Incidental Mutation 'R8009:Odf1'
ID 616825
Institutional Source Beutler Lab
Gene Symbol Odf1
Ensembl Gene ENSMUSG00000061923
Gene Name outer dense fiber of sperm tails 1
Synonyms
MMRRC Submission 046049-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8009 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 38219447-38226979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38226840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 247 (I247V)
Ref Sequence ENSEMBL: ENSMUSP00000080632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081966]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000081966
AA Change: I247V
SMART Domains Protein: ENSMUSP00000080632
Gene: ENSMUSG00000061923
AA Change: I247V

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,878,870 (GRCm39) N751K possibly damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Baz1a A T 12: 54,941,816 (GRCm39) Y1466* probably null Het
Ccng1 G A 11: 40,642,096 (GRCm39) H229Y probably benign Het
Cenpn C A 8: 117,663,976 (GRCm39) T256N probably benign Het
Ciart A G 3: 95,788,629 (GRCm39) V70A possibly damaging Het
Clcc1 A G 3: 108,568,774 (GRCm39) N36S probably damaging Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Dmrt3 T C 19: 25,588,272 (GRCm39) V37A possibly damaging Het
Dock1 T A 7: 134,346,786 (GRCm39) D239E possibly damaging Het
Dyrk3 A G 1: 131,063,995 (GRCm39) probably null Het
Esyt1 T C 10: 128,347,354 (GRCm39) E1057G probably benign Het
Fsip2 A G 2: 82,818,793 (GRCm39) E4842G possibly damaging Het
Gadd45b G A 10: 80,766,984 (GRCm39) V90I probably benign Het
Gfi1 T A 5: 107,871,667 (GRCm39) H79L probably damaging Het
Golm2 T C 2: 121,737,242 (GRCm39) V261A probably benign Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Itsn2 G A 12: 4,714,553 (GRCm39) A950T probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krtap5-4 C T 7: 141,857,671 (GRCm39) Q114* probably null Het
Loxl3 T C 6: 83,027,790 (GRCm39) F734S possibly damaging Het
Lpcat1 C T 13: 73,659,498 (GRCm39) T420I probably damaging Het
Lrch3 A T 16: 32,826,083 (GRCm39) D720V possibly damaging Het
Lrrk1 T C 7: 65,915,222 (GRCm39) D1622G possibly damaging Het
Meioc G C 11: 102,567,569 (GRCm39) A788P probably damaging Het
Mmp1a A T 9: 7,467,236 (GRCm39) T271S possibly damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Ntrk3 T A 7: 78,103,076 (GRCm39) D408V probably benign Het
Or14j5 A T 17: 38,161,693 (GRCm39) D70V probably damaging Het
Or8k39 A G 2: 86,563,848 (GRCm39) L36P probably damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Phactr3 A C 2: 177,974,737 (GRCm39) R523S probably damaging Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Ppcs A T 4: 119,276,262 (GRCm39) S281T probably benign Het
Prkcg A G 7: 3,362,708 (GRCm39) D294G probably benign Het
Psg28 T A 7: 18,156,922 (GRCm39) I438L probably damaging Het
Pspc1 G A 14: 57,009,304 (GRCm39) Q177* probably null Het
Rbm33 G A 5: 28,599,606 (GRCm39) G185R Het
Rps6ka5 T C 12: 100,544,048 (GRCm39) E350G probably damaging Het
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgce T C 6: 4,691,636 (GRCm39) D313G probably damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Stxbp5 A G 10: 9,692,046 (GRCm39) V366A probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tlr3 G A 8: 45,853,819 (GRCm39) T167M not run Het
Tmem200a A G 10: 25,869,904 (GRCm39) S122P probably damaging Het
Tmprss15 C T 16: 78,887,751 (GRCm39) V19M probably damaging Het
Tnks2 T A 19: 36,829,901 (GRCm39) M194K probably benign Het
Trav14d-3-dv8 A C 14: 53,316,224 (GRCm39) Q28P probably damaging Het
Trpm5 T C 7: 142,634,106 (GRCm39) E700G probably benign Het
Ubqln3 T A 7: 103,791,797 (GRCm39) I98L probably benign Het
Uso1 A T 5: 92,314,439 (GRCm39) E115D probably benign Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Other mutations in Odf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02108:Odf1 APN 15 38,226,623 (GRCm39) nonsense probably null
R3017:Odf1 UTSW 15 38,226,675 (GRCm39) missense unknown
R4967:Odf1 UTSW 15 38,226,652 (GRCm39) missense probably damaging 0.98
R5134:Odf1 UTSW 15 38,226,393 (GRCm39) missense possibly damaging 0.68
R5319:Odf1 UTSW 15 38,219,863 (GRCm39) missense probably benign 0.00
R5951:Odf1 UTSW 15 38,226,531 (GRCm39) missense probably damaging 0.99
R7095:Odf1 UTSW 15 38,219,803 (GRCm39) missense possibly damaging 0.86
R7197:Odf1 UTSW 15 38,219,794 (GRCm39) missense probably benign 0.00
R7961:Odf1 UTSW 15 38,226,840 (GRCm39) missense unknown
R9789:Odf1 UTSW 15 38,219,716 (GRCm39) missense probably benign 0.03
Z1088:Odf1 UTSW 15 38,219,918 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- TCGGCAGCTGTGTCAAGATC -3'
(R):5'- AGTGTCCTGGAATGCTTCTG -3'

Sequencing Primer
(F):5'- CAGCTGTGTCAAGATCGAGTCTC -3'
(R):5'- TAGCTAACTCTGTAGGGAGTCAAACC -3'
Posted On 2020-01-23