Incidental Mutation 'R6487:Oog2'
ID |
517473 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oog2
|
Ensembl Gene |
ENSMUSG00000066030 |
Gene Name |
oogenesin 2 |
Synonyms |
|
MMRRC Submission |
044619-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6487 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143917289-143923504 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143923055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 440
(E440G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080405]
[ENSMUST00000143978]
|
AlphaFold |
Q7TPX8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080405
AA Change: E440G
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000079267 Gene: ENSMUSG00000066030 AA Change: E440G
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,616,446 (GRCm39) |
Y963H |
possibly damaging |
Het |
Alpk2 |
T |
C |
18: 65,399,254 (GRCm39) |
N2108S |
possibly damaging |
Het |
Atp13a1 |
T |
C |
8: 70,252,528 (GRCm39) |
S641P |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,968,552 (GRCm39) |
V981I |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,012,694 (GRCm39) |
K277N |
possibly damaging |
Het |
Cops5 |
T |
C |
1: 10,108,004 (GRCm39) |
T12A |
probably benign |
Het |
Cyp2c37 |
A |
T |
19: 39,983,025 (GRCm39) |
T205S |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,808,284 (GRCm39) |
V3485A |
probably damaging |
Het |
Ifna6 |
A |
T |
4: 88,745,743 (GRCm39) |
N31Y |
probably damaging |
Het |
Irgm1 |
C |
A |
11: 48,756,777 (GRCm39) |
A345S |
probably benign |
Het |
Kics2 |
T |
C |
10: 121,581,446 (GRCm39) |
L13P |
probably damaging |
Het |
Med13 |
T |
C |
11: 86,221,976 (GRCm39) |
T218A |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,976,721 (GRCm39) |
D1225Y |
probably damaging |
Het |
Npepl1 |
A |
G |
2: 173,953,525 (GRCm39) |
E152G |
probably benign |
Het |
Or4c35 |
A |
T |
2: 89,808,182 (GRCm39) |
D20V |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,166,012 (GRCm39) |
D137G |
probably benign |
Het |
Or5d41 |
A |
G |
2: 88,054,870 (GRCm39) |
S169P |
possibly damaging |
Het |
Or5h26 |
A |
T |
16: 58,988,536 (GRCm39) |
|
probably null |
Het |
Or8b54 |
A |
G |
9: 38,686,731 (GRCm39) |
Y60C |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
Rims4 |
A |
T |
2: 163,706,817 (GRCm39) |
F187Y |
possibly damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Shisa9 |
C |
T |
16: 12,062,475 (GRCm39) |
T232I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,214,736 (GRCm39) |
I650N |
probably damaging |
Het |
Tpst2 |
T |
C |
5: 112,455,989 (GRCm39) |
L176P |
probably damaging |
Het |
U2surp |
A |
T |
9: 95,359,565 (GRCm39) |
M650K |
probably damaging |
Het |
Vmn1r17 |
A |
T |
6: 57,338,209 (GRCm39) |
M3K |
possibly damaging |
Het |
Vmn1r55 |
A |
G |
7: 5,149,554 (GRCm39) |
S290P |
probably benign |
Het |
Vmn2r102 |
G |
A |
17: 19,898,169 (GRCm39) |
E395K |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,414,249 (GRCm39) |
H370Q |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,663,879 (GRCm39) |
S347G |
possibly 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 |
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 |
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 |
|
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'- CCCTAAGTCAATGTTACCAGCTC -3'
(R):5'- CCAGCAAGGGACATTCACTTAG -3'
Sequencing Primer
(F):5'- GTCAATGTTACCAGCTCACAGTAG -3'
(R):5'- GCAAGGGACATTCACTTAGGATATC -3'
|
Posted On |
2018-05-21 |