|Institutional Source||Beutler Lab|
|Gene Name||SLIT and NTRK-like family, member 6|
|Is this an essential gene?||Probably non essential (E-score: 0.204)|
|Stock #||R0843 (G1)|
|Chromosomal Location||110748580-110755149 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 110750098 bp|
|Amino Acid Change||Histidine to Asparagine at position 726 (H726N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078386]|
|Predicted Effect||probably benign
AA Change: H726N
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: H726N
|Meta Mutation Damage Score||0.0724|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
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'- GAATCCCAGCATTTCTGCAAAAGCC -3'
(R):5'- TCTATGAACAACACATGGTGAGCCC -3'
(F):5'- CTCCAAGACTTCTAAGTAGTCGGG -3'
(R):5'- AGCCCAATGGTTCATGTCTACAG -3'