Incidental Mutation 'R0760:Ovol2'
| ID |
70033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ovol2
|
| Ensembl Gene |
ENSMUSG00000037279 |
| Gene Name |
ovo like zinc finger 2 |
| Synonyms |
Ovol2, movo2, Zfp339, 1810007D21Rik, M-OVO-B, M-OVO-A, M-OVO |
| MMRRC Submission |
038940-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0760 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
144147095-144174000 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 144173679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037423]
[ENSMUST00000103171]
|
| AlphaFold |
Q8CIV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037423
|
| SMART Domains |
Protein: ENSMUSP00000044026
Gene: ENSMUSG00000037279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
74 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
118 |
140 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
146 |
168 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
174 |
197 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
213 |
236 |
6.67e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103171
|
| SMART Domains |
Protein: ENSMUSP00000099460
Gene: ENSMUSG00000037279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
85 |
107 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
113 |
135 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
141 |
164 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
180 |
203 |
6.67e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153051
|
| Meta Mutation Damage Score |
0.9504 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.8%
|
| Validation Efficiency |
95% (39/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]
PHENOTYPE: Embryos homozygous for a null allele are small and die at E9.5-E10.5 with an open neural tube, impaired extraembryonic and embryonic vascularization, abnormal cardiogenesis and placental defects. Homozygotes for another null allele die by E10.5 with brain, neural crest, gut tube and heart anomalies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,324,661 (GRCm39) |
V120A |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,116,035 (GRCm39) |
V180M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,402,118 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
C |
2: 152,914,104 (GRCm39) |
N298T |
probably damaging |
Het |
| Ccni |
A |
G |
5: 93,331,188 (GRCm39) |
V261A |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyb5d1 |
A |
G |
11: 69,285,999 (GRCm39) |
F41L |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,203,966 (GRCm39) |
|
probably null |
Het |
| Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,216,119 (GRCm39) |
I33T |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,853,983 (GRCm39) |
S512T |
probably damaging |
Het |
| Gtpbp1 |
G |
A |
15: 79,603,356 (GRCm39) |
G140E |
probably damaging |
Het |
| Hspa4l |
T |
A |
3: 40,739,155 (GRCm39) |
L681* |
probably null |
Het |
| Hspg2 |
A |
G |
4: 137,239,660 (GRCm39) |
T456A |
probably damaging |
Het |
| Igkv3-1 |
A |
T |
6: 70,681,119 (GRCm39) |
D106V |
probably damaging |
Het |
| Inhbc |
C |
T |
10: 127,193,237 (GRCm39) |
G260S |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
| Kif5c |
T |
C |
2: 49,578,765 (GRCm39) |
I131T |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,558,315 (GRCm39) |
Y1133H |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,920,429 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
G |
8: 87,573,540 (GRCm39) |
Y744H |
probably damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,005 (GRCm39) |
Q183* |
probably null |
Het |
| Or1n2 |
A |
G |
2: 36,797,233 (GRCm39) |
S92G |
probably benign |
Het |
| Pappa2 |
C |
A |
1: 158,544,531 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,335,005 (GRCm39) |
E440K |
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,161,775 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,915,802 (GRCm39) |
N937S |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,642,722 (GRCm39) |
F541L |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,596,805 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,312,613 (GRCm39) |
P1111L |
possibly damaging |
Het |
| Rasal3 |
A |
G |
17: 32,611,146 (GRCm39) |
F929S |
probably benign |
Het |
| Rnf111 |
A |
G |
9: 70,336,960 (GRCm39) |
V909A |
probably damaging |
Het |
| Rnf168 |
A |
G |
16: 32,117,204 (GRCm39) |
|
probably null |
Het |
| Slc2a5 |
T |
C |
4: 150,224,124 (GRCm39) |
L244P |
probably benign |
Het |
| Snta1 |
T |
A |
2: 154,222,860 (GRCm39) |
I288F |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,498 (GRCm39) |
C297Y |
probably damaging |
Het |
| Trim44 |
C |
T |
2: 102,230,905 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,200,805 (GRCm39) |
I1164N |
possibly damaging |
Het |
|
| Other mutations in Ovol2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Ovol2
|
APN |
2 |
144,147,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Ovol2
|
APN |
2 |
144,147,650 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
boh
|
UTSW |
2 |
144,159,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Ovol2
|
UTSW |
2 |
144,147,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0883:Ovol2
|
UTSW |
2 |
144,173,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1672:Ovol2
|
UTSW |
2 |
144,147,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Ovol2
|
UTSW |
2 |
144,159,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4780:Ovol2
|
UTSW |
2 |
144,173,203 (GRCm39) |
intron |
probably benign |
|
|
R5127:Ovol2
|
UTSW |
2 |
144,159,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Ovol2
|
UTSW |
2 |
144,159,792 (GRCm39) |
missense |
probably benign |
|
|
R8962:Ovol2
|
UTSW |
2 |
144,147,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAATTTAGCCCTGTCTAGGGAG -3'
(R):5'- ATTTAAGGCATAGGTGTCGCCGAG -3'
Sequencing Primer
(F):5'- CCTGTCTAGGGAGAGAGCAC -3'
(R):5'- CTGCGAGTAACCTGGAGTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation