|Institutional Source||Beutler Lab|
|Gene Name||SLIT and NTRK-like family, member 6|
|Is this an essential gene?||Probably non essential (E-score: 0.196)|
|Stock #||R8454 (G1)|
|Chromosomal Location||110748580-110755149 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 110752046 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 76 (L76F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078386]|
|Predicted Effect||probably damaging
AA Change: L76F
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: L76F
|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 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. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous deficient mice show pronounced reduction in cochlear innervation. Innervation to the posterior crista is variably impaired and a there is a loss of neurons in the spiral and vestibular ganglia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slitrk6||
(F):5'- AGCCTGTTGAGCTTGCTGAAG -3'
(R):5'- AGTCACCAATGCCCTCAGTC -3'
(F):5'- GCCTGCAAGAATTCCAGGTTC -3'
(R):5'- TCAGTCAGAGGCTCTTGCGAC -3'