Incidental Mutation 'R0711:Slitrk6'
ID 62762
Institutional Source Beutler Lab
Gene Symbol Slitrk6
Ensembl Gene ENSMUSG00000045871
Gene Name SLIT and NTRK-like family, member 6
Synonyms 4832410J21Rik
MMRRC Submission 038894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R0711 (G1)
Quality Score 144
Status Validated
Chromosome 14
Chromosomal Location 110986012-110992581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110987251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 819 (Y819N)
Ref Sequence ENSEMBL: ENSMUSP00000077492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078386]
AlphaFold Q8C110
Predicted Effect probably damaging
Transcript: ENSMUST00000078386
AA Change: Y819N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: Y819N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:LRRNT 30 68 4e-15 BLAST
LRR 87 110 1.71e1 SMART
LRR 111 134 3.07e-1 SMART
LRR 135 158 4.44e0 SMART
LRR_TYP 159 182 2.09e-3 SMART
LRR 185 206 6.23e1 SMART
LRRCT 218 268 5.61e-5 SMART
low complexity region 287 301 N/A INTRINSIC
Blast:LRRNT 327 364 2e-17 BLAST
LRR 388 408 2.68e1 SMART
LRR_TYP 409 432 3.63e-3 SMART
LRR_TYP 433 456 6.23e-2 SMART
LRR_TYP 457 480 3.69e-4 SMART
low complexity region 501 513 N/A INTRINSIC
LRRCT 516 566 1.53e-6 SMART
transmembrane domain 610 632 N/A INTRINSIC
low complexity region 634 642 N/A INTRINSIC
Meta Mutation Damage Score 0.2626 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
MGI Phenotype 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
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) probably benign Het
Other mutations in Slitrk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Slitrk6 APN 14 110,988,547 (GRCm39) missense probably benign 0.35
IGL01131:Slitrk6 APN 14 110,989,008 (GRCm39) missense probably damaging 1.00
IGL01294:Slitrk6 APN 14 110,987,506 (GRCm39) missense probably benign
IGL01295:Slitrk6 APN 14 110,988,868 (GRCm39) missense possibly damaging 0.50
IGL01762:Slitrk6 APN 14 110,989,056 (GRCm39) missense probably damaging 1.00
IGL02165:Slitrk6 APN 14 110,989,249 (GRCm39) missense probably benign 0.41
IGL02546:Slitrk6 APN 14 110,987,226 (GRCm39) missense probably benign 0.18
IGL03103:Slitrk6 APN 14 110,987,373 (GRCm39) missense probably benign
PIT1430001:Slitrk6 UTSW 14 110,987,859 (GRCm39) missense possibly damaging 0.93
PIT4480001:Slitrk6 UTSW 14 110,987,257 (GRCm39) frame shift probably null
R0035:Slitrk6 UTSW 14 110,987,364 (GRCm39) missense probably damaging 1.00
R0066:Slitrk6 UTSW 14 110,987,364 (GRCm39) missense probably damaging 1.00
R0067:Slitrk6 UTSW 14 110,987,364 (GRCm39) missense probably damaging 1.00
R0069:Slitrk6 UTSW 14 110,987,364 (GRCm39) missense probably damaging 1.00
R0107:Slitrk6 UTSW 14 110,989,395 (GRCm39) missense possibly damaging 0.69
R0157:Slitrk6 UTSW 14 110,987,364 (GRCm39) missense probably damaging 1.00
R0422:Slitrk6 UTSW 14 110,989,725 (GRCm39) start gained probably benign
R0422:Slitrk6 UTSW 14 110,987,364 (GRCm39) missense probably damaging 1.00
R0454:Slitrk6 UTSW 14 110,987,364 (GRCm39) missense probably damaging 1.00
R0505:Slitrk6 UTSW 14 110,987,364 (GRCm39) missense probably damaging 1.00
R0633:Slitrk6 UTSW 14 110,989,317 (GRCm39) missense probably damaging 1.00
R0843:Slitrk6 UTSW 14 110,987,530 (GRCm39) missense probably benign
R1298:Slitrk6 UTSW 14 110,989,297 (GRCm39) missense possibly damaging 0.94
R1693:Slitrk6 UTSW 14 110,988,360 (GRCm39) missense probably damaging 1.00
R1756:Slitrk6 UTSW 14 110,987,984 (GRCm39) missense probably benign
R1998:Slitrk6 UTSW 14 110,989,255 (GRCm39) missense probably damaging 0.99
R2049:Slitrk6 UTSW 14 110,988,226 (GRCm39) missense probably benign 0.00
R2140:Slitrk6 UTSW 14 110,988,226 (GRCm39) missense probably benign 0.00
R2142:Slitrk6 UTSW 14 110,988,226 (GRCm39) missense probably benign 0.00
R2314:Slitrk6 UTSW 14 110,989,387 (GRCm39) missense probably damaging 1.00
R2566:Slitrk6 UTSW 14 110,987,704 (GRCm39) missense probably benign 0.00
R4231:Slitrk6 UTSW 14 110,988,820 (GRCm39) missense probably benign 0.02
R4236:Slitrk6 UTSW 14 110,987,580 (GRCm39) missense probably benign 0.07
R4247:Slitrk6 UTSW 14 110,988,171 (GRCm39) missense probably damaging 1.00
R4576:Slitrk6 UTSW 14 110,987,602 (GRCm39) missense probably benign 0.05
R4856:Slitrk6 UTSW 14 110,989,315 (GRCm39) missense probably damaging 1.00
R4858:Slitrk6 UTSW 14 110,989,315 (GRCm39) missense probably damaging 1.00
R4859:Slitrk6 UTSW 14 110,989,315 (GRCm39) missense probably damaging 1.00
R4860:Slitrk6 UTSW 14 110,989,315 (GRCm39) missense probably damaging 1.00
R4860:Slitrk6 UTSW 14 110,989,315 (GRCm39) missense probably damaging 1.00
R4886:Slitrk6 UTSW 14 110,989,315 (GRCm39) missense probably damaging 1.00
R4931:Slitrk6 UTSW 14 110,987,811 (GRCm39) missense probably damaging 1.00
R5255:Slitrk6 UTSW 14 110,987,185 (GRCm39) makesense probably null
R5281:Slitrk6 UTSW 14 110,987,805 (GRCm39) missense probably damaging 1.00
R5450:Slitrk6 UTSW 14 110,987,529 (GRCm39) missense probably benign
R5579:Slitrk6 UTSW 14 110,988,649 (GRCm39) missense possibly damaging 0.82
R5689:Slitrk6 UTSW 14 110,989,558 (GRCm39) missense probably benign
R5935:Slitrk6 UTSW 14 110,987,305 (GRCm39) missense probably benign 0.00
R6016:Slitrk6 UTSW 14 110,987,958 (GRCm39) missense probably benign 0.00
R6312:Slitrk6 UTSW 14 110,987,679 (GRCm39) missense probably benign 0.00
R6890:Slitrk6 UTSW 14 110,988,528 (GRCm39) nonsense probably null
R6952:Slitrk6 UTSW 14 110,987,974 (GRCm39) missense probably benign
R7378:Slitrk6 UTSW 14 110,987,295 (GRCm39) missense probably damaging 1.00
R8354:Slitrk6 UTSW 14 110,989,478 (GRCm39) missense probably damaging 1.00
R8401:Slitrk6 UTSW 14 110,989,453 (GRCm39) missense possibly damaging 0.67
R8454:Slitrk6 UTSW 14 110,989,478 (GRCm39) missense probably damaging 1.00
R8807:Slitrk6 UTSW 14 110,988,123 (GRCm39) missense possibly damaging 0.77
R8814:Slitrk6 UTSW 14 110,987,370 (GRCm39) missense probably benign
R8826:Slitrk6 UTSW 14 110,988,801 (GRCm39) missense probably benign
R9681:Slitrk6 UTSW 14 110,988,258 (GRCm39) missense probably damaging 1.00
R9740:Slitrk6 UTSW 14 110,987,444 (GRCm39) missense probably benign 0.13
R9740:Slitrk6 UTSW 14 110,987,430 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCAATACTACGTACTCCTTGCAACAG -3'
(R):5'- GGGAACTTCAGCAACTTGGCATCAC -3'

Sequencing Primer
(F):5'- GAACAGGCTATATTGCCTGATG -3'
(R):5'- TTGGCATCACAGAGTACCTAAG -3'
Posted On 2013-07-30