Incidental Mutation 'R4508:Ogfod2'
| ID |
331063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogfod2
|
| Ensembl Gene |
ENSMUSG00000023707 |
| Gene Name |
2-oxoglutarate and iron-dependent oxygenase domain containing 2 |
| Synonyms |
1300006G11Rik, 5730405M13Rik |
| MMRRC Submission |
041757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R4508 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124250384-124253544 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 124251317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 74
(Q74*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024470]
[ENSMUST00000031351]
[ENSMUST00000119269]
[ENSMUST00000122394]
[ENSMUST00000198770]
[ENSMUST00000196627]
[ENSMUST00000198505]
[ENSMUST00000196401]
[ENSMUST00000149835]
[ENSMUST00000145667]
|
| AlphaFold |
Q9CQ04 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024470
AA Change: Q75*
|
| SMART Domains |
Protein: ENSMUSP00000024470
Gene: ENSMUSG00000023707
AA Change: Q75*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
42 |
100 |
2e-6 |
BLAST |
|
low complexity region
|
102 |
112 |
N/A |
INTRINSIC |
|
P4Hc
|
136 |
307 |
7.91e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031351
|
| SMART Domains |
Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
7 |
227 |
2.7e-104 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119269
AA Change: Q75*
|
| SMART Domains |
Protein: ENSMUSP00000112701
Gene: ENSMUSG00000023707
AA Change: Q75*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
42 |
133 |
1e-22 |
BLAST |
|
Blast:P4Hc
|
136 |
175 |
1e-20 |
BLAST |
|
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122394
|
| SMART Domains |
Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
2 |
199 |
6.3e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131094
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198770
AA Change: Q44*
|
| SMART Domains |
Protein: ENSMUSP00000143318
Gene: ENSMUSG00000023707
AA Change: Q44*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:P4Hc
|
11 |
102 |
7e-24 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148365
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196627
AA Change: Q75*
|
| SMART Domains |
Protein: ENSMUSP00000143698
Gene: ENSMUSG00000023707
AA Change: Q75*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
42 |
133 |
1e-23 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199457
AA Change: Q74*
|
| Predicted Effect |
silent
Transcript: ENSMUST00000198505
|
| SMART Domains |
Protein: ENSMUSP00000142965
Gene: ENSMUSG00000023707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196401
|
| SMART Domains |
Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149835
|
| SMART Domains |
Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
32 |
N/A |
INTRINSIC |
|
SCOP:d1l9ha_
|
58 |
84 |
7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145667
|
| SMART Domains |
Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
19 |
227 |
3e-86 |
PFAM |
|
| Meta Mutation Damage Score |
0.9712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,380 (GRCm39) |
R540G |
probably benign |
Het |
| Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
| Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
| Cnnm2 |
G |
A |
19: 46,865,709 (GRCm39) |
D766N |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
| Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
| Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
| Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
| Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
| Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
| Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
| Kcnc1 |
C |
T |
7: 46,077,712 (GRCm39) |
P505S |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
| Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
| Lilra6 |
G |
T |
7: 3,915,028 (GRCm39) |
Y455* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
| Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,138 (GRCm39) |
V30E |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
| Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,744,456 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Scly |
G |
A |
1: 91,236,047 (GRCm39) |
V100I |
possibly damaging |
Het |
| Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
| Sp1 |
A |
C |
15: 102,317,747 (GRCm39) |
Q422P |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
possibly damaging |
Het |
|
| Other mutations in Ogfod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02305:Ogfod2
|
APN |
5 |
124,250,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03304:Ogfod2
|
APN |
5 |
124,250,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0018:Ogfod2
|
UTSW |
5 |
124,252,588 (GRCm39) |
unclassified |
probably benign |
|
|
R0681:Ogfod2
|
UTSW |
5 |
124,250,907 (GRCm39) |
missense |
probably null |
1.00 |
|
R0751:Ogfod2
|
UTSW |
5 |
124,251,539 (GRCm39) |
unclassified |
probably benign |
|
|
R1744:Ogfod2
|
UTSW |
5 |
124,252,219 (GRCm39) |
splice site |
probably null |
|
|
R1800:Ogfod2
|
UTSW |
5 |
124,253,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Ogfod2
|
UTSW |
5 |
124,250,843 (GRCm39) |
splice site |
probably null |
|
|
R3977:Ogfod2
|
UTSW |
5 |
124,251,272 (GRCm39) |
splice site |
probably null |
|
|
R4346:Ogfod2
|
UTSW |
5 |
124,251,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4537:Ogfod2
|
UTSW |
5 |
124,252,591 (GRCm39) |
unclassified |
probably benign |
|
|
R5795:Ogfod2
|
UTSW |
5 |
124,252,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Ogfod2
|
UTSW |
5 |
124,252,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7101:Ogfod2
|
UTSW |
5 |
124,252,558 (GRCm39) |
missense |
unknown |
|
|
R8001:Ogfod2
|
UTSW |
5 |
124,252,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Ogfod2
|
UTSW |
5 |
124,251,538 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9080:Ogfod2
|
UTSW |
5 |
124,253,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9258:Ogfod2
|
UTSW |
5 |
124,250,505 (GRCm39) |
missense |
probably benign |
|
|
R9619:Ogfod2
|
UTSW |
5 |
124,252,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9675:Ogfod2
|
UTSW |
5 |
124,252,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTATAGGGAGACTTGCCCTC -3'
(R):5'- CCTGGGGACGTACTATATTCAGC -3'
Sequencing Primer
(F):5'- AGACTTGCCCTCCAGCCTAG -3'
(R):5'- GGACGTACTATATTCAGCTGCAGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation