Incidental Mutation 'R8001:Ogfod2'
| ID |
616356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogfod2
|
| Ensembl Gene |
ENSMUSG00000023707 |
| Gene Name |
2-oxoglutarate and iron-dependent oxygenase domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124112297-124115483 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 124114883 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 319
(C319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024470]
[ENSMUST00000031351]
[ENSMUST00000086123]
[ENSMUST00000119269]
[ENSMUST00000122394]
[ENSMUST00000145667]
[ENSMUST00000149835]
[ENSMUST00000161273]
[ENSMUST00000161938]
[ENSMUST00000162812]
[ENSMUST00000196401]
[ENSMUST00000196627]
[ENSMUST00000198505]
[ENSMUST00000198770]
|
| AlphaFold |
Q9CQ04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024470
AA Change: C319G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024470
Gene: ENSMUSG00000023707
AA Change: C319G
| 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 benign
Transcript: ENSMUST00000086123
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
6.1e-132 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
515 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
548 |
570 |
6e-7 |
BLAST |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
895 |
1.66e-98 |
SMART |
|
LNS2
|
1040 |
1171 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119269
|
| SMART Domains |
Protein: ENSMUSP00000112701
Gene: ENSMUSG00000023707
| 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 |
probably benign
Transcript: ENSMUST00000145667
|
| SMART Domains |
Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
19 |
227 |
3e-86 |
PFAM |
|
| 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: ENSMUST00000161273
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
3.2e-129 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
422 |
670 |
2e-65 |
BLAST |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
945 |
7.5e-100 |
SMART |
|
LNS2
|
1090 |
1221 |
3.1e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161938
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
251 |
7.5e-116 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
422 |
670 |
2e-65 |
BLAST |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
949 |
8.37e-104 |
SMART |
|
LNS2
|
1094 |
1225 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162812
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
6.1e-132 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
515 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
548 |
570 |
6e-7 |
BLAST |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
895 |
1.66e-98 |
SMART |
|
LNS2
|
1040 |
1171 |
3.22e-55 |
SMART |
|
| 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: ENSMUST00000196627
|
| SMART Domains |
Protein: ENSMUSP00000143698
Gene: ENSMUSG00000023707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
42 |
133 |
1e-23 |
BLAST |
|
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000198770
|
| SMART Domains |
Protein: ENSMUSP00000143318
Gene: ENSMUSG00000023707
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:P4Hc
|
11 |
102 |
7e-24 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199457
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310007B03Rik |
A |
G |
1: 93,154,599 |
L266P |
probably damaging |
Het |
| Acr |
A |
G |
15: 89,573,962 |
Y282C |
probably damaging |
Het |
| Alkbh4 |
A |
G |
5: 136,140,269 |
R136G |
probably damaging |
Het |
| Bptf |
C |
A |
11: 107,047,340 |
E2* |
probably null |
Het |
| Cse1l |
T |
A |
2: 166,939,913 |
F659Y |
probably damaging |
Het |
| Ctrc |
A |
T |
4: 141,840,360 |
L144Q |
probably damaging |
Het |
| Elmo1 |
A |
G |
13: 20,286,732 |
I265V |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,713,916 |
S19P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,664,878 |
C2893* |
probably null |
Het |
| Hnrnpll |
G |
A |
17: 80,038,723 |
Q370* |
probably null |
Het |
| Itpkb |
T |
C |
1: 180,332,494 |
S62P |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,792,076 |
C501S |
probably benign |
Het |
| Nrxn1 |
C |
T |
17: 91,088,536 |
R64H |
possibly damaging |
Het |
| Olfr1474 |
A |
G |
19: 13,471,422 |
I109V |
probably benign |
Het |
| Olfr201 |
T |
C |
16: 59,269,109 |
N186S |
probably benign |
Het |
| Olfr555 |
A |
T |
7: 102,659,034 |
D71V |
probably damaging |
Het |
| Olfr827 |
A |
G |
10: 130,210,860 |
V90A |
probably benign |
Het |
| Pabpc6 |
C |
A |
17: 9,669,373 |
R83L |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,690,634 |
Q226L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,312,734 |
I1127F |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,719,746 |
Q161L |
possibly damaging |
Het |
| Slc17a7 |
A |
T |
7: 45,168,788 |
T46S |
probably benign |
Het |
| Smad4 |
A |
G |
18: 73,641,810 |
S473P |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,438,354 |
T41S |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,786,737 |
L100P |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,038,395 |
N212K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,315,144 |
N396I |
possibly damaging |
Het |
| Stox2 |
G |
A |
8: 47,186,477 |
P894L |
probably benign |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,047,287 |
M1V |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,311,515 |
|
probably null |
Het |
| Tyrp1 |
T |
C |
4: 80,840,670 |
V260A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,911,064 |
Y4208H |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,979,080 |
K75* |
probably null |
Het |
| Vmn2r117 |
T |
A |
17: 23,479,407 |
N64I |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,973,535 |
|
probably null |
Het |
| Wnt8a |
A |
T |
18: 34,545,516 |
I128F |
probably damaging |
Het |
| Zc3h7b |
C |
A |
15: 81,779,260 |
Y484* |
probably null |
Het |
| Zfp619 |
A |
G |
7: 39,535,221 |
K225R |
probably benign |
Het |
|
| Other mutations in Ogfod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02305:Ogfod2
|
APN |
5 |
124112847 |
critical splice donor site |
probably null |
|
|
IGL03304:Ogfod2
|
APN |
5 |
124112823 |
missense |
probably damaging |
0.99 |
|
R0018:Ogfod2
|
UTSW |
5 |
124114525 |
unclassified |
probably benign |
|
|
R0681:Ogfod2
|
UTSW |
5 |
124112844 |
missense |
probably null |
1.00 |
|
R0751:Ogfod2
|
UTSW |
5 |
124113476 |
unclassified |
probably benign |
|
|
R1744:Ogfod2
|
UTSW |
5 |
124114156 |
splice site |
probably null |
|
|
R1800:Ogfod2
|
UTSW |
5 |
124114956 |
missense |
probably damaging |
1.00 |
|
R2211:Ogfod2
|
UTSW |
5 |
124112780 |
splice site |
probably null |
|
|
R3977:Ogfod2
|
UTSW |
5 |
124113209 |
splice site |
probably null |
|
|
R4346:Ogfod2
|
UTSW |
5 |
124113294 |
missense |
probably damaging |
1.00 |
|
R4508:Ogfod2
|
UTSW |
5 |
124113254 |
nonsense |
probably null |
|
|
R4537:Ogfod2
|
UTSW |
5 |
124114528 |
unclassified |
probably benign |
|
|
R5795:Ogfod2
|
UTSW |
5 |
124114761 |
missense |
probably damaging |
1.00 |
|
R6647:Ogfod2
|
UTSW |
5 |
124114803 |
missense |
possibly damaging |
0.95 |
|
R7101:Ogfod2
|
UTSW |
5 |
124114495 |
missense |
unknown |
|
|
R8139:Ogfod2
|
UTSW |
5 |
124113475 |
missense |
possibly damaging |
0.69 |
|
R9080:Ogfod2
|
UTSW |
5 |
124114944 |
missense |
probably damaging |
0.99 |
|
R9258:Ogfod2
|
UTSW |
5 |
124112442 |
missense |
probably benign |
|
|
R9619:Ogfod2
|
UTSW |
5 |
124114407 |
missense |
probably damaging |
1.00 |
|
R9675:Ogfod2
|
UTSW |
5 |
124114389 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAACCATAGCCTCTGCAG -3'
(R):5'- ACCCAAAAGTCTGCGTGTCC -3'
Sequencing Primer
(F):5'- TCTGCAGGCACCCGCAG -3'
(R):5'- TCCTTTTGACCCAAGGAGTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation