Incidental Mutation 'R1252:Ovol1'
ID 151825
Institutional Source Beutler Lab
Gene Symbol Ovol1
Ensembl Gene ENSMUSG00000024922
Gene Name ovo like zinc finger 1
Synonyms Ovo1, movo1
MMRRC Submission 039319-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.707) question?
Stock # R1252 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5599165-5610603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5603629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 91 (T91A)
Ref Sequence ENSEMBL: ENSMUSP00000025861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025861]
AlphaFold Q9WTJ2
Predicted Effect probably benign
Transcript: ENSMUST00000025861
AA Change: T91A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025861
Gene: ENSMUSG00000024922
AA Change: T91A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211026
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.2%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acsm2 C T 7: 119,172,468 (GRCm39) H104Y probably benign Het
Adgrb3 G A 1: 25,167,909 (GRCm39) T1009M probably damaging Het
Arfgef2 A G 2: 166,701,877 (GRCm39) K755E probably damaging Het
Atm A T 9: 53,367,140 (GRCm39) D2491E probably damaging Het
Bptf A G 11: 106,964,077 (GRCm39) S1706P probably benign Het
Capn13 C T 17: 73,674,222 (GRCm39) G77D possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cdhr18 T C 14: 13,862,444 (GRCm38) D370G probably benign Het
Cep135 A G 5: 76,741,962 (GRCm39) K133E possibly damaging Het
Cyp2c67 A G 19: 39,614,585 (GRCm39) M314T possibly damaging Het
Dennd5b T C 6: 148,945,985 (GRCm39) D542G probably damaging Het
Dpys A T 15: 39,687,636 (GRCm39) N387K probably damaging Het
Erc1 A T 6: 119,720,353 (GRCm39) D749E possibly damaging Het
Gucy2e A T 11: 69,126,485 (GRCm39) F298L probably benign Het
Igsf10 A G 3: 59,239,269 (GRCm39) V304A probably benign Het
Kmt2b A T 7: 30,279,912 (GRCm39) C1363S probably damaging Het
Krt87 A G 15: 101,385,711 (GRCm39) Y295H probably damaging Het
Lmo7 T C 14: 102,138,019 (GRCm39) V396A probably damaging Het
Lpl A G 8: 69,345,311 (GRCm39) D105G probably benign Het
Lrrc45 C A 11: 120,606,297 (GRCm39) T135N probably benign Het
Ltn1 C T 16: 87,212,918 (GRCm39) A548T probably benign Het
Nectin2 T G 7: 19,451,523 (GRCm39) I504L probably benign Het
Nmbr T C 10: 14,636,187 (GRCm39) I52T probably benign Het
Nop14 A T 5: 34,807,899 (GRCm39) N354K probably benign Het
Olfm1 A G 2: 28,119,447 (GRCm39) I361V probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pigz T A 16: 31,760,808 (GRCm39) V3E possibly damaging Het
Pip4k2b T C 11: 97,635,420 (GRCm39) N4S probably benign Het
Slc23a2 A T 2: 131,904,117 (GRCm39) probably null Het
Slc66a2 A G 18: 80,334,813 (GRCm39) T211A possibly damaging Het
Speg A T 1: 75,403,739 (GRCm39) D2640V probably damaging Het
Trip12 G A 1: 84,754,071 (GRCm39) Q111* probably null Het
Trub2 A G 2: 29,672,170 (GRCm39) F141S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdfy4 A T 14: 32,693,729 (GRCm39) probably null Het
Zfp935 A G 13: 62,602,355 (GRCm39) F282L probably damaging Het
Zfp946 G T 17: 22,672,560 (GRCm39) probably null Het
Zkscan4 A G 13: 21,668,044 (GRCm39) E165G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTCCATGCGCTCTGGCTAAACG -3'
(R):5'- CTGGCTTGGGAATCTTCCTGGAAC -3'

Sequencing Primer
(F):5'- TCTGGCTAAACGAGTCTGC -3'
(R):5'- GGAATCTTCCTGGAACCCTGATAG -3'
Posted On 2014-01-29