|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: 0.240)|
|Stock #||R7879 (G1)|
|Chromosomal Location||57940112-57962865 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 57955080 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 189 (I189F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042211 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043059] [ENSMUST00000214314]|
|Predicted Effect||probably damaging
AA Change: I189F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I189F
|Predicted Effect||probably benign
|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 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'- ACTCCCTGGTTCTGTTTGAAG -3'
(R):5'- AGCTGACTGTTCAGATTTGTGC -3'
(F):5'- CTGTTTGAAGGTAGAACAGCATTG -3'
(R):5'- GGAAGTCCTCCTGGCACACATC -3'