Incidental Mutation 'IGL00597:Obox7'
| ID |
27734 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Obox7
|
| Ensembl Gene |
ENSMUSG00000055942 |
| Gene Name |
oocyte specific homeobox 7 |
| Synonyms |
Gm4745 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
IGL00597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
14393633-14399921 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
C to A
at 14397957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069740]
[ENSMUST00000183424]
[ENSMUST00000183788]
|
| AlphaFold |
Q4KL20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069740
|
| SMART Domains |
Protein: ENSMUSP00000069239
Gene: ENSMUSG00000055942
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.89e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183424
|
| SMART Domains |
Protein: ENSMUSP00000138871
Gene: ENSMUSG00000055942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Homeobox
|
95 |
137 |
7.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183788
|
| SMART Domains |
Protein: ENSMUSP00000138932
Gene: ENSMUSG00000055942
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.89e-13 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdkrb1 |
A |
T |
12: 105,571,210 (GRCm39) |
I259F |
probably damaging |
Het |
| Chac1 |
A |
G |
2: 119,184,040 (GRCm39) |
Y214C |
probably benign |
Het |
| Ctnnd2 |
A |
C |
15: 30,647,287 (GRCm39) |
T328P |
possibly damaging |
Het |
| Gart |
A |
G |
16: 91,435,677 (GRCm39) |
S179P |
possibly damaging |
Het |
| Gbp9 |
A |
G |
5: 105,242,364 (GRCm39) |
V125A |
probably damaging |
Het |
| Gpc6 |
T |
A |
14: 118,188,646 (GRCm39) |
S427T |
probably benign |
Het |
| Ifna7 |
A |
T |
4: 88,734,675 (GRCm39) |
I71F |
probably benign |
Het |
| Kcnip1 |
A |
T |
11: 33,593,289 (GRCm39) |
|
probably benign |
Het |
| Kcnip1 |
A |
T |
11: 33,593,294 (GRCm39) |
|
probably null |
Het |
| Krt86 |
A |
G |
15: 101,374,107 (GRCm39) |
K222R |
probably benign |
Het |
| Nacad |
G |
A |
11: 6,550,921 (GRCm39) |
P757S |
probably benign |
Het |
| Pam |
T |
A |
1: 97,762,169 (GRCm39) |
T805S |
probably benign |
Het |
| Pgam2 |
G |
A |
11: 5,753,442 (GRCm39) |
R83C |
probably damaging |
Het |
| Prtg |
T |
A |
9: 72,716,926 (GRCm39) |
I89N |
probably damaging |
Het |
| Rpusd4 |
T |
A |
9: 35,179,738 (GRCm39) |
V77E |
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,481,977 (GRCm39) |
Y50C |
probably damaging |
Het |
| Whamm |
T |
C |
7: 81,228,014 (GRCm39) |
V87A |
probably damaging |
Het |
|
| Other mutations in Obox7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02604:Obox7
|
APN |
7 |
14,399,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0058:Obox7
|
UTSW |
7 |
14,398,313 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1656:Obox7
|
UTSW |
7 |
14,399,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1977:Obox7
|
UTSW |
7 |
14,398,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3708:Obox7
|
UTSW |
7 |
14,398,122 (GRCm39) |
nonsense |
probably null |
|
|
R3939:Obox7
|
UTSW |
7 |
14,397,972 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4178:Obox7
|
UTSW |
7 |
14,398,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4178:Obox7
|
UTSW |
7 |
14,398,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4496:Obox7
|
UTSW |
7 |
14,399,299 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4818:Obox7
|
UTSW |
7 |
14,398,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Obox7
|
UTSW |
7 |
14,399,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9680:Obox7
|
UTSW |
7 |
14,398,067 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation