Incidental Mutation 'R5450:Slitrk6'
ID 429301
Institutional Source Beutler Lab
Gene Symbol Slitrk6
Ensembl Gene ENSMUSG00000045871
Gene Name SLIT and NTRK-like family, member 6
Synonyms 4832410J21Rik
MMRRC Submission 043015-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R5450 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 110986012-110992581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110987529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 726 (H726L)
Ref Sequence ENSEMBL: ENSMUSP00000077492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078386]
AlphaFold Q8C110
Predicted Effect probably benign
Transcript: ENSMUST00000078386
AA Change: H726L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: H726L

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 0.0675 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Arhgef4 T G 1: 34,846,405 (GRCm39) probably benign Het
Atg14 T C 14: 47,788,921 (GRCm39) N144S probably benign Het
Cacna1h A T 17: 25,602,160 (GRCm39) M1454K probably damaging Het
Catsperb A T 12: 101,412,327 (GRCm39) H138L possibly damaging Het
Cd200r2 T A 16: 44,729,934 (GRCm39) D159E probably benign Het
Cd79a G T 7: 24,598,687 (GRCm39) G79C probably damaging Het
Ceacam20 A G 7: 19,712,133 (GRCm39) H38R possibly damaging Het
Cers1 T C 8: 70,770,947 (GRCm39) L119P probably damaging Het
Ces1f C A 8: 93,992,423 (GRCm39) V343L probably benign Het
Ces3a G A 8: 105,784,550 (GRCm39) G511S possibly damaging Het
Cyfip2 A G 11: 46,175,079 (GRCm39) C98R probably benign Het
Cyp2j11 C A 4: 96,228,113 (GRCm39) V169L probably benign Het
Cyp4f17 A G 17: 32,747,860 (GRCm39) T523A probably benign Het
Ddx31 T C 2: 28,776,981 (GRCm39) S567P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dsg1b A C 18: 20,542,121 (GRCm39) H876P probably damaging Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Eno4 T C 19: 58,948,679 (GRCm39) F393S possibly damaging Het
Eral1 C T 11: 77,969,183 (GRCm39) D106N probably benign Het
Esp18 G T 17: 39,719,070 (GRCm39) R23M probably benign Het
Fam184b C T 5: 45,697,143 (GRCm39) V674I probably benign Het
Fbxw13 A C 9: 109,013,225 (GRCm39) N154K probably benign Het
Gtpbp6 A G 5: 110,254,991 (GRCm39) V130A probably damaging Het
Hc T C 2: 34,903,050 (GRCm39) D1067G possibly damaging Het
Ighg1 A T 12: 113,294,126 (GRCm39) S6T unknown Het
Ikzf3 C T 11: 98,357,912 (GRCm39) R475H probably damaging Het
Itprid1 T A 6: 55,945,796 (GRCm39) probably null Het
Kcmf1 A T 6: 72,819,913 (GRCm39) L311* probably null Het
Kmt2d C A 15: 98,752,967 (GRCm39) E184D probably damaging Het
Lrguk A T 6: 34,047,996 (GRCm39) I314F probably damaging Het
Maml2 A C 9: 13,617,763 (GRCm39) S370R probably damaging Het
Mroh1 C A 15: 76,316,547 (GRCm39) probably benign Het
Mx1 A T 16: 97,255,347 (GRCm39) Y235* probably null Het
Or4x6 A G 2: 89,949,013 (GRCm39) *310Q probably null Het
Pamr1 T G 2: 102,469,662 (GRCm39) Y403D probably damaging Het
Panx2 A G 15: 88,953,162 (GRCm39) E551G possibly damaging Het
Patl2 A G 2: 121,955,762 (GRCm39) V258A probably benign Het
Ppm1m A G 9: 106,074,041 (GRCm39) F255L probably benign Het
Prpf40a G T 2: 53,046,938 (GRCm39) T266N possibly damaging Het
Psg18 T A 7: 18,087,350 (GRCm39) I103F probably benign Het
Rpl39-ps A G 15: 102,543,583 (GRCm39) noncoding transcript Het
Rps6kb1 A T 11: 86,423,663 (GRCm39) F106I probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sardh G T 2: 27,129,710 (GRCm39) T245K possibly damaging Het
Shprh T G 10: 11,088,074 (GRCm39) I1619S possibly damaging Het
Skint1 G A 4: 111,882,729 (GRCm39) V258I probably benign Het
Slc27a5 T C 7: 12,728,869 (GRCm39) D331G probably benign Het
Slc29a2 A G 19: 5,079,303 (GRCm39) I309V probably benign Het
Slc30a5 C T 13: 100,957,680 (GRCm39) V130I possibly damaging Het
Slc4a3 C A 1: 75,529,300 (GRCm39) A531D probably damaging Het
Slc6a16 C T 7: 44,910,672 (GRCm39) T399I probably benign Het
Snx2 A G 18: 53,343,784 (GRCm39) K309R probably damaging Het
Speer4f2 T A 5: 17,578,217 (GRCm39) C4S possibly damaging Het
Sulf1 T C 1: 12,867,131 (GRCm39) V105A probably benign Het
Tcstv7a A T 13: 120,289,899 (GRCm39) V99E probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Vmn1r47 T C 6: 89,999,195 (GRCm39) L109P probably damaging Het
Vmn1r73 C A 7: 11,490,376 (GRCm39) Q65K possibly damaging Het
Vmn1r76 T C 7: 11,664,611 (GRCm39) Y166C probably damaging Het
Vmn2r2 T C 3: 64,034,011 (GRCm39) T504A probably benign Het
Wdr75 C A 1: 45,851,324 (GRCm39) A300E probably benign Het
Yars1 A G 4: 129,091,039 (GRCm39) E149G possibly damaging Het
Zbtb18 T C 1: 177,274,771 (GRCm39) F35L probably damaging Het
Zfp366 A G 13: 99,366,093 (GRCm39) Y418C 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
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'- AGTTAACCTCCACCTCTGGC -3'
(R):5'- CTTGCAGTACAGCATGTATGG -3'

Sequencing Primer
(F):5'- TCTGGCTGGAGCTGAGCAAG -3'
(R):5'- CAGTACAGCATGTATGGTCATAAAAC -3'
Posted On 2016-09-06