Incidental Mutation 'IGL03157:Ovol1'
| ID |
411296 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ovol1
|
| Ensembl Gene |
ENSMUSG00000024922 |
| Gene Name |
ovo like zinc finger 1 |
| Synonyms |
Ovo1, movo1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.710)
|
| Stock # |
IGL03157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5599165-5610603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5601635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 129
(H129R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025861]
|
| AlphaFold |
Q9WTJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025861
AA Change: H129R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025861
Gene: ENSMUSG00000024922
AA Change: H129R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
118 |
140 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
146 |
168 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
174 |
197 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
213 |
236 |
8.09e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211026
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]
PHENOTYPE: Null mutant homozygotes show reduced growth, abnormal hair, and cystic kidneys. Females are subfertile with dilated uterus and cervix, and constricted or imperforate vagina. Mutant males have small testes, with few mature germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
A |
6: 142,551,649 (GRCm39) |
|
probably benign |
Het |
| Adam30 |
A |
C |
3: 98,069,612 (GRCm39) |
K482Q |
possibly damaging |
Het |
| Aqp4 |
T |
C |
18: 15,533,037 (GRCm39) |
R19G |
probably benign |
Het |
| Arhgap32 |
C |
T |
9: 32,170,430 (GRCm39) |
P1070L |
probably damaging |
Het |
| Bcat2 |
T |
C |
7: 45,224,922 (GRCm39) |
I31T |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,308,092 (GRCm39) |
C1283* |
probably null |
Het |
| Fasn |
A |
G |
11: 120,698,735 (GRCm39) |
I2487T |
probably benign |
Het |
| Gys1 |
A |
G |
7: 45,089,323 (GRCm39) |
|
probably benign |
Het |
| Helz |
A |
G |
11: 107,468,714 (GRCm39) |
D79G |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,371,611 (GRCm39) |
D65G |
probably damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,401,636 (GRCm39) |
E490K |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,301,366 (GRCm39) |
K406E |
probably damaging |
Het |
| Kif26b |
T |
A |
1: 178,743,930 (GRCm39) |
L1342H |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,440,372 (GRCm39) |
K650E |
possibly damaging |
Het |
| Opn1sw |
T |
A |
6: 29,379,803 (GRCm39) |
N144Y |
possibly damaging |
Het |
| Or2b2b |
T |
C |
13: 21,859,112 (GRCm39) |
M1V |
probably null |
Het |
| Or6z1 |
A |
G |
7: 6,504,892 (GRCm39) |
L111P |
probably damaging |
Het |
| Or8k30 |
T |
C |
2: 86,339,367 (GRCm39) |
L188P |
possibly damaging |
Het |
| Pigv |
T |
C |
4: 133,392,841 (GRCm39) |
S110G |
probably benign |
Het |
| Pole |
T |
A |
5: 110,441,619 (GRCm39) |
F253L |
probably benign |
Het |
| Samd3 |
T |
C |
10: 26,139,740 (GRCm39) |
Y291H |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,304,372 (GRCm39) |
I605N |
probably damaging |
Het |
| Sult1a1 |
T |
A |
7: 126,274,489 (GRCm39) |
Y58F |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,439,223 (GRCm39) |
D362E |
probably benign |
Het |
| Thnsl2 |
T |
C |
6: 71,108,930 (GRCm39) |
T294A |
probably benign |
Het |
| Tnfsf10 |
G |
A |
3: 27,380,106 (GRCm39) |
G57R |
possibly damaging |
Het |
| Vps25 |
A |
T |
11: 101,147,723 (GRCm39) |
N73I |
probably benign |
Het |
| Wdfy1 |
G |
A |
1: 79,684,035 (GRCm39) |
H367Y |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,722,189 (GRCm39) |
L378P |
probably damaging |
Het |
|
| Other mutations in Ovol1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02307:Ovol1
|
APN |
19 |
5,603,643 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02874:Ovol1
|
APN |
19 |
5,601,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Ovol1
|
APN |
19 |
5,601,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1252:Ovol1
|
UTSW |
19 |
5,603,629 (GRCm39) |
missense |
probably benign |
|
|
R1611:Ovol1
|
UTSW |
19 |
5,601,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Ovol1
|
UTSW |
19 |
5,601,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4728:Ovol1
|
UTSW |
19 |
5,603,690 (GRCm39) |
nonsense |
probably null |
|
|
R5966:Ovol1
|
UTSW |
19 |
5,601,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Ovol1
|
UTSW |
19 |
5,610,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Ovol1
|
UTSW |
19 |
5,603,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7567:Ovol1
|
UTSW |
19 |
5,601,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8185:Ovol1
|
UTSW |
19 |
5,601,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:Ovol1
|
UTSW |
19 |
5,603,640 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation