|Institutional Source||Beutler Lab|
|Gene Name||ovo like zinc finger 1|
|Is this an essential gene?||Possibly essential (E-score: 0.726)|
|Stock #||R7449 (G1)|
|Chromosomal Location||5549137-5560575 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 5553597 bp|
|Amino Acid Change||Aspartic acid to Valine at position 92 (D92V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025861 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025861]|
|Predicted Effect||probably benign
AA Change: D92V
PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: D92V
|Coding Region Coverage||
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||
|Other mutations in Ovol1||
(F):5'- TCTGGCTAAACGAGTCTGCG -3'
(R):5'- CTTCCTGGAACCCTGATAGATC -3'
(F):5'- CTAAACGAGTCTGCGAAAGTC -3'
(R):5'- GGAACCCTGATAGATCTTTTCTGCAC -3'