|Institutional Source||Beutler Lab|
|Gene Name||synapse defective 1, Rho GTPase, homolog 1 (C. elegans)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5287 (G1)|
|Chromosomal Location||78584503-78591964 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 78590037 bp|
|Amino Acid Change||Arginine to Glycine at position 99 (R99G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043085 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040580]|
|Predicted Effect||probably benign
AA Change: R99G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: R99G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1176|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced miniature excitatory postsynaptic current freuqency and docked vesciles in CA1 synpases. Mice homozygous for another allele exhibit reduced embryos and placental weight with abnormal placenta morphology and placental vasculature. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Syde1||
(F):5'- AATCTTATGGTCCTTGCGGG -3'
(R):5'- AGAACCTCGTGTCCTTGAAG -3'
(F):5'- AACACCTGGAGTATAGGGTTTG -3'
(R):5'- TCCTTGAAGGGTCTCAGGC -3'