Incidental Mutation 'R3710:Ogfod1'
| ID |
259551 |
| 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 |
040703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3710 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94763826-94794549 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 94784380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 313
(K313*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060632]
[ENSMUST00000093301]
[ENSMUST00000109556]
|
| AlphaFold |
Q3U0K8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060632
AA Change: K298*
|
| SMART Domains |
Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: K298*
| 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 null
Transcript: ENSMUST00000093301
AA Change: K270*
|
| SMART Domains |
Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: K270*
| 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 null
Transcript: ENSMUST00000109556
AA Change: K313*
|
| SMART Domains |
Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: K313*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (55/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
| Agbl2 |
G |
A |
2: 90,636,152 (GRCm39) |
D563N |
probably benign |
Het |
| Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
| Ank1 |
A |
G |
8: 23,577,095 (GRCm39) |
D200G |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,470,808 (GRCm39) |
|
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
C |
A |
19: 57,645,546 (GRCm39) |
H469N |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bud23 |
A |
C |
5: 135,085,204 (GRCm39) |
S41A |
possibly damaging |
Het |
| Car12 |
G |
T |
9: 66,658,260 (GRCm39) |
A21S |
probably damaging |
Het |
| Cav3 |
T |
A |
6: 112,436,774 (GRCm39) |
M1K |
probably null |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
| Col2a1 |
A |
G |
15: 97,888,788 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Csn3 |
C |
A |
5: 88,077,882 (GRCm39) |
N129K |
possibly damaging |
Het |
| Diaph1 |
C |
A |
18: 37,978,537 (GRCm39) |
G1209W |
probably damaging |
Het |
| Dsg2 |
A |
G |
18: 20,735,174 (GRCm39) |
T1051A |
probably damaging |
Het |
| Gm1965 |
A |
T |
6: 89,122,407 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Gsto1 |
T |
C |
19: 47,847,971 (GRCm39) |
|
probably null |
Het |
| Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
| Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
| Marchf6 |
A |
T |
15: 31,509,972 (GRCm39) |
|
probably benign |
Het |
| Mtmr10 |
C |
A |
7: 63,976,433 (GRCm39) |
A410D |
possibly damaging |
Het |
| Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,173,635 (GRCm39) |
S420P |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,068,627 (GRCm39) |
V176E |
probably damaging |
Het |
| Or5an1 |
T |
G |
19: 12,260,450 (GRCm39) |
F13V |
probably damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
| Otof |
A |
T |
5: 30,542,610 (GRCm39) |
M661K |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
| Rimbp2 |
G |
A |
5: 128,866,795 (GRCm39) |
T508I |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,037,991 (GRCm39) |
C393* |
probably null |
Het |
| Rps17 |
T |
A |
7: 80,994,672 (GRCm39) |
T30S |
probably benign |
Het |
| Rps3 |
T |
C |
7: 99,128,626 (GRCm39) |
K197R |
probably benign |
Het |
| Samd11 |
G |
A |
4: 156,334,952 (GRCm39) |
L109F |
probably damaging |
Het |
| Smarca2 |
T |
G |
19: 26,646,290 (GRCm39) |
|
probably benign |
Het |
| Sprr2g |
C |
A |
3: 92,282,036 (GRCm39) |
P30Q |
unknown |
Het |
| Spz1 |
G |
A |
13: 92,711,631 (GRCm39) |
Q282* |
probably null |
Het |
| Syne3 |
A |
G |
12: 104,909,697 (GRCm39) |
L713P |
possibly damaging |
Het |
| Tgm1 |
C |
A |
14: 55,950,052 (GRCm39) |
|
probably benign |
Het |
| Tomm22 |
T |
C |
15: 79,555,419 (GRCm39) |
F55L |
probably damaging |
Het |
| Tph2 |
T |
A |
10: 115,009,963 (GRCm39) |
Y199F |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,932 (GRCm39) |
F757L |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,055,601 (GRCm39) |
T846S |
probably benign |
Het |
| Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
| Zc3hav1 |
A |
C |
6: 38,309,097 (GRCm39) |
M575R |
probably benign |
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 |
|
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'- GGTGCCACAGAGATCTTGTG -3'
(R):5'- GCCCTTCTCCCTAAATGATGGC -3'
Sequencing Primer
(F):5'- TGCCACAGAGATCTTGTGGGAAAG -3'
(R):5'- ATACTAGTGAGTGTCTGCTAGGACC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation