Incidental Mutation 'IGL00863:Slitrk1'
ID 14141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk1
Ensembl Gene ENSMUSG00000075478
Gene Name SLIT and NTRK-like family, member 1
Synonyms 3200001I04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00863
Quality Score
Status
Chromosome 14
Chromosomal Location 109147420-109151671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109149269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 481 (N481Y)
Ref Sequence ENSEMBL: ENSMUSP00000097897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100322]
AlphaFold Q810C1
Predicted Effect probably damaging
Transcript: ENSMUST00000100322
AA Change: N481Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: N481Y

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsn A G 9: 107,992,521 (GRCm39) I1077T probably damaging Het
Car8 A G 4: 8,183,251 (GRCm39) probably null Het
Ccdc192 A T 18: 57,727,158 (GRCm39) E136V probably damaging Het
Ccny A T 18: 9,345,444 (GRCm39) D143E probably benign Het
Cdh19 A G 1: 110,876,874 (GRCm39) V155A probably damaging Het
Cript T A 17: 87,335,151 (GRCm39) I14N probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyria A T 12: 12,409,235 (GRCm39) I72F probably benign Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fbln5 A G 12: 101,776,175 (GRCm39) V60A probably damaging Het
Fbn1 T A 2: 125,245,139 (GRCm39) E249D possibly damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Grik2 A G 10: 49,232,024 (GRCm39) V502A possibly damaging Het
Heatr1 T C 13: 12,450,009 (GRCm39) V2001A probably benign Het
Il4i1 T A 7: 44,487,470 (GRCm39) Y148* probably null Het
Jmjd4 T C 11: 59,341,569 (GRCm39) S113P probably benign Het
Nceh1 C T 3: 27,295,462 (GRCm39) P241L probably damaging Het
Pals1 A G 12: 78,856,595 (GRCm39) D146G probably damaging Het
Pcdh10 T A 3: 45,334,737 (GRCm39) D350E probably damaging Het
Pdgfrl A G 8: 41,438,571 (GRCm39) E169G probably damaging Het
Ppm1l T A 3: 69,225,283 (GRCm39) D128E probably damaging Het
Rasa1 A G 13: 85,436,548 (GRCm39) V160A probably benign Het
Serf2 T C 2: 121,288,184 (GRCm39) probably null Het
Tas2r139 T G 6: 42,118,055 (GRCm39) S62R probably damaging Het
Tdpoz4 A T 3: 93,704,380 (GRCm39) T226S probably benign Het
Tvp23b C A 11: 62,774,464 (GRCm39) A36E probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Other mutations in Slitrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Slitrk1 APN 14 109,149,241 (GRCm39) missense probably damaging 0.98
IGL01556:Slitrk1 APN 14 109,150,450 (GRCm39) missense probably damaging 1.00
IGL01924:Slitrk1 APN 14 109,148,671 (GRCm39) missense probably benign 0.08
IGL02389:Slitrk1 APN 14 109,149,754 (GRCm39) missense probably benign
IGL02619:Slitrk1 APN 14 109,149,349 (GRCm39) missense probably benign 0.09
IGL02828:Slitrk1 APN 14 109,149,048 (GRCm39) missense possibly damaging 0.63
R0070:Slitrk1 UTSW 14 109,150,749 (GRCm39) start gained probably benign
R0135:Slitrk1 UTSW 14 109,149,061 (GRCm39) missense probably benign 0.00
R0627:Slitrk1 UTSW 14 109,149,671 (GRCm39) missense probably damaging 1.00
R1529:Slitrk1 UTSW 14 109,150,709 (GRCm39) start codon destroyed probably benign 0.33
R1661:Slitrk1 UTSW 14 109,149,359 (GRCm39) missense probably damaging 1.00
R1711:Slitrk1 UTSW 14 109,150,528 (GRCm39) missense probably benign 0.21
R1960:Slitrk1 UTSW 14 109,149,622 (GRCm39) missense probably damaging 0.96
R1961:Slitrk1 UTSW 14 109,149,622 (GRCm39) missense probably damaging 0.96
R4247:Slitrk1 UTSW 14 109,149,994 (GRCm39) missense possibly damaging 0.95
R4394:Slitrk1 UTSW 14 109,148,735 (GRCm39) missense probably benign 0.01
R5027:Slitrk1 UTSW 14 109,149,740 (GRCm39) missense probably benign
R5241:Slitrk1 UTSW 14 109,150,444 (GRCm39) missense probably benign 0.27
R5599:Slitrk1 UTSW 14 109,149,244 (GRCm39) missense probably benign 0.00
R5835:Slitrk1 UTSW 14 109,149,004 (GRCm39) missense possibly damaging 0.94
R6224:Slitrk1 UTSW 14 109,149,454 (GRCm39) missense probably damaging 1.00
R6489:Slitrk1 UTSW 14 109,148,735 (GRCm39) missense possibly damaging 0.63
R6504:Slitrk1 UTSW 14 109,149,129 (GRCm39) missense probably benign 0.14
R7102:Slitrk1 UTSW 14 109,150,061 (GRCm39) missense probably benign 0.01
R7346:Slitrk1 UTSW 14 109,150,591 (GRCm39) missense possibly damaging 0.89
R7413:Slitrk1 UTSW 14 109,149,357 (GRCm39) nonsense probably null
R8005:Slitrk1 UTSW 14 109,150,697 (GRCm39) missense probably benign 0.30
R8258:Slitrk1 UTSW 14 109,148,653 (GRCm39) missense probably benign 0.05
R8259:Slitrk1 UTSW 14 109,148,653 (GRCm39) missense probably benign 0.05
R8906:Slitrk1 UTSW 14 109,149,139 (GRCm39) missense probably damaging 0.99
R9136:Slitrk1 UTSW 14 109,148,981 (GRCm39) missense
R9150:Slitrk1 UTSW 14 109,149,101 (GRCm39) missense possibly damaging 0.94
Posted On 2012-12-06