|Institutional Source||Beutler Lab|
|Gene Name||sperm associated antigen 9|
|Synonyms||syd1, JIP4, Mapk8ip4, 4733401I23Rik, JLP, 3110018C07Rik, 4831406C20Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.723)|
|Stock #||R7655 (G1)|
|Chromosomal Location||93996091-94126085 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 93996563 bp|
|Amino Acid Change||Histidine to Proline at position 98 (H98P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042271 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041956]|
|Predicted Effect||possibly damaging
AA Change: H98P
PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: H98P
|Coding Region Coverage||
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'- GCTACGATGAGGAGGTGGTC -3'
(R):5'- GATGCCAGAGTGTCGCTTCC -3'
(F):5'- TCAAGGAGCTGATGCCACTG -3'
(R):5'- TCTCCTGGACACTCGCTGG -3'