Incidental Mutation 'IGL02450:Obox6'
| ID |
294114 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Obox6
|
| Ensembl Gene |
ENSMUSG00000041583 |
| Gene Name |
oocyte specific homeobox 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL02450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15567175-15573604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15567638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 270
(C270R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108513]
|
| AlphaFold |
G3X9U1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108513
AA Change: C270R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104153
Gene: ENSMUSG00000041583
AA Change: C270R
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
145 |
207 |
8.52e-21 |
SMART |
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,798,963 (GRCm39) |
*781W |
probably null |
Het |
| Adamts16 |
C |
A |
13: 70,984,419 (GRCm39) |
R81S |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,546,855 (GRCm39) |
D386G |
probably benign |
Het |
| Anxa6 |
G |
A |
11: 54,885,767 (GRCm39) |
R393W |
probably damaging |
Het |
| Bdnf |
G |
A |
2: 109,553,949 (GRCm39) |
V108I |
possibly damaging |
Het |
| Bpgm |
C |
T |
6: 34,464,399 (GRCm39) |
R39W |
probably damaging |
Het |
| Cd101 |
T |
C |
3: 100,901,054 (GRCm39) |
E1006G |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,603,132 (GRCm39) |
E972V |
possibly damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,132,224 (GRCm39) |
Q133L |
probably benign |
Het |
| Cdk5r1 |
C |
T |
11: 80,368,666 (GRCm39) |
A111V |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,054,955 (GRCm39) |
I77F |
probably damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,674,766 (GRCm39) |
V39D |
possibly damaging |
Het |
| Gimap6 |
T |
C |
6: 48,681,351 (GRCm39) |
I94M |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,484,726 (GRCm39) |
V407A |
probably benign |
Het |
| Gm5784 |
C |
T |
12: 19,437,970 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9839 |
A |
T |
1: 32,559,964 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,992,213 (GRCm39) |
M566L |
probably benign |
Het |
| Jph1 |
G |
A |
1: 17,074,201 (GRCm39) |
P606S |
possibly damaging |
Het |
| Jup |
C |
T |
11: 100,269,183 (GRCm39) |
C410Y |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,239 (GRCm39) |
M777T |
probably benign |
Het |
| Lifr |
G |
T |
15: 7,220,246 (GRCm39) |
D959Y |
probably damaging |
Het |
| Lsm1 |
C |
A |
8: 26,283,806 (GRCm39) |
L73I |
possibly damaging |
Het |
| Maneal |
G |
A |
4: 124,750,928 (GRCm39) |
A276V |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,142,635 (GRCm39) |
D932G |
probably damaging |
Het |
| Nipbl |
C |
T |
15: 8,373,058 (GRCm39) |
V1063M |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,798 (GRCm39) |
V882A |
probably benign |
Het |
| Or13a19 |
A |
G |
7: 139,903,140 (GRCm39) |
H176R |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,571,835 (GRCm39) |
I925V |
possibly damaging |
Het |
| Pdhx |
A |
G |
2: 102,872,594 (GRCm39) |
S163P |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,331,461 (GRCm39) |
D271G |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,515 (GRCm39) |
I399T |
probably damaging |
Het |
| Pthlh |
T |
G |
6: 147,158,666 (GRCm39) |
D98A |
possibly damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,874,127 (GRCm39) |
S14P |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,698,249 (GRCm39) |
|
probably null |
Het |
| Tgtp2 |
C |
T |
11: 48,950,317 (GRCm39) |
G85D |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,683,897 (GRCm39) |
D739G |
probably damaging |
Het |
| Washc5 |
G |
A |
15: 59,204,166 (GRCm39) |
R706* |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,480,450 (GRCm39) |
D680E |
probably 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 |
|
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 |
|
R5830:Obox6
|
UTSW |
7 |
15,568,382 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation