Incidental Mutation 'R1374:Obox1'
| ID |
157439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obox1
|
| Ensembl Gene |
ENSMUSG00000054310 |
| Gene Name |
oocyte specific homeobox 1 |
| Synonyms |
7420700M11Rik |
| MMRRC Submission |
039438-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R1374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15281182-15290771 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 15289426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067288]
[ENSMUST00000086122]
[ENSMUST00000172463]
[ENSMUST00000172881]
[ENSMUST00000173245]
[ENSMUST00000173443]
[ENSMUST00000181001]
|
| AlphaFold |
Q9D350 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067288
|
| SMART Domains |
Protein: ENSMUSP00000067691
Gene: ENSMUSG00000054310
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086122
|
| SMART Domains |
Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172463
|
| SMART Domains |
Protein: ENSMUSP00000133504
Gene: ENSMUSG00000054310
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172881
|
| SMART Domains |
Protein: ENSMUSP00000134688
Gene: ENSMUSG00000054310
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173245
|
| SMART Domains |
Protein: ENSMUSP00000133496
Gene: ENSMUSG00000054310
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173443
|
| SMART Domains |
Protein: ENSMUSP00000134043
Gene: ENSMUSG00000054310
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.1%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
A |
5: 142,456,213 (GRCm39) |
R344H |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,418,296 (GRCm39) |
|
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,348 (GRCm39) |
D377G |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,585,682 (GRCm39) |
G132D |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,881,228 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,024,541 (GRCm39) |
D1132G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,712,485 (GRCm39) |
E511G |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,991,187 (GRCm39) |
L619Q |
probably damaging |
Het |
| Inpp4b |
T |
G |
8: 82,470,445 (GRCm39) |
|
probably null |
Het |
| Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,288,798 (GRCm39) |
T519M |
probably damaging |
Het |
| Klhl8 |
A |
C |
5: 104,011,049 (GRCm39) |
L516R |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,270 (GRCm39) |
|
probably benign |
Het |
| Mlph |
T |
A |
1: 90,869,425 (GRCm39) |
S476T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
| Nfxl1 |
G |
A |
5: 72,681,488 (GRCm39) |
T681I |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,082 (GRCm39) |
S849P |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,190,755 (GRCm39) |
R31C |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,143,073 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,195 (GRCm39) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,695,642 (GRCm39) |
S1275P |
unknown |
Het |
| Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,321,715 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,995,275 (GRCm39) |
V791A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,857,095 (GRCm39) |
|
probably null |
Het |
| Sae1 |
A |
G |
7: 16,112,333 (GRCm39) |
I60T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,281 (GRCm39) |
T2626A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,783,428 (GRCm39) |
Q3419R |
probably damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,410,334 (GRCm39) |
L25P |
probably damaging |
Het |
| Zmym1 |
T |
A |
4: 126,943,404 (GRCm39) |
K230I |
probably damaging |
Het |
|
| Other mutations in Obox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0420:Obox1
|
UTSW |
7 |
15,290,178 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1527:Obox1
|
UTSW |
7 |
15,289,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1984:Obox1
|
UTSW |
7 |
15,289,135 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4585:Obox1
|
UTSW |
7 |
15,290,152 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4586:Obox1
|
UTSW |
7 |
15,290,152 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4680:Obox1
|
UTSW |
7 |
15,290,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Obox1
|
UTSW |
7 |
15,290,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Obox1
|
UTSW |
7 |
15,289,430 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6331:Obox1
|
UTSW |
7 |
15,289,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6596:Obox1
|
UTSW |
7 |
15,289,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Obox1
|
UTSW |
7 |
15,289,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7919:Obox1
|
UTSW |
7 |
15,290,256 (GRCm39) |
nonsense |
probably null |
|
|
R7946:Obox1
|
UTSW |
7 |
15,289,456 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8275:Obox1
|
UTSW |
7 |
15,290,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8447:Obox1
|
UTSW |
7 |
15,289,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9618:Obox1
|
UTSW |
7 |
15,289,624 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTTCAAATGCGTCAGAGTCCC -3'
(R):5'- TGTAACACCAACTGATAGTGCCAGC -3'
Sequencing Primer
(F):5'- GAAATCAAGTCTTTCAGTCCCTG -3'
(R):5'- CTGATAGTGCCAGCTCCAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation