|Institutional Source||Beutler Lab|
|Gene Name||sperm associated antigen 16|
|Synonyms||4930585K05Rik, Pf20, 4930524F24Rik, Wdr29, 4921511D23Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.207)|
|Stock #||R5174 (G1)|
|Chromosomal Location||69826970-70725132 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 70493796 bp|
|Amino Acid Change||Serine to Proline at position 545 (S545P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069821 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065425]|
|Predicted Effect||probably damaging
AA Change: S545P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S545P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7455|
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]
PHENOTYPE: Chimeric males carrying one copy of the mutated allele have impaired spermatogenesis, a significant loss of germ cells at the round spermatid stage, and disorganized sperm axoneme structure. No offspring carrying the mutated allele are produced from matings using male chimeras. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spag16||
(F):5'- TCATGTAAGGCTTCACATCTTAAGG -3'
(R):5'- AGCTTGTGATGTCTCTAGGTTAATACC -3'
(F):5'- GGCATTGATAAAACTGGAAC -3'
(R):5'- CTTGGACCCACATCAATG -3'