|Institutional Source||Beutler Lab|
|Gene Name||sperm acrosome associated 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||RF017 (G1)|
|Chromosomal Location||34024874-34050191 bp(-) (GRCm38)|
|Type of Mutation||small insertion (2 aa in frame mutation)|
|DNA Base Change (assembly)||CTCGC to CTCGCTGTCGC at 34049853 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000081785 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029927] [ENSMUST00000084734]|
|Coding Region Coverage||
|Validation Efficiency||100% (29/29)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice are infertile and display globozoospermia and asthenozoospermia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spaca1||
(F):5'- ATGCCAGAAAACTCTACAGAAGATG -3'
(R):5'- ACTGTTCGAAGCAGCCTCTC -3'
(F):5'- AAAAGGATGGGCTTCTGG -3'
(R):5'- GAAGCAGCCTCTCCTCCAG -3'