Incidental Mutation 'R5349:Ogfod1'
| ID |
422769 |
| 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 |
042928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5349 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94763826-94794549 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 94781876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060632]
[ENSMUST00000093301]
[ENSMUST00000109556]
|
| AlphaFold |
Q3U0K8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060632
|
| SMART Domains |
Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
| 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
|
| SMART Domains |
Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
| 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: ENSMUST00000145717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211865
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,917,986 (GRCm39) |
E327G |
possibly damaging |
Het |
| Cd209d |
T |
G |
8: 3,928,320 (GRCm39) |
M22L |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,380,956 (GRCm39) |
V75A |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,462 (GRCm39) |
E642G |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,125 (GRCm39) |
V571A |
unknown |
Het |
| Dip2c |
C |
A |
13: 9,672,689 (GRCm39) |
H1032N |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,694 (GRCm39) |
D385V |
probably damaging |
Het |
| Fbxl3 |
T |
C |
14: 103,333,012 (GRCm39) |
|
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,263,529 (GRCm39) |
|
probably null |
Het |
| Gm8220 |
T |
C |
14: 44,525,634 (GRCm39) |
I101T |
probably benign |
Het |
| Grin2b |
A |
G |
6: 136,021,281 (GRCm39) |
C7R |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,384,409 (GRCm39) |
I516T |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,641 (GRCm39) |
D89G |
possibly damaging |
Het |
| Or4k2 |
G |
T |
14: 50,424,230 (GRCm39) |
S148* |
probably null |
Het |
| Pard3 |
G |
T |
8: 128,142,224 (GRCm39) |
D930Y |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,494,932 (GRCm39) |
C9Y |
probably damaging |
Het |
| Pilra |
T |
A |
5: 137,829,488 (GRCm39) |
D192V |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,301,605 (GRCm39) |
S176P |
probably benign |
Het |
| Slc4a2 |
T |
C |
5: 24,640,633 (GRCm39) |
V685A |
possibly damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,740,951 (GRCm39) |
F44L |
possibly damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,337 (GRCm39) |
F108L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,638,450 (GRCm39) |
I13943M |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,710,856 (GRCm39) |
D2577G |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,040,929 (GRCm39) |
F675I |
probably 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 |
|
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 |
|
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'- GGTTGACTCCAGGAAAATAAGAACC -3'
(R):5'- TGGGACAGCGAGTTCAATGG -3'
Sequencing Primer
(F):5'- CTAATCTGGCTCTCATCAGCAATAGG -3'
(R):5'- TTCAATGGGAAGGAGACACAGTTAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation