Incidental Mutation 'R5579:Slitrk6'
ID 438319
Institutional Source Beutler Lab
Gene Symbol Slitrk6
Ensembl Gene ENSMUSG00000045871
Gene Name SLIT and NTRK-like family, member 6
Synonyms 4832410J21Rik
MMRRC Submission 043267-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R5579 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 110986012-110992581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 110988649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 353 (S353R)
Ref Sequence ENSEMBL: ENSMUSP00000077492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078386]
AlphaFold Q8C110
Predicted Effect possibly damaging
Transcript: ENSMUST00000078386
AA Change: S353R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: S353R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
Validation Efficiency
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G T 17: 24,595,703 (GRCm39) C352F probably damaging Het
Abce1 A T 8: 80,427,215 (GRCm39) I237N possibly damaging Het
Acrbp A G 6: 125,038,062 (GRCm39) D421G probably benign Het
Adam8 T A 7: 139,568,897 (GRCm39) Y201F probably benign Het
Adgrf1 T A 17: 43,621,955 (GRCm39) C731S probably damaging Het
Akap8l A T 17: 32,540,916 (GRCm39) I529N probably damaging Het
Akap9 G A 5: 4,114,714 (GRCm39) G114D possibly damaging Het
Alox12b T A 11: 69,053,758 (GRCm39) D158E probably benign Het
Ankrd11 A G 8: 123,610,970 (GRCm39) S2639P probably damaging Het
Ankrd42 T C 7: 92,239,390 (GRCm39) Y466C possibly damaging Het
Apobr T C 7: 126,186,847 (GRCm39) I786T probably benign Het
Arhgef12 C T 9: 42,921,489 (GRCm39) G329R probably benign Het
Btnl1 T C 17: 34,600,526 (GRCm39) probably null Het
Ccdc174 A G 6: 91,858,331 (GRCm39) probably null Het
Ccdc183 T C 2: 25,505,434 (GRCm39) D177G possibly damaging Het
Cd14 A G 18: 36,859,288 (GRCm39) Y56H probably benign Het
Cep162 G A 9: 87,085,724 (GRCm39) A1200V probably benign Het
Clic3 T C 2: 25,348,319 (GRCm39) L128P probably damaging Het
Cntnap5b A T 1: 100,311,120 (GRCm39) R538* probably null Het
Cntnap5b A T 1: 100,311,124 (GRCm39) Q539L probably benign Het
Coq7 A T 7: 118,116,558 (GRCm39) N214K unknown Het
Cramp1 G A 17: 25,192,087 (GRCm39) H1018Y possibly damaging Het
Crtac1 T A 19: 42,293,245 (GRCm39) D288V probably damaging Het
Dab2ip C T 2: 35,605,339 (GRCm39) R132* probably null Het
Dis3l C A 9: 64,238,117 (GRCm39) C125F probably benign Het
Dnmt1 A T 9: 20,831,501 (GRCm39) V543D probably damaging Het
Dock9 A T 14: 121,837,107 (GRCm39) L67Q probably damaging Het
Ehbp1 A T 11: 22,087,846 (GRCm39) S413T probably damaging Het
Endov A G 11: 119,395,923 (GRCm39) I158V probably benign Het
Epb41l4b A G 4: 57,064,802 (GRCm39) V469A possibly damaging Het
Etf1 G A 18: 35,046,654 (GRCm39) P119S probably damaging Het
Fam135a A G 1: 24,068,808 (GRCm39) L491P possibly damaging Het
Fancd2 A T 6: 113,537,012 (GRCm39) probably null Het
Fank1 T A 7: 133,471,058 (GRCm39) probably null Het
Fbh1 A G 2: 11,753,804 (GRCm39) I846T probably damaging Het
Gas2l3 T C 10: 89,249,928 (GRCm39) T397A probably benign Het
Gga1 T C 15: 78,777,388 (GRCm39) V513A probably damaging Het
Ggt1 T C 10: 75,421,782 (GRCm39) V543A probably damaging Het
Gm11596 A T 11: 99,683,717 (GRCm39) C134* probably null Het
Gnal C T 18: 67,221,842 (GRCm39) R82C unknown Het
Hat1 T C 2: 71,240,582 (GRCm39) V92A possibly damaging Het
Icosl C T 10: 77,909,597 (GRCm39) R181C probably damaging Het
Ift46 A G 9: 44,698,160 (GRCm39) M208V possibly damaging Het
Ighv1-26 T C 12: 114,752,219 (GRCm39) K42E possibly damaging Het
Ipo5 A G 14: 121,176,025 (GRCm39) K617E probably benign Het
Irx5 A G 8: 93,086,541 (GRCm39) D208G probably benign Het
Itgal T G 7: 126,906,101 (GRCm39) V397G probably benign Het
Itpr2 G A 6: 146,074,864 (GRCm39) R2297* probably null Het
Itpr3 A G 17: 27,332,493 (GRCm39) D1779G probably damaging Het
Khdc4 T C 3: 88,607,582 (GRCm39) S345P probably benign Het
Krt4 T A 15: 101,829,669 (GRCm39) E286D probably benign Het
Loxl4 C T 19: 42,592,729 (GRCm39) G317E probably damaging Het
Mapk6 T G 9: 75,295,344 (GRCm39) H718P possibly damaging Het
