Incidental Mutation 'IGL02389:Slitrk1'
ID291686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk1
Ensembl Gene ENSMUSG00000075478
Gene NameSLIT and NTRK-like family, member 1
Synonyms3200001I04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02389
Quality Score
Status
Chromosome14
Chromosomal Location108908800-108914158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108912322 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 319 (I319T)
Ref Sequence ENSEMBL: ENSMUSP00000097897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100322]
Predicted Effect probably benign
Transcript: ENSMUST00000100322
AA Change: I319T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: I319T

DomainStartEndE-ValueType
LRR 81 104 1.37e2 SMART
LRR 105 128 1.37e1 SMART
LRR 129 152 4.57e0 SMART
LRR_TYP 153 176 2.75e-3 SMART
LRR 180 200 1.92e2 SMART
LRRCT 212 262 3.45e-5 SMART
LRRNT 340 376 4.28e0 SMART
LRR 374 397 1.86e1 SMART
LRR 398 421 1.49e1 SMART
LRR 422 445 2.68e1 SMART
LRR 446 469 4.98e-1 SMART
LRR_TYP 470 493 6.52e-5 SMART
LRR 494 517 3.46e2 SMART
LRRCT 529 579 3.91e-4 SMART
transmembrane domain 621 643 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. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display hypoactivity, reduced male body weight, elevated anxiety- and depression-like behavior, increased norepinephrine content in brain, and partial postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 63,896,483 S11N probably null Het
Aqp9 T C 9: 71,122,906 I200V possibly damaging Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd3 A G 15: 73,567,056 D1091G probably damaging Het
Dock2 T C 11: 34,698,740 probably benign Het
Dscam T A 16: 96,640,897 I1577F probably benign Het
Egflam A T 15: 7,250,078 N482K probably benign Het
Fam216a T C 5: 122,367,511 T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 M325V probably benign Het
Fbxw8 C T 5: 118,128,955 V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 R57C probably damaging Het
Gnpnat1 A G 14: 45,380,931 probably null Het
Gria2 T C 3: 80,709,422 T408A probably benign Het
H2-T3 A G 17: 36,186,608 M59T probably benign Het
Jakmip1 C T 5: 37,100,843 Q278* probably null Het
Krtap21-1 C T 16: 89,403,424 G110D unknown Het
Myo7a C T 7: 98,106,991 probably null Het
Nlrp9c T A 7: 26,394,207 Q11L probably benign Het
Olfr1442 A T 19: 12,674,535 D110V probably benign Het
Olfr298 A G 7: 86,489,128 L141P probably damaging Het
Olfr767 A C 10: 129,079,230 I244M probably damaging Het
Olfr790 T A 10: 129,501,070 M62K probably benign Het
Pdzd8 A G 19: 59,301,393 I525T probably benign Het
Pign A T 1: 105,646,781 L280* probably null Het
Pik3r4 T G 9: 105,650,331 I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 Q471* probably null Het
Prrc2c A G 1: 162,692,870 F2006L probably damaging Het
Ptger3 C T 3: 157,567,171 R52C probably damaging Het
Rfx2 T C 17: 56,808,325 probably benign Het
Sh3bp4 T C 1: 89,145,148 F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 probably benign Het
Slc26a8 T A 17: 28,638,650 I840F probably benign Het
Slc5a4b A T 10: 76,072,465 Y364* probably null Het
Stxbp5l C T 16: 37,208,205 A499T probably benign Het
Tnks2 T A 19: 36,884,103 S951R probably benign Het
Trim30c A G 7: 104,382,174 F478S probably benign Het
Tyro3 C T 2: 119,804,864 probably benign Het
Vmn1r34 A T 6: 66,637,058 L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 C215S probably damaging Het
Zzef1 T A 11: 72,899,538 V2106D possibly damaging Het
Zzef1 C T 11: 72,891,217 P1995S probably benign Het
Other mutations in Slitrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Slitrk1 APN 14 108911837 missense probably damaging 1.00
IGL00949:Slitrk1 APN 14 108911809 missense probably damaging 0.98
IGL01556:Slitrk1 APN 14 108913018 missense probably damaging 1.00
IGL01924:Slitrk1 APN 14 108911239 missense probably benign 0.08
IGL02619:Slitrk1 APN 14 108911917 missense probably benign 0.09
IGL02828:Slitrk1 APN 14 108911616 missense possibly damaging 0.63
R0070:Slitrk1 UTSW 14 108913317 start gained probably benign
R0135:Slitrk1 UTSW 14 108911629 missense probably benign 0.00
R0627:Slitrk1 UTSW 14 108912239 missense probably damaging 1.00
R1529:Slitrk1 UTSW 14 108913277 start codon destroyed probably benign 0.33
R1661:Slitrk1 UTSW 14 108911927 missense probably damaging 1.00
R1711:Slitrk1 UTSW 14 108913096 missense probably benign 0.21
R1960:Slitrk1 UTSW 14 108912190 missense probably damaging 0.96
R1961:Slitrk1 UTSW 14 108912190 missense probably damaging 0.96
R4247:Slitrk1 UTSW 14 108912562 missense possibly damaging 0.95
R4394:Slitrk1 UTSW 14 108911303 missense probably benign 0.01
R5027:Slitrk1 UTSW 14 108912308 missense probably benign
R5241:Slitrk1 UTSW 14 108913012 missense probably benign 0.27
R5599:Slitrk1 UTSW 14 108911812 missense probably benign 0.00
R5835:Slitrk1 UTSW 14 108911572 missense possibly damaging 0.94
R6224:Slitrk1 UTSW 14 108912022 missense probably damaging 1.00
R6489:Slitrk1 UTSW 14 108911303 missense possibly damaging 0.63
R6504:Slitrk1 UTSW 14 108911697 missense probably benign 0.14
R7102:Slitrk1 UTSW 14 108912629 missense probably benign 0.01
R7346:Slitrk1 UTSW 14 108913159 missense possibly damaging 0.89
R7413:Slitrk1 UTSW 14 108911925 nonsense probably null
R8005:Slitrk1 UTSW 14 108913265 missense not run
Posted On2015-04-16