Incidental Mutation 'IGL02411:Oog2'
ID |
292301 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Oog2
|
Ensembl Gene |
ENSMUSG00000066030 |
Gene Name |
oogenesin 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02411
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143917289-143923504 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143921618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 194
(H194L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080405]
[ENSMUST00000143978]
|
AlphaFold |
Q7TPX8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080405
AA Change: H176L
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000079267 Gene: ENSMUSG00000066030 AA Change: H176L
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 damaging
Transcript: ENSMUST00000143978
AA Change: H194L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
A |
G |
5: 64,055,459 (GRCm39) |
E65G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,756,431 (GRCm39) |
R1425C |
probably damaging |
Het |
Adcy3 |
A |
T |
12: 4,259,407 (GRCm39) |
|
probably null |
Het |
AI661453 |
T |
G |
17: 47,778,263 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
A |
T |
8: 15,004,819 (GRCm39) |
Y445F |
probably benign |
Het |
Atrx |
G |
T |
X: 104,874,587 (GRCm39) |
S1924R |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,733,763 (GRCm39) |
T58A |
possibly damaging |
Het |
Clec1b |
A |
G |
6: 129,378,804 (GRCm39) |
Y97C |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,928,084 (GRCm39) |
S1080P |
probably damaging |
Het |
Crb1 |
C |
A |
1: 139,176,213 (GRCm39) |
C529F |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,642,763 (GRCm39) |
R494* |
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,938,257 (GRCm39) |
|
probably benign |
Het |
Dntt |
T |
A |
19: 41,041,424 (GRCm39) |
|
probably null |
Het |
Gjb1 |
T |
C |
X: 100,428,611 (GRCm39) |
C280R |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,143,485 (GRCm39) |
C174S |
probably damaging |
Het |
Gm5414 |
A |
T |
15: 101,536,269 (GRCm39) |
Y119N |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Gm9796 |
G |
T |
11: 95,588,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
T |
C |
10: 56,621,388 (GRCm39) |
F17L |
unknown |
Het |
Il1rap |
A |
T |
16: 26,529,366 (GRCm39) |
D396V |
probably damaging |
Het |
Impa1 |
T |
C |
3: 10,388,018 (GRCm39) |
K135E |
possibly damaging |
Het |
Iqub |
G |
A |
6: 24,449,810 (GRCm39) |
A685V |
probably damaging |
Het |
Jade3 |
T |
C |
X: 20,379,063 (GRCm39) |
V512A |
probably benign |
Het |
Kif3a |
C |
A |
11: 53,461,525 (GRCm39) |
P57T |
probably damaging |
Het |
Kndc1 |
G |
T |
7: 139,501,829 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Maged2 |
G |
T |
X: 149,592,755 (GRCm39) |
D343E |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,883,707 (GRCm39) |
S120P |
probably damaging |
Het |
Nxph3 |
A |
T |
11: 95,401,656 (GRCm39) |
*253R |
probably null |
Het |
Pcbd2 |
T |
G |
13: 55,880,764 (GRCm39) |
W7G |
probably benign |
Het |
Pcdhb14 |
T |
G |
18: 37,582,823 (GRCm39) |
L643R |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,605,177 (GRCm39) |
|
probably null |
Het |
Poln |
G |
T |
5: 34,270,666 (GRCm39) |
S455* |
probably null |
Het |
Ppp2r1a |
T |
C |
17: 21,171,596 (GRCm39) |
|
probably benign |
Het |
Rsu1 |
T |
G |
2: 13,082,308 (GRCm39) |
|
probably benign |
Het |
Serpina10 |
A |
T |
12: 103,583,202 (GRCm39) |
M360K |
possibly damaging |
Het |
Sox30 |
A |
T |
11: 45,871,951 (GRCm39) |
K269* |
probably null |
Het |
Thbs1 |
T |
C |
2: 117,945,451 (GRCm39) |
V310A |
probably benign |
Het |
Tie1 |
C |
A |
4: 118,343,760 (GRCm39) |
E61* |
probably null |
Het |
Tm2d1 |
G |
T |
4: 98,268,911 (GRCm39) |
P62Q |
probably damaging |
Het |
Tpp1 |
G |
T |
7: 105,398,826 (GRCm39) |
P201Q |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,598 (GRCm39) |
E205G |
probably damaging |
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 |
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 |
R4167:Oog2
|
UTSW |
4 |
143,922,782 (GRCm39) |
missense |
probably benign |
0.18 |
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 |
|
Posted On |
2015-04-16 |