Incidental Mutation 'R3702:Obox2'
| ID |
341760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obox2
|
| Ensembl Gene |
ENSMUSG00000074369 |
| Gene Name |
oocyte specific homeobox 2 |
| Synonyms |
|
| MMRRC Submission |
040695-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.738)
|
| Stock # |
R3702 (G1)
|
| Quality Score |
48 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15122776-15132470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15130882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 38
(R38L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036575]
[ENSMUST00000172478]
[ENSMUST00000174076]
[ENSMUST00000174305]
[ENSMUST00000181001]
|
| AlphaFold |
E9PXV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036575
AA Change: R38L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000042995
Gene: ENSMUSG00000074369
AA Change: R38L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172478
AA Change: R38L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133450
Gene: ENSMUSG00000074369
AA Change: R38L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174076
AA Change: R38L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133793
Gene: ENSMUSG00000074369
AA Change: R38L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174305
AA Change: R38L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000134275
Gene: ENSMUSG00000074369
AA Change: R38L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
| Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
| Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
| Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
| Cpped1 |
G |
T |
16: 11,646,304 (GRCm39) |
D135E |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
| Myot |
T |
A |
18: 44,487,162 (GRCm39) |
|
probably null |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
| Pip4k2b |
A |
G |
11: 97,620,374 (GRCm39) |
|
probably benign |
Het |
| Ppig |
T |
A |
2: 69,563,553 (GRCm39) |
S89T |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,087 (GRCm39) |
S362P |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
| Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
| Tcea1 |
T |
C |
1: 4,965,158 (GRCm39) |
V276A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,036,709 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
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 |
|
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 |
|
R8017:Obox2
|
UTSW |
7 |
15,130,974 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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'- CACATGCTGAGTAGGTGGGATG -3'
(R):5'- ACTTGGATGCCCTGAGAATC -3'
Sequencing Primer
(F):5'- AAATGGGGGTTCTCTGGAGC -3'
(R):5'- AGAATCTTCTCAGAGTTGGTAAAAC -3'
|
| Posted On |
2015-09-23 |
Incidental Mutation