Incidental Mutation 'R4680:Obox1'
| ID |
349984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obox1
|
| Ensembl Gene |
ENSMUSG00000054310 |
| Gene Name |
oocyte specific homeobox 1 |
| Synonyms |
7420700M11Rik |
| MMRRC Submission |
041933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4680 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15281182-15290771 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15290089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 144
(N144I)
|
| 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: N144I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067691
Gene: ENSMUSG00000054310
AA Change: N144I
| 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: N144I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133504
Gene: ENSMUSG00000054310
AA Change: N144I
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172881
AA Change: N144I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134688
Gene: ENSMUSG00000054310
AA Change: N144I
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173245
AA Change: N144I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133496
Gene: ENSMUSG00000054310
AA Change: N144I
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173443
AA Change: N144I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134043
Gene: ENSMUSG00000054310
AA Change: N144I
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181001
AA Change: N144I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138010
Gene: ENSMUSG00000054310
AA Change: N144I
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,315,390 (GRCm39) |
L96Q |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,822,533 (GRCm39) |
Y368C |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,924,215 (GRCm39) |
N8S |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,408,409 (GRCm39) |
V2432A |
probably benign |
Het |
| Atf2 |
A |
T |
2: 73,659,025 (GRCm39) |
|
probably null |
Het |
| B3gnt2 |
A |
G |
11: 22,787,105 (GRCm39) |
S28P |
probably damaging |
Het |
| Chil5 |
A |
G |
3: 105,942,191 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
T |
15: 73,405,225 (GRCm39) |
H326L |
possibly damaging |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,118,475 (GRCm39) |
V461A |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,738,858 (GRCm39) |
Q31* |
probably null |
Het |
| Gpr26 |
A |
G |
7: 131,576,082 (GRCm39) |
T249A |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,386,735 (GRCm39) |
M958L |
probably damaging |
Het |
| Kat2b-ps |
A |
G |
5: 93,539,299 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm2b |
A |
T |
5: 123,072,849 (GRCm39) |
V343E |
probably damaging |
Het |
| Lipi |
A |
G |
16: 75,362,417 (GRCm39) |
|
probably null |
Het |
| Ltb4r1 |
T |
C |
14: 56,004,925 (GRCm39) |
F76S |
probably damaging |
Het |
| Msantd2 |
A |
G |
9: 37,434,387 (GRCm39) |
Y209C |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,647,437 (GRCm39) |
C401Y |
probably damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,813 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,665 (GRCm39) |
I46V |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,517 (GRCm39) |
I105F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,775 (GRCm39) |
E1630G |
unknown |
Het |
| Ppp2r5e |
C |
T |
12: 75,516,533 (GRCm39) |
R218Q |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,589,894 (GRCm39) |
T2586A |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,290,840 (GRCm39) |
N633S |
probably benign |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,452 (GRCm39) |
N284S |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,497,675 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Rwdd2b |
A |
G |
16: 87,233,950 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,610,119 (GRCm39) |
S4236T |
probably benign |
Het |
| Sigmar1 |
A |
G |
4: 41,741,251 (GRCm39) |
M1T |
probably null |
Het |
| Sncg |
T |
A |
14: 34,095,268 (GRCm39) |
N79I |
probably benign |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,763,021 (GRCm39) |
G3213S |
probably damaging |
Het |
| Uqcrc1 |
G |
A |
9: 108,776,929 (GRCm39) |
R77H |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,835,080 (GRCm39) |
L2756R |
possibly 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 |
|
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 |
|
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'- CACAGGGCATACTAGCTCAATC -3'
(R):5'- TTTGGGAATGGAATCCTCACC -3'
Sequencing Primer
(F):5'- GGGATGTCAAGTCATACACAGTC -3'
(R):5'- TTGGGAATGGAATCCTCACCAAATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation