Incidental Mutation 'R1244:Ogfod1'
| ID |
152094 |
| 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 |
039311-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1244 (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 G
at 94763999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 28
(D28G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034204]
[ENSMUST00000060632]
[ENSMUST00000093301]
[ENSMUST00000109556]
[ENSMUST00000212622]
[ENSMUST00000212981]
|
| AlphaFold |
Q3U0K8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034204
|
| SMART Domains |
Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX_2
|
35 |
222 |
9.9e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060632
AA Change: D14G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: D14G
| 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 benign
Transcript: ENSMUST00000093301
AA Change: D28G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: D28G
| 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 benign
Transcript: ENSMUST00000109556
AA Change: D28G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
P4Hc
|
61 |
238 |
4.87e-26 |
SMART |
|
Pfam:Ofd1_CTDD
|
261 |
528 |
7.2e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172674
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212981
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,262,918 (GRCm39) |
T1417I |
probably benign |
Het |
| Abca14 |
G |
A |
7: 119,815,561 (GRCm39) |
A270T |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,223,227 (GRCm39) |
T12K |
unknown |
Het |
| Ash2l |
T |
C |
8: 26,307,449 (GRCm39) |
S529G |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,180,654 (GRCm39) |
Y125C |
probably benign |
Het |
| Calca |
A |
G |
7: 114,232,962 (GRCm39) |
Y96H |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,946,417 (GRCm39) |
E131G |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,679,397 (GRCm39) |
D25G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,749,557 (GRCm39) |
D1728G |
probably damaging |
Het |
| Cyp39a1 |
A |
T |
17: 44,060,836 (GRCm39) |
K461N |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,478,703 (GRCm39) |
Q161L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,438,554 (GRCm39) |
T90A |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,868,367 (GRCm39) |
E39G |
possibly damaging |
Het |
| Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
| Hsd11b1 |
T |
G |
1: 192,906,068 (GRCm39) |
M175L |
probably benign |
Het |
| Htra1 |
G |
A |
7: 130,586,799 (GRCm39) |
V461I |
possibly damaging |
Het |
| Il10 |
A |
G |
1: 130,951,953 (GRCm39) |
D162G |
probably damaging |
Het |
| Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or5an10 |
A |
T |
19: 12,275,860 (GRCm39) |
I212N |
probably damaging |
Het |
| Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
| Ppp4c |
A |
G |
7: 126,385,452 (GRCm39) |
V119A |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,593,999 (GRCm39) |
I1616T |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,472,190 (GRCm39) |
N1390S |
probably benign |
Het |
| Sub1 |
A |
T |
15: 11,991,130 (GRCm39) |
V37E |
possibly damaging |
Het |
| Tbc1d17 |
A |
T |
7: 44,493,822 (GRCm39) |
V267E |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,847 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
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 |
|
|
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 |
|
R3025:Ogfod1
|
UTSW |
8 |
94,789,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CGCCATTAACAGTCGAGAGCAAGAG -3'
(R):5'- TGGAATGAACCGAGCAGCAGTC -3'
Sequencing Primer
(F):5'- GACCATTTGACCAATTGCTGG -3'
(R):5'- ATTACCATGGCTGAACGGTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation