|Institutional Source||Beutler Lab|
|Gene Name||sperm associated antigen 9|
|Synonyms||syd1, JIP4, Mapk8ip4, 4733401I23Rik, JLP, 3110018C07Rik, 4831406C20Rik|
|Essential gene?||Possibly essential (E-score: 0.687)|
|Stock #||R7665 (G1)|
|Chromosomal Location||93996091-94126085 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 94013654 bp (GRCm38)|
|Amino Acid Change||Glutamine to Leucine at position 112 (Q112L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042271 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041956]|
|AlphaFold||no structure available at present|
AA Change: Q112L
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: Q112L
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Male mice homozygous for a null mutation display reduced fertility with oligoasthenozoospermia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spag9||
(F):5'- AGGGTTTCGTTATAATATTAGAGAAGC -3'
(R):5'- ATTATTTGGAGACCTGTCAAATGAC -3'
(F):5'- TCTAGAAGAGGATGTCAGCTCTCC -3'
(R):5'- GTCAAATGACAGGGCTAATCACTC -3'