|Institutional Source||Beutler Lab|
|Gene Name||sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A|
|Synonyms||CDw108, Semal, 2900057C09Rik, Semaphorin K1|
|Is this an essential gene?||Probably non essential (E-score: 0.229)|
|Stock #||R0531 (G1)|
|Chromosomal Location||57940112-57962865 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 57960593 bp|
|Amino Acid Change||Serine to Asparagine at position 484 (S484N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042211 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043059]|
|Predicted Effect||possibly damaging
AA Change: S484N
PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: S484N
|Meta Mutation Damage Score||0.098|
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: The development of the olfactory tract is impaired in homozygous null mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sema7a||
(F):5'- ATCATTGGATGCTGACCGGGTGAG -3'
(R):5'- TGGCTCCGCTGGATTAATGGACTG -3'
(F):5'- TCTGTACCCTTGGGACGAC -3'
(R):5'- TGCAGCACTGATCTAGAATTAGGAG -3'