Incidental Mutation 'R6596:Obox1'
ID |
525968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Obox1
|
Ensembl Gene |
ENSMUSG00000054310 |
Gene Name |
oocyte specific homeobox 1 |
Synonyms |
7420700M11Rik |
MMRRC Submission |
044720-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R6596 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
15281182-15290771 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 15289301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 72
(S72L)
|
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 damaging
Transcript: ENSMUST00000067288
AA Change: S72L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067691 Gene: ENSMUSG00000054310 AA Change: S72L
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 damaging
Transcript: ENSMUST00000172463
AA Change: S72L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133504 Gene: ENSMUSG00000054310 AA Change: S72L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172881
AA Change: S72L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134688 Gene: ENSMUSG00000054310 AA Change: S72L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173245
AA Change: S72L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133496 Gene: ENSMUSG00000054310 AA Change: S72L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173443
AA Change: S72L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134043 Gene: ENSMUSG00000054310 AA Change: S72L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000181001
AA Change: S72L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138010 Gene: ENSMUSG00000054310 AA Change: S72L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
Crnn |
G |
A |
3: 93,054,182 (GRCm39) |
E22K |
probably damaging |
Het |
Dcstamp |
A |
C |
15: 39,617,605 (GRCm39) |
T5P |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
Or4b1 |
T |
A |
2: 89,979,622 (GRCm39) |
T243S |
possibly damaging |
Het |
Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
Plk2 |
C |
T |
13: 110,534,296 (GRCm39) |
A292V |
probably benign |
Het |
Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
Tbc1d16 |
A |
C |
11: 119,048,601 (GRCm39) |
W351G |
probably damaging |
Het |
Tbx15 |
A |
G |
3: 99,259,508 (GRCm39) |
S460G |
probably benign |
Het |
Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
Tpte |
T |
C |
8: 22,823,285 (GRCm39) |
L304P |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,456,382 (GRCm39) |
F325I |
probably benign |
Het |
Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
probably null |
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 |
R1374:Obox1
|
UTSW |
7 |
15,289,426 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- CACACAAATGGCGGAAGGTC -3'
(R):5'- AAACTTTCTTGAAGCCATTGGG -3'
Sequencing Primer
(F):5'- TCCAAGTGGATTCGAATATACCC -3'
(R):5'- CCATTGGGCCAGTTTGTTTGTTAAC -3'
|
Posted On |
2018-06-22 |