Incidental Mutation 'R5830:Obox6'
| ID |
449264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obox6
|
| Ensembl Gene |
ENSMUSG00000041583 |
| Gene Name |
oocyte specific homeobox 6 |
| Synonyms |
|
| MMRRC Submission |
043219-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
15567175-15573604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 15568382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 165
(H165Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108513]
|
| AlphaFold |
G3X9U1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108513
AA Change: H165Y
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104153
Gene: ENSMUSG00000041583
AA Change: H165Y
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
145 |
207 |
8.52e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit no detectable abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobec3 |
A |
T |
15: 79,783,268 (GRCm39) |
N115I |
possibly damaging |
Het |
| Arl14ep |
T |
C |
2: 106,799,539 (GRCm39) |
S101G |
possibly damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,779,485 (GRCm39) |
T200I |
probably damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,572 (GRCm39) |
H571N |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,312,016 (GRCm39) |
R99* |
probably null |
Het |
| Cdyl2 |
A |
G |
8: 117,321,823 (GRCm39) |
Y235H |
probably benign |
Het |
| Chmp2a |
T |
C |
7: 12,766,039 (GRCm39) |
D161G |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,831,862 (GRCm39) |
W2091R |
unknown |
Het |
| Epha8 |
G |
A |
4: 136,663,701 (GRCm39) |
Q452* |
probably null |
Het |
| Fbn2 |
A |
G |
18: 58,247,541 (GRCm39) |
F451S |
probably benign |
Het |
| Fndc1 |
C |
A |
17: 8,007,918 (GRCm39) |
R72L |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,699,888 (GRCm39) |
E81G |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,200,433 (GRCm39) |
V358A |
possibly damaging |
Het |
| Hnrnpk |
A |
T |
13: 58,545,548 (GRCm39) |
Y92* |
probably null |
Het |
| Il34 |
A |
G |
8: 111,475,323 (GRCm39) |
V71A |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,290,427 (GRCm39) |
F416L |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kdsr |
A |
G |
1: 106,675,262 (GRCm39) |
S125P |
possibly damaging |
Het |
| Ldb1 |
T |
A |
19: 46,022,557 (GRCm39) |
M307L |
probably benign |
Het |
| Lrr1 |
T |
A |
12: 69,225,445 (GRCm39) |
S374T |
possibly damaging |
Het |
| Mtmr2 |
A |
G |
9: 13,713,274 (GRCm39) |
I412V |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,589 (GRCm39) |
I298V |
possibly damaging |
Het |
| Ndst1 |
A |
G |
18: 60,836,910 (GRCm39) |
F384L |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,542 (GRCm39) |
E51G |
probably damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,457 (GRCm39) |
H159L |
possibly damaging |
Het |
| Pde8b |
A |
T |
13: 95,178,398 (GRCm39) |
F582Y |
probably benign |
Het |
| Pik3r4 |
C |
A |
9: 105,522,023 (GRCm39) |
Y196* |
probably null |
Het |
| Pink1 |
A |
T |
4: 138,043,325 (GRCm39) |
M1K |
probably null |
Het |
| Scn7a |
A |
T |
2: 66,544,395 (GRCm39) |
Y365* |
probably null |
Het |
| Sec16a |
A |
T |
2: 26,330,853 (GRCm39) |
D387E |
probably benign |
Het |
| Sel1l |
A |
T |
12: 91,799,945 (GRCm39) |
F127Y |
probably damaging |
Het |
| Syt7 |
T |
A |
19: 10,399,151 (GRCm39) |
N82K |
probably damaging |
Het |
| Zfp358 |
G |
T |
8: 3,545,846 (GRCm39) |
V143L |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,079,323 (GRCm39) |
N878S |
possibly damaging |
Het |
|
| Other mutations in Obox6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00705:Obox6
|
APN |
7 |
15,567,662 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01981:Obox6
|
APN |
7 |
15,568,846 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02066:Obox6
|
APN |
7 |
15,568,628 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02070:Obox6
|
APN |
7 |
15,568,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Obox6
|
APN |
7 |
15,567,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0091:Obox6
|
UTSW |
7 |
15,568,364 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0512:Obox6
|
UTSW |
7 |
15,567,874 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1686:Obox6
|
UTSW |
7 |
15,567,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Obox6
|
UTSW |
7 |
15,568,502 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1755:Obox6
|
UTSW |
7 |
15,568,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1813:Obox6
|
UTSW |
7 |
15,568,770 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1896:Obox6
|
UTSW |
7 |
15,568,770 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2086:Obox6
|
UTSW |
7 |
15,567,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Obox6
|
UTSW |
7 |
15,568,738 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4732:Obox6
|
UTSW |
7 |
15,568,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4733:Obox6
|
UTSW |
7 |
15,568,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4790:Obox6
|
UTSW |
7 |
15,568,502 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6838:Obox6
|
UTSW |
7 |
15,567,664 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7275:Obox6
|
UTSW |
7 |
15,567,805 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7347:Obox6
|
UTSW |
7 |
15,568,571 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7485:Obox6
|
UTSW |
7 |
15,567,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Obox6
|
UTSW |
7 |
15,567,481 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8438:Obox6
|
UTSW |
7 |
15,567,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8802:Obox6
|
UTSW |
7 |
15,567,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9274:Obox6
|
UTSW |
7 |
15,567,766 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9340:Obox6
|
UTSW |
7 |
15,567,722 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9566:Obox6
|
UTSW |
7 |
15,568,352 (GRCm39) |
missense |
|
|
|
R9641:Obox6
|
UTSW |
7 |
15,568,742 (GRCm39) |
nonsense |
probably null |
|
|
R9722:Obox6
|
UTSW |
7 |
15,568,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCCAAGCTGTCCCAAG -3'
(R):5'- CAGCTTTACCAATTCTGAGAAGC -3'
Sequencing Primer
(F):5'- GCTGTCCCAAGAATTTAAGAGC -3'
(R):5'- CTGAGAAGCCTCTTAATGCATTCAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation