Incidental Mutation 'R5690:Ogfod1'
ID |
443630 |
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 |
043323-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5690 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
94763826-94794549 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 94784769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 343
(S343T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060632]
[ENSMUST00000093301]
[ENSMUST00000109556]
|
AlphaFold |
Q3U0K8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060632
AA Change: S343T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000051430 Gene: ENSMUSG00000033009 AA Change: S343T
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: S315T
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000090991 Gene: ENSMUSG00000033009 AA Change: S315T
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: S358T
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105183 Gene: ENSMUSG00000033009 AA Change: S358T
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
A |
G |
10: 70,759,144 (GRCm39) |
|
probably benign |
Het |
Acadl |
T |
C |
1: 66,892,445 (GRCm39) |
Y126C |
probably damaging |
Het |
Ak6 |
A |
G |
13: 100,792,129 (GRCm39) |
|
probably null |
Het |
Ap1s1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
5: 137,066,233 (GRCm39) |
|
probably benign |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Atp6v1e1 |
A |
T |
6: 120,785,317 (GRCm39) |
|
probably null |
Het |
Axin1 |
A |
G |
17: 26,413,911 (GRCm39) |
Y792C |
probably damaging |
Het |
C1s2 |
T |
C |
6: 124,607,996 (GRCm39) |
N233S |
probably benign |
Het |
Ccer2 |
C |
A |
7: 28,455,629 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,218,269 (GRCm39) |
S1481P |
probably benign |
Het |
Cspg4 |
A |
T |
9: 56,806,019 (GRCm39) |
T2277S |
probably benign |
Het |
Ctsl |
T |
A |
13: 64,513,022 (GRCm39) |
N300I |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,382,370 (GRCm39) |
I1247V |
probably benign |
Het |
Dsg3 |
A |
T |
18: 20,655,108 (GRCm39) |
Q135L |
probably benign |
Het |
Efcab14 |
G |
A |
4: 115,617,244 (GRCm39) |
V318M |
possibly damaging |
Het |
Etl4 |
G |
A |
2: 20,810,647 (GRCm39) |
S910N |
probably benign |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Frmd4b |
T |
C |
6: 97,330,164 (GRCm39) |
E133G |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,807,453 (GRCm39) |
F2514S |
probably benign |
Het |
Il18rap |
A |
G |
1: 40,576,272 (GRCm39) |
D261G |
possibly damaging |
Het |
Klk1b16 |
A |
G |
7: 43,790,318 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
C |
2: 40,640,906 (GRCm39) |
|
probably null |
Het |
Mrpl45 |
C |
A |
11: 97,212,412 (GRCm39) |
|
probably benign |
Het |
Myh13 |
A |
G |
11: 67,220,101 (GRCm39) |
E150G |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,386,285 (GRCm39) |
V737D |
probably damaging |
Het |
Ncr1 |
T |
C |
7: 4,341,296 (GRCm39) |
Y59H |
probably damaging |
Het |
Nt5c1a |
T |
A |
4: 123,109,732 (GRCm39) |
V277E |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pnpla1 |
A |
T |
17: 29,097,346 (GRCm39) |
I171F |
probably damaging |
Het |
Rab5if |
G |
A |
2: 156,707,234 (GRCm39) |
V58I |
probably benign |
Het |
Rdh8 |
A |
G |
9: 20,736,785 (GRCm39) |
N259S |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,229,735 (GRCm39) |
L927S |
possibly damaging |
Het |
Slc22a12 |
A |
G |
19: 6,586,878 (GRCm39) |
M496T |
probably benign |
Het |
Slc8b1 |
G |
A |
5: 120,651,270 (GRCm39) |
W10* |
probably null |
Het |
Smarcc2 |
G |
A |
10: 128,320,276 (GRCm39) |
G887S |
probably damaging |
Het |
Smc1b |
A |
G |
15: 84,996,974 (GRCm39) |
S549P |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,085,802 (GRCm39) |
M1181V |
probably benign |
Het |
Tbx15 |
T |
C |
3: 99,216,166 (GRCm39) |
S76P |
probably damaging |
Het |
Tbx2 |
A |
T |
11: 85,727,879 (GRCm39) |
I271F |
probably damaging |
Het |
Thap4 |
A |
G |
1: 93,644,352 (GRCm39) |
|
probably null |
Het |
Tmc2 |
A |
G |
2: 130,074,306 (GRCm39) |
Y333C |
probably damaging |
Het |
Trcg1 |
C |
T |
9: 57,149,094 (GRCm39) |
P222L |
probably benign |
Het |
Tubb3 |
T |
C |
8: 124,148,045 (GRCm39) |
V326A |
probably benign |
Het |
Unc80 |
A |
C |
1: 66,679,731 (GRCm39) |
I2101L |
probably benign |
Het |
Vmn1r19 |
T |
C |
6: 57,381,780 (GRCm39) |
L111S |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
Xpo4 |
T |
C |
14: 57,828,446 (GRCm39) |
I805V |
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 |
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 |
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'- GGTCCTAGCAGACACTCACTAG -3'
(R):5'- CTCTTGACTGTGACTGCCAG -3'
Sequencing Primer
(F):5'- CCATCATTTAGGGAGAAGGGCTC -3'
(R):5'- AGCGGCCACCTGATTATTC -3'
|
Posted On |
2016-11-09 |