Incidental Mutation 'R2394:Oog3'
| ID |
247904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oog3
|
| Ensembl Gene |
ENSMUSG00000050810 |
| Gene Name |
oogenesin 3 |
| Synonyms |
|
| MMRRC Submission |
040362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R2394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143884126-143889221 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143885884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 238
(D238V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050933]
|
| AlphaFold |
Q3UWY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050933
AA Change: D238V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000059834
Gene: ENSMUSG00000050810
AA Change: D238V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
226 |
428 |
7e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
| Atxn7 |
T |
C |
14: 14,100,237 (GRCm38) |
V641A |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,952,175 (GRCm39) |
I202K |
possibly damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,178,058 (GRCm39) |
I423V |
probably benign |
Het |
| Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
| Htr3a |
A |
G |
9: 48,817,643 (GRCm39) |
V110A |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
| Lrrc46 |
T |
C |
11: 96,929,657 (GRCm39) |
I60V |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
| Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
| Obox2 |
C |
T |
7: 15,130,935 (GRCm39) |
P56S |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
| Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
| Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
| Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,453,743 (GRCm39) |
D96E |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
| Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
|
| Other mutations in Oog3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02413:Oog3
|
APN |
4 |
143,884,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02517:Oog3
|
APN |
4 |
143,885,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02635:Oog3
|
APN |
4 |
143,884,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Oog3
|
UTSW |
4 |
143,884,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Oog3
|
UTSW |
4 |
143,884,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Oog3
|
UTSW |
4 |
143,886,784 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0617:Oog3
|
UTSW |
4 |
143,886,784 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1147:Oog3
|
UTSW |
4 |
143,884,982 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1147:Oog3
|
UTSW |
4 |
143,884,982 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1562:Oog3
|
UTSW |
4 |
143,889,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1669:Oog3
|
UTSW |
4 |
143,885,008 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1766:Oog3
|
UTSW |
4 |
143,885,692 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2002:Oog3
|
UTSW |
4 |
143,884,675 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2109:Oog3
|
UTSW |
4 |
143,886,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Oog3
|
UTSW |
4 |
143,884,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4632:Oog3
|
UTSW |
4 |
143,884,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Oog3
|
UTSW |
4 |
143,885,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5459:Oog3
|
UTSW |
4 |
143,885,815 (GRCm39) |
missense |
probably benign |
|
|
R5547:Oog3
|
UTSW |
4 |
143,884,598 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6811:Oog3
|
UTSW |
4 |
143,886,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6931:Oog3
|
UTSW |
4 |
143,885,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7052:Oog3
|
UTSW |
4 |
143,887,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Oog3
|
UTSW |
4 |
143,889,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7312:Oog3
|
UTSW |
4 |
143,886,801 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7486:Oog3
|
UTSW |
4 |
143,884,742 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7622:Oog3
|
UTSW |
4 |
143,884,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8782:Oog3
|
UTSW |
4 |
143,885,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8790:Oog3
|
UTSW |
4 |
143,885,710 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8794:Oog3
|
UTSW |
4 |
143,884,556 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9586:Oog3
|
UTSW |
4 |
143,884,966 (GRCm39) |
nonsense |
probably null |
|
|
R9652:Oog3
|
UTSW |
4 |
143,884,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9653:Oog3
|
UTSW |
4 |
143,884,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Oog3
|
UTSW |
4 |
143,886,206 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1088:Oog3
|
UTSW |
4 |
143,884,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGGATTTCATTCAGGTTGC -3'
(R):5'- AGGGCAGACTTGATGATTCTG -3'
Sequencing Primer
(F):5'- AGAGTTTCTGGAGACAGG -3'
(R):5'- CAGACTTGATGATTCTGCCACATAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation