|Institutional Source||Beutler Lab|
|Gene Name||sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E|
|Is this an essential gene?||Possibly non essential (E-score: 0.482)|
|Stock #||R5993 (G1)|
|Chromosomal Location||14025276-14256689 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 14224293 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 186 (E186G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000073612 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000073957]|
|Predicted Effect||probably damaging
AA Change: E186G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: E186G
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sema3e||
(F):5'- TAACACTGAGTGCTGCGTTTTC -3'
(R):5'- ACAGACTCAGTCATGGACCG -3'
(F):5'- GTTCAGAAAGAAATGGCTCCC -3'
(R):5'- TCAGTCATGGACCGTAGACTC -3'