Mark2 A C 19: 7,260,181 (GRCm39) V14G probably damaging Het
Mbd5 A G 2: 49,162,826 (GRCm39) T1103A possibly damaging Het
Mcph1 A G 8: 18,682,309 (GRCm39) E482G probably benign Het
Mme G A 3: 63,256,066 (GRCm39) E509K probably damaging Het
Mrgbp A G 2: 180,227,276 (GRCm39) T204A probably damaging Het
Mycbp2 A T 14: 103,528,769 (GRCm39) F430I probably damaging Het
Myo6 A G 9: 80,125,002 (GRCm39) D27G probably damaging Het
Ncoa6 A G 2: 155,248,597 (GRCm39) L1569S probably damaging Het
Ndc1 T A 4: 107,237,901 (GRCm39) F235Y possibly damaging Het
Nmur2 A T 11: 55,923,835 (GRCm39) S240T probably benign Het
Or14c44 T A 7: 86,061,934 (GRCm39) Y121* probably null Het
Or52ae7 G A 7: 103,120,121 (GRCm39) V292M probably damaging Het
Or5d46 A T 2: 88,170,757 (GRCm39) I283F possibly damaging Het
Osbpl1a G T 18: 12,974,249 (GRCm39) A62E probably damaging Het
Osbpl1a A C 18: 13,025,319 (GRCm39) S333A probably benign Het
Otud4 C T 8: 80,390,737 (GRCm39) T417I probably benign Het
Pagr1a T C 7: 126,614,614 (GRCm39) E197G probably damaging Het
Pcdh18 T C 3: 49,699,426 (GRCm39) Q1012R probably damaging Het
Pcdhgb5 A C 18: 37,864,690 (GRCm39) I162L probably benign Het
Pdpr T A 8: 111,850,448 (GRCm39) Y462N probably damaging Het
Pkhd1 A T 1: 20,593,366 (GRCm39) H1582Q probably damaging Het
Polr1b A G 2: 128,952,028 (GRCm39) K352R probably damaging Het
Poteg G A 8: 27,938,065 (GRCm39) V12M probably damaging Het
Pou2f1 A C 1: 165,742,731 (GRCm39) V54G probably damaging Het
Ppme1 A G 7: 99,994,182 (GRCm39) L177P probably damaging Het
Prkce A G 17: 86,927,376 (GRCm39) D550G probably damaging Het
Prrc2c A G 1: 162,508,327 (GRCm39) probably null Het
Ptpn22 A G 3: 103,789,455 (GRCm39) probably null Het
Rabif G A 1: 134,433,943 (GRCm39) V86M probably damaging Het
Rbm25 T A 12: 83,715,281 (GRCm39) M484K probably benign Het
Rcn2 G A 9: 55,964,713 (GRCm39) A224T probably benign Het
Rexo5 T A 7: 119,433,626 (GRCm39) probably null Het
Rnase1 A T 14: 51,383,219 (GRCm39) I45N probably benign Het
Rnmt T A 18: 68,439,186 (GRCm39) D98E possibly damaging Het
Rprd2 A G 3: 95,692,371 (GRCm39) F188L probably damaging Het
Scube2 G A 7: 109,409,944 (GRCm39) T643M probably damaging Het
Skic3 T C 13: 76,333,319 (GRCm39) W25R probably damaging Het
Slc7a15 T C 12: 8,589,344 (GRCm39) I68V probably benign Het
Slco1a5 A T 6: 142,187,851 (GRCm39) V496D possibly damaging Het
Smpd5 T A 15: 76,179,325 (GRCm39) I53K possibly damaging Het
Tas2r108 T C 6: 40,471,021 (GRCm39) S166P probably benign Het
Tcstv7a T A 13: 120,289,951 (GRCm39) M82L probably benign Het
Tecpr1 C A 5: 144,151,162 (GRCm39) V245L possibly damaging Het
Tenm3 G T 8: 48,689,799 (GRCm39) N1929K probably damaging Het
Tigd5 T G 15: 75,782,874 (GRCm39) F412C probably damaging Het
Timm17a A T 1: 135,233,926 (GRCm39) S74T possibly damaging Het
Tle1 A T 4: 72,058,045 (GRCm39) L60Q probably damaging Het
Tmem132d T C 5: 127,873,064 (GRCm39) E515G possibly damaging Het
Tmem65 T C 15: 58,666,246 (GRCm39) N115S probably benign Het
Trmt5 C A 12: 73,328,426 (GRCm39) R259L possibly damaging Het
Trmt9b T C 8: 36,979,195 (GRCm39) V266A probably benign Het
Vmn2r50 A T 7: 9,784,016 (GRCm39) W153R probably benign Het
Vwa3a T G 7: 120,367,396 (GRCm39) S184A probably benign Het
Zbtb25 A G 12: 76,395,938 (GRCm39) L428P possibly damaging Het
Zbtb49 C T 5: 38,358,160 (GRCm39) D698N probably damaging Het
Zbtb8os T G 4: 129,234,528 (GRCm39) D35E probably damaging Het
Zfp316 T C 5: 143,250,246 (GRCm39) T56A unknown Het
Zfp334 A T 2: 165,222,407 (GRCm39) C545* probably null Het
Zmiz1 C A 14: 25,645,280 (GRCm39) S247R probably damaging Het
Zscan18 A G 7: 12,509,308 (GRCm39) probably benign Het
Zzef1 T C 11: 72,791,463 (GRCm39) V2189A probably damaging 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
R0711:Slitrk6 UTSW 14 110,987,251 (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
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'- GGTCAGATGATTGCCATTGAG -3'
(R):5'- ACAAGTGACAGCCGCCTATC -3'

Sequencing Primer
(F):5'- CCATTGAGATAAAGCTTCTGGAGTCG -3'
(R):5'- GACAGCCGCCTATCAAGCAAG -3'
Posted On 2016-10-26