Incidental Mutation 'IGL02108:Odf1'
ID280050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Odf1
Ensembl Gene ENSMUSG00000061923
Gene Nameouter dense fiber of sperm tails 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02108
Quality Score
Status
Chromosome15
Chromosomal Location38219203-38226735 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 38226379 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 174 (Y174*)
Ref Sequence ENSEMBL: ENSMUSP00000080632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081966]
Predicted Effect probably null
Transcript: ENSMUST00000081966
AA Change: Y174*
SMART Domains Protein: ENSMUSP00000080632
Gene: ENSMUSG00000061923
AA Change: Y174*

DomainStartEndE-ValueType
coiled coil region 1 28 N/A INTRINSIC
internal_repeat_1 35 47 2.51e-7 PROSPERO
internal_repeat_1 45 57 2.51e-7 PROSPERO
low complexity region 67 96 N/A INTRINSIC
Pfam:HSP20 110 187 4.9e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with asthenozoospermia, oligozoospermia, detached sperm head and absent acrosome reaction. Mice heterozygous for this allele exhibit asthenozoospermia without altered fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging Het
Other mutations in Odf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3017:Odf1 UTSW 15 38226431 missense unknown
R4967:Odf1 UTSW 15 38226408 missense probably damaging 0.98
R5134:Odf1 UTSW 15 38226149 missense possibly damaging 0.68
R5319:Odf1 UTSW 15 38219619 missense probably benign 0.00
R5951:Odf1 UTSW 15 38226287 missense probably damaging 0.99
R7095:Odf1 UTSW 15 38219559 missense possibly damaging 0.86
R7197:Odf1 UTSW 15 38219550 missense probably benign 0.00
R8009:Odf1 UTSW 15 38226596 missense unknown
Z1088:Odf1 UTSW 15 38219674 missense probably benign 0.41
Posted On2015-04-16