Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02307:Ovol1'

287655

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: 0.707) question?

Stock #

IGL02307

Quality Score

Status

Chromosome

Chromosomal Location

5599165-5610603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5603643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 86 (D86V)

Ref Sequence

ENSEMBL: ENSMUSP00000025861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025861]

AlphaFold

Q9WTJ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025861
AA Change: D86V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025861
Gene: ENSMUSG00000024922
AA Change: D86V

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Ankrd28	A	G	14: 31,455,665 (GRCm39)	C417R	probably damaging	Het
Astn1	C	T	1: 158,502,184 (GRCm39)	R1133C	probably damaging	Het
Bdp1	C	A	13: 100,229,946 (GRCm39)	G256V	probably damaging	Het
Cald1	A	G	6: 34,730,390 (GRCm39)	K252E	probably damaging	Het
Ccdc141	T	C	2: 76,859,686 (GRCm39)	E985G	probably damaging	Het
Cdc23	A	G	18: 34,774,442 (GRCm39)	I279T	possibly damaging	Het
Col16a1	C	T	4: 129,952,802 (GRCm39)	P416L	probably damaging	Het
Coro1a	T	C	7: 126,300,736 (GRCm39)	D197G	probably damaging	Het
Ctnnd2	C	T	15: 30,647,357 (GRCm39)	T351I	possibly damaging	Het
Fam76b	A	G	9: 13,755,332 (GRCm39)	N313S	probably damaging	Het
Fbxw20	C	A	9: 109,062,601 (GRCm39)	W75L	possibly damaging	Het
Gjd2	T	C	2: 113,842,394 (GRCm39)	T28A	possibly damaging	Het
Glyctk	A	C	9: 106,032,963 (GRCm39)	L350R	possibly damaging	Het
Gm20726	A	T	14: 54,870,060 (GRCm39)	V237D	probably damaging	Het
Gm57858	T	C	3: 36,073,016 (GRCm39)	K422R	possibly damaging	Het
Gpr22	C	A	12: 31,758,739 (GRCm39)	C461F	possibly damaging	Het
Grhl2	A	G	15: 37,288,532 (GRCm39)	T279A	probably damaging	Het
Gstm3	G	A	3: 107,874,929 (GRCm39)	R108C	probably damaging	Het
Haus6	T	C	4: 86,502,072 (GRCm39)	T600A	possibly damaging	Het
Htra4	G	A	8: 25,523,710 (GRCm39)	A285V	probably damaging	Het
Igkv14-100	C	T	6: 68,496,349 (GRCm39)	P81S	probably damaging	Het
Kif24	T	G	4: 41,395,274 (GRCm39)	Q533P	probably benign	Het
Klhl1	A	T	14: 96,438,809 (GRCm39)	N496K	possibly damaging	Het
Lama3	G	T	18: 12,714,840 (GRCm39)	R1667L	probably benign	Het
Lct	T	A	1: 128,214,327 (GRCm39)	H1815L	possibly damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Mrpl15	A	T	1: 4,854,176 (GRCm39)	H86Q	possibly damaging	Het
Myo10	C	T	15: 25,776,401 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,229,201 (GRCm39)	L893P	probably damaging	Het
Or4n4b	A	C	14: 50,536,295 (GRCm39)	I157S	probably damaging	Het
Or51a8	A	T	7: 102,550,086 (GRCm39)	N171Y	probably benign	Het
Pacs2	T	A	12: 113,034,393 (GRCm39)	M851K	probably damaging	Het
Pde1a	A	T	2: 79,736,412 (GRCm39)	M39K	possibly damaging	Het
Pdpn	T	C	4: 143,000,550 (GRCm39)	H94R	possibly damaging	Het
Plcg2	T	A	8: 118,306,635 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,466,049 (GRCm39)	Y1210*	probably null	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Ros1	A	T	10: 52,004,534 (GRCm39)	S1008T	possibly damaging	Het
Rps18-ps6	G	T	13: 97,896,871 (GRCm39)	Q76K	probably benign	Het
Sis	A	T	3: 72,819,167 (GRCm39)		probably benign	Het
Spag9	T	A	11: 93,992,986 (GRCm39)		probably null	Het
Srbd1	A	G	17: 86,433,616 (GRCm39)	L327P	probably damaging	Het
Steap3	A	T	1: 120,169,390 (GRCm39)	Y264*	probably null	Het
Swap70	A	G	7: 109,880,501 (GRCm39)	E572G	probably benign	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trmt11	T	C	10: 30,470,150 (GRCm39)	D58G	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,901 (GRCm39)	S127P	probably damaging	Het
Usf1	T	A	1: 171,243,314 (GRCm39)	S30R	probably damaging	Het
Ush1c	A	G	7: 45,846,612 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,625,809 (GRCm39)	L124*	probably null	Het
Vmn2r75	T	C	7: 85,814,974 (GRCm39)	N173S	probably benign	Het
Zic2	T	C	14: 122,714,046 (GRCm39)	V320A	possibly damaging	Het

Other mutations in Ovol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03157:Ovol1	APN	19	5,601,635 (GRCm39)	missense	probably benign
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

2015-04-16