854 (GRCm39) |
|
probably null |
Het |
| Chd6 |
GATCAT |
GAT |
2: 160,808,472 (GRCm39) |
|
probably benign |
Het |
| Cptp |
T |
C |
4: 155,951,678 (GRCm39) |
E5G |
possibly damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,501,922 (GRCm39) |
V303F |
probably benign |
Het |
| Gm10842 |
T |
C |
11: 105,037,902 (GRCm39) |
S62P |
unknown |
Het |
| Gm17509 |
T |
C |
13: 117,357,112 (GRCm39) |
|
probably benign |
Het |
| Homer1 |
C |
T |
13: 93,538,582 (GRCm39) |
Q142* |
probably null |
Het |
| Kcnb2 |
C |
A |
1: 15,781,059 (GRCm39) |
Q644K |
possibly damaging |
Het |
| Map3k19 |
T |
C |
1: 127,766,290 (GRCm39) |
|
probably null |
Het |
| Msh4 |
T |
A |
3: 153,569,128 (GRCm39) |
H621L |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,542 (GRCm39) |
F59Y |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,314,083 (GRCm39) |
M1K |
probably null |
Het |
| Rp1 |
G |
A |
1: 4,422,898 (GRCm39) |
R61W |
probably damaging |
Het |
| Scaf4 |
A |
T |
16: 90,048,826 (GRCm39) |
H329Q |
unknown |
Het |
| Sec61a1 |
A |
T |
6: 88,489,202 (GRCm39) |
D166E |
probably damaging |
Het |
| Tars2 |
C |
T |
3: 95,654,952 (GRCm39) |
R63H |
possibly damaging |
Het |
| Vmn1r57 |
A |
T |
7: 5,223,714 (GRCm39) |
K80* |
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,147 (GRCm39) |
W255R |
probably benign |
Het |
| Wdr49 |
C |
G |
3: 75,240,663 (GRCm39) |
C402S |
possibly damaging |
Het |
|
| Other mutations in Ogfod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01074:Ogfod1
|
APN |
8 |
94,789,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01296:Ogfod1
|
APN |
8 |
94,782,299 (GRCm39) |
splice site |
probably benign |
|
|
IGL01369:Ogfod1
|
APN |
8 |
94,789,719 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02113:Ogfod1
|
APN |
8 |
94,790,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02228:Ogfod1
|
APN |
8 |
94,789,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03057:Ogfod1
|
APN |
8 |
94,782,766 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03071:Ogfod1
|
APN |
8 |
94,784,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Ogfod1
|
UTSW |
8 |
94,789,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Ogfod1
|
UTSW |
8 |
94,790,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0518:Ogfod1
|
UTSW |
8 |
94,781,876 (GRCm39) |
splice site |
probably null |
|
|
R0605:Ogfod1
|
UTSW |
8 |
94,773,895 (GRCm39) |
splice site |
probably benign |
|
|
R0708:Ogfod1
|
UTSW |
8 |
94,765,673 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0763:Ogfod1
|
UTSW |
8 |
94,782,264 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1101:Ogfod1
|
UTSW |
8 |
94,790,932 (GRCm39) |
missense |
probably benign |
|
|
R1244:Ogfod1
|
UTSW |
8 |
94,763,999 (GRCm39) |
missense |
probably benign |
|
|
R1332:Ogfod1
|
UTSW |
8 |
94,784,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1336:Ogfod1
|
UTSW |
8 |
94,784,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2301:Ogfod1
|
UTSW |
8 |
94,763,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Ogfod1
|
UTSW |
8 |
94,784,380 (GRCm39) |
nonsense |
probably null |
|
|
R4612:Ogfod1
|
UTSW |
8 |
94,763,975 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5349:Ogfod1
|
UTSW |
8 |
94,781,876 (GRCm39) |
splice site |
probably benign |
|
|
R5495:Ogfod1
|
UTSW |
8 |
94,790,906 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5690:Ogfod1
|
UTSW |
8 |
94,784,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6355:Ogfod1
|
UTSW |
8 |
94,789,610 (GRCm39) |
missense |
probably benign |
|
|
R7282:Ogfod1
|
UTSW |
8 |
94,764,067 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7396:Ogfod1
|
UTSW |
8 |
94,765,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7651:Ogfod1
|
UTSW |
8 |
94,763,981 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8868:Ogfod1
|
UTSW |
8 |
94,773,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Ogfod1
|
UTSW |
8 |
94,764,032 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Ogfod1
|
UTSW |
8 |
94,763,937 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTGACACAAGACCTTATG -3'
(R):5'- AGGAATTAACCTTTCCATACCCAG -3'
Sequencing Primer
(F):5'- ACCTTATGGTGGGTCCTTGTATTC -3'
(R):5'- CCCAGATATAAATTCTGTTTGGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation