Incidental Mutation 'R0708:Ogfod1'
| ID |
63856 |
| 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 |
038891-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0708 (G1)
|
| Quality Score |
85 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94763826-94794549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94765673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 79
(L79F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034204]
[ENSMUST00000060632]
[ENSMUST00000093301]
[ENSMUST00000109556]
[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 |
possibly damaging
Transcript: ENSMUST00000060632
AA Change: L64F
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: L64F
| Domain | Start | End | E-Value | Type |
|---|
|
P4Hc
|
46 |
223 |
4.87e-26 |
SMART |
|
Pfam:Ofd1_CTDD
|
246 |
513 |
1.4e-50 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093301
AA Change: L79F
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: L79F
| 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 |
possibly damaging
Transcript: ENSMUST00000109556
AA Change: L79F
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: L79F
| 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: ENSMUST00000212981
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brdt |
A |
T |
5: 107,506,766 (GRCm39) |
K450* |
probably null |
Het |
| Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,276,342 (GRCm39) |
Q750L |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,189,605 (GRCm39) |
S14R |
probably benign |
Het |
| Enox1 |
A |
G |
14: 77,830,352 (GRCm39) |
N319S |
probably benign |
Het |
| Frs2 |
G |
A |
10: 116,909,997 (GRCm39) |
T455M |
probably damaging |
Het |
| Glra3 |
C |
T |
8: 56,578,399 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
T |
C |
1: 75,419,218 (GRCm39) |
F375S |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,424,526 (GRCm39) |
|
probably null |
Het |
| Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
| Insc |
T |
A |
7: 114,444,381 (GRCm39) |
V456E |
probably damaging |
Het |
| Ints14 |
G |
A |
9: 64,891,266 (GRCm39) |
V416I |
probably benign |
Het |
| Klk1b11 |
T |
C |
7: 43,647,152 (GRCm39) |
F29L |
possibly damaging |
Het |
| Or8d2b |
T |
A |
9: 38,788,571 (GRCm39) |
V33E |
probably damaging |
Het |
| Orc3 |
A |
T |
4: 34,597,368 (GRCm39) |
I224N |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,614,616 (GRCm39) |
F111L |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,990,992 (GRCm39) |
D291G |
probably null |
Het |
| Prl8a8 |
A |
T |
13: 27,695,528 (GRCm39) |
M72K |
possibly damaging |
Het |
| Ptpn7 |
C |
A |
1: 135,062,285 (GRCm39) |
T77K |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,251 (GRCm39) |
S462P |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,866,755 (GRCm39) |
V245A |
probably benign |
Het |
| Sgcb |
A |
T |
5: 73,798,225 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
T |
A |
9: 64,855,172 (GRCm39) |
K578N |
unknown |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Tecr |
A |
T |
8: 84,299,738 (GRCm39) |
I101N |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,179,984 (GRCm39) |
F277L |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,586,152 (GRCm39) |
L343H |
probably benign |
Het |
| Thbs4 |
C |
A |
13: 92,909,694 (GRCm39) |
G368W |
probably damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,123 (GRCm39) |
S222G |
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 |
|
|
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 |
|
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'- GCGTCGTCCCTTCCACTCATTAAAG -3'
(R):5'- CTCCCTGATAACCGTCACAGCAATT -3'
Sequencing Primer
(F):5'- GACTACCAGAACTTCATGATGGTCTC -3'
(R):5'- attcccctgaagtcgatgtg -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation