Incidental Mutation 'R5495:Ogfod1'
| ID |
432292 |
| 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 |
043056-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5495 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94763826-94794549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94790906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 526
(Q526K)
|
| 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 benign
Transcript: ENSMUST00000060632
AA Change: Q511K
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: Q511K
| 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: Q483K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: Q483K
| 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: Q526K
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: Q526K
| 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: ENSMUST00000170208
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,335,594 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
T |
G |
3: 121,808,578 (GRCm39) |
M844R |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,498,741 (GRCm39) |
D184A |
probably benign |
Het |
| Bcl11a |
T |
A |
11: 24,115,042 (GRCm39) |
V795E |
possibly damaging |
Het |
| Casp12 |
T |
A |
9: 5,353,797 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ccdc59 |
A |
G |
10: 105,681,239 (GRCm39) |
K164E |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,062,431 (GRCm39) |
G30S |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,854,594 (GRCm39) |
D632G |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,687,258 (GRCm39) |
K56E |
possibly damaging |
Het |
| Egflam |
T |
A |
15: 7,280,722 (GRCm39) |
R434S |
probably damaging |
Het |
| Fancl |
C |
G |
11: 26,347,801 (GRCm39) |
A51G |
probably damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,493,638 (GRCm39) |
Y185C |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,197,673 (GRCm39) |
|
probably null |
Het |
| Galnt15 |
A |
G |
14: 31,751,774 (GRCm39) |
S109G |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,615,694 (GRCm39) |
I163T |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,391,230 (GRCm39) |
V80A |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,554,687 (GRCm39) |
M56T |
possibly damaging |
Het |
| Larp1b |
G |
T |
3: 40,990,257 (GRCm39) |
R135I |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,495 (GRCm39) |
A71T |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,551,851 (GRCm39) |
L78* |
probably null |
Het |
| Lrat |
C |
A |
3: 82,804,289 (GRCm39) |
M229I |
probably benign |
Het |
| Mug2 |
A |
T |
6: 122,056,609 (GRCm39) |
M1185L |
probably damaging |
Het |
| Naprt |
T |
C |
15: 75,765,696 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,095,079 (GRCm39) |
I1107V |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,387 (GRCm39) |
Y22C |
probably damaging |
Het |
| Or2d4 |
C |
A |
7: 106,543,699 (GRCm39) |
G170* |
probably null |
Het |
| Or3a10 |
G |
A |
11: 73,935,611 (GRCm39) |
T163I |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,276,401 (GRCm39) |
T294A |
probably benign |
Het |
| Or8g36 |
T |
C |
9: 39,422,441 (GRCm39) |
T192A |
probably benign |
Het |
| Parp10 |
T |
G |
15: 76,127,366 (GRCm39) |
I24L |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,079 (GRCm39) |
T57A |
probably benign |
Het |
| Prdm8 |
A |
G |
5: 98,333,165 (GRCm39) |
E244G |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,496,654 (GRCm39) |
S3P |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,235,117 (GRCm39) |
T18S |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,941,004 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
G |
T |
14: 75,279,777 (GRCm39) |
V387F |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,997,602 (GRCm39) |
L38M |
possibly damaging |
Het |
| Serpinb12 |
T |
C |
1: 106,884,151 (GRCm39) |
L299P |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
T |
10: 23,837,181 (GRCm39) |
I264F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,523,570 (GRCm39) |
H124Q |
probably damaging |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,746 (GRCm39) |
Q184L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,774,462 (GRCm39) |
F168L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,468,670 (GRCm39) |
L267P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,772,354 (GRCm39) |
S1621G |
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 |
|
R5349:Ogfod1
|
UTSW |
8 |
94,781,876 (GRCm39) |
splice site |
probably benign |
|
|
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'- ACCACCTGCTCTGTGATGAC -3'
(R):5'- ATAGCTCTAGCATGAGGTCTAGATG -3'
Sequencing Primer
(F):5'- TCTGTGATGACTCCCCCGAG -3'
(R):5'- TGTAAGCCACACTGACCTTGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation