Incidental Mutation 'R8017:Obox2'
| ID |
656298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obox2
|
| Ensembl Gene |
ENSMUSG00000074369 |
| Gene Name |
oocyte specific homeobox 2 |
| Synonyms |
|
| MMRRC Submission |
067457-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.781)
|
| Stock # |
R8017 (G1)
|
| Quality Score |
154.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15122776-15132470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15130974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 69
(S69P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036575]
[ENSMUST00000172478]
[ENSMUST00000174076]
[ENSMUST00000174305]
[ENSMUST00000181001]
|
| AlphaFold |
E9PXV9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036575
AA Change: S69P
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042995
Gene: ENSMUSG00000074369
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172478
AA Change: S69P
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133450
Gene: ENSMUSG00000074369
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174076
AA Change: S69P
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133793
Gene: ENSMUSG00000074369
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174305
AA Change: S69P
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134275
Gene: ENSMUSG00000074369
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181001
|
| SMART Domains |
Protein: ENSMUSP00000138010
Gene: ENSMUSG00000054310
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
G |
2: 156,397,876 (GRCm39) |
I296S |
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,257,228 (GRCm39) |
I42V |
probably benign |
Het |
| Adam25 |
T |
A |
8: 41,207,124 (GRCm39) |
M130K |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,034,413 (GRCm39) |
F394Y |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,121,840 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,342,899 (GRCm39) |
N724S |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,648,748 (GRCm39) |
S211P |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,484 (GRCm39) |
V239E |
possibly damaging |
Het |
| Dcn |
G |
A |
10: 97,319,397 (GRCm39) |
R58Q |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,877,949 (GRCm39) |
N2678S |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,140,283 (GRCm39) |
S173P |
probably damaging |
Het |
| Fbxo24 |
C |
A |
5: 137,611,073 (GRCm39) |
M572I |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,447,889 (GRCm39) |
E145G |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,658,286 (GRCm39) |
V277A |
probably benign |
Het |
| Idi1 |
G |
A |
13: 8,937,974 (GRCm39) |
S140N |
probably benign |
Het |
| Kank1 |
TGCGA |
T |
19: 25,388,568 (GRCm39) |
|
probably null |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif20b |
T |
C |
19: 34,917,279 (GRCm39) |
V603A |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,161,867 (GRCm39) |
K276R |
probably benign |
Het |
| Lmbrd2 |
T |
A |
15: 9,172,317 (GRCm39) |
N370K |
probably benign |
Het |
| Map2k5 |
G |
T |
9: 63,246,403 (GRCm39) |
A108D |
probably damaging |
Het |
| Or2w2 |
G |
A |
13: 21,758,648 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
A |
C |
2: 89,969,170 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f57 |
G |
A |
2: 111,790,918 (GRCm39) |
P167S |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,783 (GRCm39) |
E613G |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Rab2a |
T |
C |
4: 8,604,444 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
A |
C |
10: 33,785,455 (GRCm39) |
R455S |
probably damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,850,840 (GRCm39) |
T439A |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,588 (GRCm39) |
E206G |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,231,204 (GRCm39) |
C222Y |
probably damaging |
Het |
| Tnfrsf11b |
C |
T |
15: 54,117,598 (GRCm39) |
W219* |
probably null |
Het |
| Ttc36 |
T |
C |
9: 44,710,898 (GRCm39) |
E144G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,597,801 (GRCm39) |
R19704H |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,091,403 (GRCm39) |
I1137S |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,826,637 (GRCm39) |
L226P |
probably damaging |
Het |
| Zbtb8b |
G |
A |
4: 129,322,238 (GRCm39) |
R408W |
probably damaging |
Het |
| Zfp268 |
A |
G |
4: 145,349,138 (GRCm39) |
T192A |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,896,193 (GRCm39) |
V308E |
probably benign |
Het |
|
| Other mutations in Obox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02798:Obox2
|
APN |
7 |
15,130,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1444:Obox2
|
UTSW |
7 |
15,130,957 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1620:Obox2
|
UTSW |
7 |
15,130,966 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1993:Obox2
|
UTSW |
7 |
15,131,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2394:Obox2
|
UTSW |
7 |
15,130,935 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2397:Obox2
|
UTSW |
7 |
15,130,971 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3702:Obox2
|
UTSW |
7 |
15,130,882 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4926:Obox2
|
UTSW |
7 |
15,131,102 (GRCm39) |
splice site |
probably null |
|
|
R6878:Obox2
|
UTSW |
7 |
15,131,245 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7373:Obox2
|
UTSW |
7 |
15,131,145 (GRCm39) |
nonsense |
probably null |
|
|
R7483:Obox2
|
UTSW |
7 |
15,131,241 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8023:Obox2
|
UTSW |
7 |
15,131,145 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8295:Obox2
|
UTSW |
7 |
15,131,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8682:Obox2
|
UTSW |
7 |
15,130,912 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9273:Obox2
|
UTSW |
7 |
15,131,290 (GRCm39) |
missense |
unknown |
|
|
R9340:Obox2
|
UTSW |
7 |
15,130,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9471:Obox2
|
UTSW |
7 |
15,131,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Obox2
|
UTSW |
7 |
15,130,771 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
|
Z1088:Obox2
|
UTSW |
7 |
15,131,263 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Obox2
|
UTSW |
7 |
15,131,121 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAAATGGCGGAAGGTCC -3'
(R):5'- CGAAACTTTCTTGAAGCCATTGGG -3'
Sequencing Primer
(F):5'- TTGCATCCAAAACTCCAAGTGGATTC -3'
(R):5'- CCATTGGGCTAGTTTGTTTGTTAAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation