Incidental Mutation 'R4167:Oog2'
| ID |
320619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oog2
|
| Ensembl Gene |
ENSMUSG00000066030 |
| Gene Name |
oogenesin 2 |
| Synonyms |
|
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143917289-143923504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143922782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 349
(Q349L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080405]
[ENSMUST00000143978]
|
| AlphaFold |
Q7TPX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080405
AA Change: Q349L
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000079267
Gene: ENSMUSG00000066030
AA Change: Q349L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
391 |
2e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141847
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143978
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
|
| Other mutations in Oog2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Oog2
|
APN |
4 |
143,921,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01317:Oog2
|
APN |
4 |
143,921,837 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01697:Oog2
|
APN |
4 |
143,921,754 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02237:Oog2
|
APN |
4 |
143,923,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02411:Oog2
|
APN |
4 |
143,921,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02476:Oog2
|
APN |
4 |
143,921,799 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03284:Oog2
|
APN |
4 |
143,923,177 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03394:Oog2
|
APN |
4 |
143,920,576 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0538:Oog2
|
UTSW |
4 |
143,922,654 (GRCm39) |
nonsense |
probably null |
|
|
R0892:Oog2
|
UTSW |
4 |
143,923,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1024:Oog2
|
UTSW |
4 |
143,922,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4156:Oog2
|
UTSW |
4 |
143,920,523 (GRCm39) |
intron |
probably benign |
|
|
R4157:Oog2
|
UTSW |
4 |
143,920,523 (GRCm39) |
intron |
probably benign |
|
|
R4166:Oog2
|
UTSW |
4 |
143,921,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Oog2
|
UTSW |
4 |
143,920,511 (GRCm39) |
intron |
probably benign |
|
|
R4734:Oog2
|
UTSW |
4 |
143,923,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4741:Oog2
|
UTSW |
4 |
143,921,715 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4909:Oog2
|
UTSW |
4 |
143,921,669 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4954:Oog2
|
UTSW |
4 |
143,917,302 (GRCm39) |
start gained |
probably benign |
|
|
R6437:Oog2
|
UTSW |
4 |
143,921,678 (GRCm39) |
splice site |
probably null |
|
|
R6487:Oog2
|
UTSW |
4 |
143,923,055 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6946:Oog2
|
UTSW |
4 |
143,923,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7000:Oog2
|
UTSW |
4 |
143,921,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Oog2
|
UTSW |
4 |
143,921,745 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7303:Oog2
|
UTSW |
4 |
143,921,912 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7399:Oog2
|
UTSW |
4 |
143,921,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8004:Oog2
|
UTSW |
4 |
143,920,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8141:Oog2
|
UTSW |
4 |
143,920,777 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8411:Oog2
|
UTSW |
4 |
143,920,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Oog2
|
UTSW |
4 |
143,920,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9290:Oog2
|
UTSW |
4 |
143,923,015 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9348:Oog2
|
UTSW |
4 |
143,921,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Oog2
|
UTSW |
4 |
143,922,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF009:Oog2
|
UTSW |
4 |
143,921,855 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1177:Oog2
|
UTSW |
4 |
143,920,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGAAAGCAACCATTTCTTC -3'
(R):5'- GGCAGGGTATAGCTCATCAG -3'
Sequencing Primer
(F):5'- AGAAGCCCTTGGAAGTACTTTCG -3'
(R):5'- CTCATCAGCTAGCTGGCTAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation