|Institutional Source||Beutler Lab|
|Gene Name||SLIT and NTRK-like family, member 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4247 (G1)|
|Chromosomal Location||108908800-108914158 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 108912562 bp|
|Amino Acid Change||Valine to Alanine at position 239 (V239A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097897 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000100322]|
|Predicted Effect||possibly damaging
AA Change: V239A
PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: V239A
|Meta Mutation Damage Score||0.058|
|Coding Region Coverage||
|Validation Efficiency||98% (41/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display hypoactivity, reduced male body weight, elevated anxiety- and depression-like behavior, increased norepinephrine content in brain, and partial postnatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slitrk1||
(F):5'- TACCTCCATTTGGAACAGCCC -3'
(R):5'- AGTATGTGCCCATCACCCAC -3'
(F):5'- ATTTGGAACAGCCCCTGGG -3'
(R):5'- CCACCTCGACCTCCGTG -3'