Incidental Mutation 'R1332:Ogfod1'
ID |
156742 |
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 |
039397-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1332 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
94763826-94794549 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94784727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 344
(C344R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060632]
[ENSMUST00000093301]
[ENSMUST00000109556]
|
AlphaFold |
Q3U0K8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060632
AA Change: C329R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051430 Gene: ENSMUSG00000033009 AA Change: C329R
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 damaging
Transcript: ENSMUST00000093301
AA Change: C301R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090991 Gene: ENSMUSG00000033009 AA Change: C301R
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 damaging
Transcript: ENSMUST00000109556
AA Change: C344R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105183 Gene: ENSMUSG00000033009 AA Change: C344R
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 |
0.7089 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 93.0%
|
Validation Efficiency |
100% (35/35) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
T |
TNNNNNNNNNNNNNNNNNN |
11: 43,478,256 (GRCm39) |
|
probably benign |
Het |
Abhd14b |
A |
T |
9: 106,329,195 (GRCm39) |
I42F |
probably damaging |
Het |
Apbb1 |
A |
T |
7: 105,214,750 (GRCm39) |
I498N |
possibly damaging |
Het |
Asah2 |
A |
G |
19: 32,022,341 (GRCm39) |
I231T |
probably damaging |
Het |
Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
Caskin2 |
C |
T |
11: 115,694,171 (GRCm39) |
|
probably benign |
Het |
Ccdc141 |
T |
C |
2: 76,844,784 (GRCm39) |
T1428A |
probably damaging |
Het |
Cd22 |
A |
C |
7: 30,569,912 (GRCm39) |
W477G |
possibly damaging |
Het |
Cox16 |
T |
C |
12: 81,519,064 (GRCm39) |
D89G |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,934,041 (GRCm39) |
I3511T |
possibly damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,276,901 (GRCm39) |
Y333N |
probably damaging |
Het |
Eya2 |
T |
C |
2: 165,529,528 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,855,167 (GRCm39) |
D1892G |
probably benign |
Het |
Hlf |
G |
T |
11: 90,231,679 (GRCm39) |
S265* |
probably null |
Het |
Immt |
T |
C |
6: 71,823,256 (GRCm39) |
|
probably benign |
Het |
Lair1 |
T |
C |
7: 4,013,595 (GRCm39) |
E36G |
possibly damaging |
Het |
Lrfn5 |
T |
C |
12: 61,904,314 (GRCm39) |
|
probably benign |
Het |
Nos1ap |
T |
C |
1: 170,177,001 (GRCm39) |
N134S |
probably damaging |
Het |
Or6c212 |
A |
G |
10: 129,559,116 (GRCm39) |
L99S |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
Pmfbp1 |
T |
G |
8: 110,256,898 (GRCm39) |
I534S |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,274,315 (GRCm39) |
D1329G |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 157,003,391 (GRCm39) |
T423A |
probably benign |
Het |
Rif1 |
T |
A |
2: 51,968,326 (GRCm39) |
W170R |
probably benign |
Het |
Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Tlr3 |
A |
C |
8: 45,851,774 (GRCm39) |
N374K |
probably damaging |
Het |
Uck1 |
T |
C |
2: 32,149,666 (GRCm39) |
D71G |
probably damaging |
Het |
Vcan |
C |
T |
13: 89,841,174 (GRCm39) |
E497K |
probably damaging |
Het |
Vmn2r86 |
G |
A |
10: 130,282,739 (GRCm39) |
L626F |
probably damaging |
Het |
Vmn2r89 |
A |
G |
14: 51,692,559 (GRCm39) |
T121A |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,622,706 (GRCm39) |
S828P |
possibly damaging |
Het |
Zfp334 |
A |
T |
2: 165,222,776 (GRCm39) |
H422Q |
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 |
|
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'- TGCTCATCCCCAGTAGCACACTTG -3'
(R):5'- TAGTCCCTTCTTCAGTGCCAGCAG -3'
Sequencing Primer
(F):5'- GTAGCACACTTGCCTTAACG -3'
(R):5'- AGCAGCACTGGCTGTCTC -3'
|
Posted On |
2014-02-11 |