|Institutional Source||Beutler Lab|
|Gene Name||outer dense fiber of sperm tails 1|
|Is this an essential gene?||Probably non essential (E-score: 0.065)|
|Stock #||R5951 (G1)|
|Chromosomal Location||38219203-38226735 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 38226287 bp|
|Amino Acid Change||Tyrosine to Histidine at position 144 (Y144H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080632 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081966]|
|Predicted Effect||probably damaging
AA Change: Y144H
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: Y144H
|Meta Mutation Damage Score||0.12|
|Coding Region Coverage||
|Validation Efficiency||100% (78/78)|
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||
|Other mutations in Odf1||
(F):5'- ACTTTGATCCGTTGAGGCAC -3'
(R):5'- CATGGGTTGCAAGGATTACAGG -3'
(F):5'- TTGAGGCACCGTGACTGACAC -3'
(R):5'- TTGCAAGGATTACAGGGAGAC -3'