Incidental Mutation 'R7020:Ovol1'
ID 545592
Institutional Source Beutler Lab
Gene Symbol Ovol1
Ensembl Gene ENSMUSG00000024922
Gene Name ovo like zinc finger 1
Synonyms Ovo1, movo1
MMRRC Submission 045121-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.707) question?
Stock # R7020 (G1)
Quality Score 170.009
Status Validated
Chromosome 19
Chromosomal Location 5599165-5610603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5610261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 23 (P23L)
Ref Sequence ENSEMBL: ENSMUSP00000025861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025861]
AlphaFold Q9WTJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000025861
AA Change: P23L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025861
Gene: ENSMUSG00000024922
AA Change: P23L

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1574 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (52/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,634,975 (GRCm39) G188R probably damaging Het
Abhd3 T C 18: 10,645,127 (GRCm39) Y384C probably damaging Het
Cd209b T A 8: 3,968,783 (GRCm39) E282V probably damaging Het
Cep350 A C 1: 155,804,077 (GRCm39) L1002W probably damaging Het
Clcn1 T C 6: 42,275,754 (GRCm39) V292A probably damaging Het
Clcn7 T C 17: 25,365,325 (GRCm39) I107T possibly damaging Het
Cntrob A G 11: 69,193,918 (GRCm39) probably null Het
Crb1 A T 1: 139,159,341 (GRCm39) S1294T possibly damaging Het
Cst13 T G 2: 148,665,129 (GRCm39) Y41* probably null Het
Gp1ba A G 11: 70,531,139 (GRCm39) probably benign Het
Gucy2e A T 11: 69,123,619 (GRCm39) L427I probably benign Het
Gucy2g A G 19: 55,221,482 (GRCm39) S340P probably damaging Het
Herc1 A G 9: 66,393,360 (GRCm39) T4080A probably benign Het
Iglon5 A T 7: 43,126,319 (GRCm39) C195S probably damaging Het
Itgae A G 11: 73,002,195 (GRCm39) T100A probably damaging Het
Jarid2 C T 13: 45,038,300 (GRCm39) S205L probably damaging Het
Macrod2 A T 2: 142,231,795 (GRCm39) *424C probably null Het
Map2k6 A T 11: 110,397,540 (GRCm39) probably benign Het
Muc4 A T 16: 32,570,628 (GRCm39) K563* probably null Het
Myh7b T C 2: 155,473,671 (GRCm39) I1568T possibly damaging Het
Myo15b G A 11: 115,757,493 (GRCm39) W1114* probably null Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Notch1 T C 2: 26,371,586 (GRCm39) T288A possibly damaging Het
Npc1 C T 18: 12,331,594 (GRCm39) G859R probably damaging Het
Olfm2 T A 9: 20,579,864 (GRCm39) R326W probably damaging Het
Or2a7 T C 6: 43,151,096 (GRCm39) Y59H possibly damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5g23 A G 2: 85,438,976 (GRCm39) S93P probably benign Het
Pappa2 C A 1: 158,675,579 (GRCm39) V1056F probably damaging Het
Pik3ca T C 3: 32,490,428 (GRCm39) L25S probably damaging Het
Pla2r1 T C 2: 60,277,743 (GRCm39) H860R possibly damaging Het
Pms1 A T 1: 53,228,541 (GRCm39) H902Q probably damaging Het
Ptgs1 T G 2: 36,141,041 (GRCm39) L496R probably damaging Het
Ralgapa2 A T 2: 146,188,638 (GRCm39) Y1381* probably null Het
Rtl1 T C 12: 109,558,749 (GRCm39) Q1030R possibly damaging Het
Ryr3 T A 2: 112,583,423 (GRCm39) Y2816F probably benign Het
Sh2b2 T C 5: 136,253,153 (GRCm39) T340A possibly damaging Het
Slc30a5 T A 13: 100,961,421 (GRCm39) probably null Het
Spta1 T C 1: 174,036,918 (GRCm39) L1143P probably damaging Het
St8sia5 T C 18: 77,333,876 (GRCm39) I178T probably damaging Het
Tap2 A G 17: 34,433,388 (GRCm39) N517S possibly damaging Het
Tcp11 A G 17: 28,290,679 (GRCm39) Y227H possibly damaging Het
Usp34 A G 11: 23,343,954 (GRCm39) D1411G probably benign Het
Vmn2r105 A G 17: 20,429,336 (GRCm39) L580P probably damaging Het
Wdr19 A G 5: 65,413,657 (GRCm39) E1200G probably damaging Het
Xirp2 T C 2: 67,355,913 (GRCm39) V3558A probably benign Het
Xpo7 T C 14: 70,903,463 (GRCm39) N1082S probably benign Het
Zbtb49 A T 5: 38,370,711 (GRCm39) L390* probably null Het
Zfp639 C A 3: 32,574,261 (GRCm39) D295E probably damaging Het
Other mutations in Ovol1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- AAAGCCTCGGTTTGGAGTC -3'
(R):5'- CACTCTGTCCTAAGAACGTGG -3'

Sequencing Primer
(F):5'- CGGTTTGGAGTCCCCTTC -3'
(R):5'- GGCGACTCTTTCCTTGAACTG -3'
Posted On 2019-05-13