Incidental Mutation 'IGL02165:Slitrk6'
ID 282663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk6
Ensembl Gene ENSMUSG00000045871
Gene Name SLIT and NTRK-like family, member 6
Synonyms 4832410J21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL02165
Quality Score
Status
Chromosome 14
Chromosomal Location 110986012-110992581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110989249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 153 (P153S)
Ref Sequence ENSEMBL: ENSMUSP00000077492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078386]
AlphaFold Q8C110
Predicted Effect probably benign
Transcript: ENSMUST00000078386
AA Change: P153S

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077492
Gene: ENSMUSG00000045871
AA Change: P153S

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,904,586 (GRCm39) M199K possibly damaging Het
Abo C A 2: 26,733,441 (GRCm39) V255L probably damaging Het
Alas1 A T 9: 106,115,982 (GRCm39) M344K probably damaging Het
Ap1m1 A G 8: 73,003,653 (GRCm39) I118V probably benign Het
Ap5m1 A T 14: 49,316,185 (GRCm39) I252F possibly damaging Het
Arhgef2 G A 3: 88,553,527 (GRCm39) R886H probably damaging Het
Atp13a4 T C 16: 29,252,828 (GRCm39) E706G probably damaging Het
Baz2a C A 10: 127,955,218 (GRCm39) A775E probably benign Het
C3 A T 17: 57,532,092 (GRCm39) F210I probably benign Het
Casq1 A G 1: 172,040,948 (GRCm39) L280P probably damaging Het
Cebpz A G 17: 79,229,598 (GRCm39) F919L probably damaging Het
Commd1b A T 11: 22,932,072 (GRCm39) probably benign Het
Dclre1c T A 2: 3,451,418 (GRCm39) probably benign Het
Dsc3 T G 18: 20,116,709 (GRCm39) M276L probably benign Het
Dync2i2 T C 2: 29,922,172 (GRCm39) T430A probably benign Het
Eftud2 A G 11: 102,742,573 (GRCm39) probably benign Het
Elfn2 T A 15: 78,557,618 (GRCm39) T310S probably benign Het
Ep300 A G 15: 81,525,592 (GRCm39) K1472R probably benign Het
Fbxl2 T C 9: 113,847,099 (GRCm39) D8G probably benign Het
Galnt5 T A 2: 57,888,877 (GRCm39) M159K probably benign Het
Hars2 T A 18: 36,916,447 (GRCm39) M1K probably null Het
Hk1 T C 10: 62,117,667 (GRCm39) T619A probably damaging Het
Ifi44 C T 3: 151,455,067 (GRCm39) V53M probably damaging Het
Ippk T A 13: 49,600,011 (GRCm39) V339D possibly damaging Het
Kcnma1 G T 14: 23,387,035 (GRCm39) N875K possibly damaging Het
Kdm5a T A 6: 120,392,251 (GRCm39) V991E probably damaging Het
Larp6 A G 9: 60,620,595 (GRCm39) E36G probably benign Het
Lonp2 A T 8: 87,435,654 (GRCm39) D210V probably damaging Het
Lrrc4c G A 2: 97,459,378 (GRCm39) M1I probably null Het
Mmp2 A G 8: 93,559,847 (GRCm39) K270R probably null Het
Nexmif C T X: 103,128,360 (GRCm39) V1186I probably benign Het
Or11g2 A G 14: 50,856,468 (GRCm39) Y263C probably damaging Het
Or1x2 A T 11: 50,918,470 (GRCm39) I214F probably benign Het
Pld2 T C 11: 70,446,503 (GRCm39) L763P probably damaging Het
Pold1 A T 7: 44,187,484 (GRCm39) F644L probably damaging Het
Prrc2b T C 2: 32,104,652 (GRCm39) S1377P probably damaging Het
Rps18-ps6 T G 13: 97,896,648 (GRCm39) K150T probably benign Het
Rttn A G 18: 89,061,165 (GRCm39) D1111G probably benign Het
Slc27a5 A G 7: 12,728,875 (GRCm39) V130A probably damaging Het
Slfn8 T C 11: 82,908,022 (GRCm39) R174G probably benign Het
Sorcs3 T C 19: 48,642,511 (GRCm39) I388T probably benign Het
Star A T 8: 26,302,843 (GRCm39) T262S possibly damaging Het
Strn A T 17: 78,995,049 (GRCm39) W2R probably damaging Het
Tnmd T C X: 132,763,701 (GRCm39) S172P probably damaging Het
Togaram2 A G 17: 72,004,861 (GRCm39) K305R probably benign Het
Trhde C A 10: 114,428,066 (GRCm39) W410L probably damaging Het
Trim5 C T 7: 103,928,566 (GRCm39) R125Q probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vmn1r80 T A 7: 11,927,379 (GRCm39) M163K probably benign Het
Wnk4 C A 11: 101,166,117 (GRCm39) probably benign Het
Zfp277 T A 12: 40,365,802 (GRCm39) I430F possibly damaging Het
Zfp566 A T 7: 29,777,255 (GRCm39) C309S probably damaging Het
Zfp740 T G 15: 102,121,109 (GRCm39) F141V possibly damaging Het
Zfp87 T A 13: 67,665,989 (GRCm39) I158F probably damaging Het
Zswim3 C A 2: 164,663,035 (GRCm39) A505D possibly 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
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
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
Posted On 2015-04-16