|Institutional Source||Beutler Lab|
|Gene Name||sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A|
|Synonyms||semF, 9130201M22Rik, Semaf, M-Sema D|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7072 (G1)|
|Chromosomal Location||32244810-32696341 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 32574959 bp|
|Amino Acid Change||Histidine to Glutamine at position 404 (H404Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069024 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067458]|
|Predicted Effect||possibly damaging
AA Change: H404Q
PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: H404Q
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for one null mutation die during organogenesis and display defects in branching of cranial vessels. Mice homozygous for another null mutation appear normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sema5a||
(F):5'- TTGATTCGGTTGCACACTCAG -3'
(R):5'- TGGGTTCCACTTGTCATGAC -3'
(F):5'- GTGGGCATCCAGCTTTTACAAC -3'
(R):5'- TCATGACAATACAGGTCCATGGCTG -3'