Incidental Mutation 'R7961:Odf1'
ID 650136
Institutional Source Beutler Lab
Gene Symbol Odf1
Ensembl Gene ENSMUSG00000061923
Gene Name outer dense fiber of sperm tails 1
Synonyms
MMRRC Submission 046005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7961 (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 94% (44/47)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,878,870 (GRCm39) N751K possibly damaging Het
Bckdha G A 7: 25,330,903 (GRCm39) R288W probably damaging 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
Cntnap1 G A 11: 101,069,121 (GRCm39) A192T probably benign 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
Engase A G 11: 118,377,686 (GRCm39) D571G possibly damaging Het
Gm45871 C T 18: 90,609,883 (GRCm39) H374Y probably damaging Het
Icam5 T C 9: 20,950,051 (GRCm39) V870A possibly damaging Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krt71 T C 15: 101,643,877 (GRCm39) I454V probably damaging 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
Mia2 T A 12: 59,206,425 (GRCm39) probably null Het
Neurod4 A T 10: 130,106,356 (GRCm39) V306D possibly damaging Het
Nkiras2 A T 11: 100,510,628 (GRCm39) probably benign 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
Nubpl T A 12: 52,228,080 (GRCm39) L168* probably null Het
Or4c35 A G 2: 89,808,131 (GRCm39) Q3R probably benign Het
Or4k48 G A 2: 111,476,282 (GRCm39) S20F probably damaging Het
Or5d41 C A 2: 88,055,033 (GRCm39) M114I possibly damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Polm T C 11: 5,780,155 (GRCm39) D294G possibly damaging Het
Ppcs A T 4: 119,276,262 (GRCm39) S281T probably benign Het
Pramel34 T C 5: 93,784,543 (GRCm39) D307G 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
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgsm1 T C 5: 113,430,510 (GRCm39) T292A probably damaging Het
Smad3 G A 9: 63,557,564 (GRCm39) R420C possibly damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tmem200a A G 10: 25,869,904 (GRCm39) S122P 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
Usp25 A G 16: 76,856,150 (GRCm39) I248V probably damaging Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Zfp60 G A 7: 27,447,881 (GRCm39) G183D 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
R8009: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 2020-09-15