|Institutional Source||Beutler Lab|
|Gene Name||SLIT and NTRK-like family, member 6|
|Is this an essential gene?||Probably non essential (E-score: 0.183)|
|Stock #||R5689 (G1)|
|Chromosomal Location||110748580-110755149 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 110752126 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 50 (E50K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078386]|
|Predicted Effect||probably benign
AA Change: E50K
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: E50K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||95% (63/66)|
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'- GCCTGCAAGAATTCCAGGTTC -3'
(R):5'- ACAGAGTCAGATCCAATCATATGAC -3'
(F):5'- GGCCATTAAATGCACCAGTCTCTATG -3'
(R):5'- CAAAATGAAGCTGTGGACTTATCTCC -3'