|Institutional Source||Beutler Lab|
|Gene Name||sperm associated antigen 6-like|
|Is this an essential gene?||Probably non essential (E-score: 0.231)|
|Stock #||R3796 (G1)|
|Chromosomal Location||16753016-16829456 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 16763052 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 477 (I477N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023468 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023468]|
|Predicted Effect||probably damaging
AA Change: I477N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I477N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.8926|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
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 an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Many homozygotes for a targeted null mutation exhibit reduced growth, hydrocephaly, and lethality by 8 weeks of age. Surviving males have sperm defects and are infertile, while females show reduced fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spag6l||
(F):5'- AAGCTATACATTGGCCTCATGTAG -3'
(R):5'- TTCGGTAGTAAAACTCTAACTTGGG -3'
(F):5'- GCTGCCTTCAGATCAAGATGTAG -3'
(R):5'- GAAAGAAGAAATGTTGTTTTGTGTGC -3'