Incidental Mutation 'R9136:Slitrk1'
ID 694048
Institutional Source Beutler Lab
Gene Symbol Slitrk1
Ensembl Gene ENSMUSG00000075478
Gene Name SLIT and NTRK-like family, member 1
Synonyms 3200001I04Rik
MMRRC Submission 068931-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9136 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 109147420-109151671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109148981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 577 (I577V)
Ref Sequence ENSEMBL: ENSMUSP00000097897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100322]
AlphaFold Q810C1
Predicted Effect
SMART Domains Protein: ENSMUSP00000097897
Gene: ENSMUSG00000075478
AA Change: I577V

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
Meta Mutation Damage Score 0.1195 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,596,807 (GRCm39) Q420R probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Acsl5 A T 19: 55,266,400 (GRCm39) K109N probably benign Het
Agpat3 T C 10: 78,120,893 (GRCm39) N95S probably damaging Het
Akna C T 4: 63,310,392 (GRCm39) D451N probably damaging Het
Ankrd17 A T 5: 90,392,278 (GRCm39) D1797E probably damaging Het
Ano2 A G 6: 125,959,962 (GRCm39) N691S probably damaging Het
Arrdc1 A T 2: 24,817,193 (GRCm39) probably benign Het
Ccdc63 G A 5: 122,259,146 (GRCm39) R251W probably damaging Het
Cd70 T C 17: 57,453,152 (GRCm39) T171A possibly damaging Het
Cenpf A T 1: 189,403,352 (GRCm39) S382T probably benign Het
Cox5b-ps A C 13: 21,685,587 (GRCm39) M1R probably null Het
Ddx19b G T 8: 111,734,906 (GRCm39) D487E probably benign Het
Dlgap4 G A 2: 156,588,075 (GRCm39) E640K possibly damaging Het
Dtnbp1 A T 13: 45,084,546 (GRCm39) F198Y possibly damaging Het
Epha10 T C 4: 124,796,427 (GRCm39) Y379H Het
Eral1 A G 11: 77,964,960 (GRCm39) I411T Het
Exd1 C T 2: 119,359,385 (GRCm39) G193E probably damaging Het
Fat3 C A 9: 15,833,738 (GRCm39) A105S Het
Fbp2 C T 13: 63,002,840 (GRCm39) V71M possibly damaging Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Grm5 G A 7: 87,689,254 (GRCm39) V542I possibly damaging Het
Hdc C T 2: 126,439,786 (GRCm39) probably null Het
Hspe1 G T 1: 55,128,314 (GRCm39) K36N probably damaging Het
Hypk T A 2: 121,287,636 (GRCm39) L17* probably null Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Immt C T 6: 71,851,403 (GRCm39) T588I probably damaging Het
Kat2b T A 17: 53,936,364 (GRCm39) S179T probably benign Het
Krtap19-5 C T 16: 88,693,246 (GRCm39) G22D unknown Het
Lipk A G 19: 33,999,830 (GRCm39) D153G probably damaging Het
Lnpep A G 17: 17,750,090 (GRCm39) V1000A probably benign Het
Map3k7cl T C 16: 87,391,227 (GRCm39) L117P probably damaging Het
Meikin A G 11: 54,285,464 (GRCm39) E167G possibly damaging Het
Miox A G 15: 89,220,740 (GRCm39) Y215C probably damaging Het
Mthfd1 T G 12: 76,350,649 (GRCm39) M677R probably damaging Het
Ncoa7 G A 10: 30,567,628 (GRCm39) S350L probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nrg3 A T 14: 38,119,262 (GRCm39) N403K possibly damaging Het
Nup210 T C 6: 91,020,830 (GRCm39) T955A possibly damaging Het
Odf2l C A 3: 144,851,698 (GRCm39) T82K Het
Or10ag56 A G 2: 87,139,219 (GRCm39) I49V possibly damaging Het
Or1m1 T C 9: 18,666,175 (GRCm39) Y252C probably damaging Het
Or4c108 T A 2: 88,804,113 (GRCm39) M41L probably benign Het
Or8w1 A G 2: 87,465,341 (GRCm39) V250A probably benign Het
Otud7b T A 3: 96,059,815 (GRCm39) probably benign Het
Pcm1 C T 8: 41,732,825 (GRCm39) S694L probably benign Het
Pex11b T C 3: 96,551,259 (GRCm39) L248P probably damaging Het
Pira13 A T 7: 3,826,285 (GRCm39) I236N Het
Ppp3cb T C 14: 20,581,867 (GRCm39) I49M probably benign Het
Prorp C T 12: 55,350,727 (GRCm39) P12L probably benign Het
Prr14l A C 5: 32,986,080 (GRCm39) C1138W Het
Prss1 T G 6: 41,438,280 (GRCm39) probably benign Het
Psg22 T A 7: 18,460,811 (GRCm39) I480K probably damaging Het
Rgs21 A C 1: 144,412,653 (GRCm39) F57C Het
Rngtt T A 4: 33,404,218 (GRCm39) D468E probably damaging Het
Rorb A T 19: 18,934,686 (GRCm39) V313E probably damaging Het
Sdk2 A G 11: 113,697,203 (GRCm39) F1736S probably damaging Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Sos2 C A 12: 69,633,446 (GRCm39) E1143D possibly damaging Het
Spen T C 4: 141,249,623 (GRCm39) D55G unknown Het
Stoml1 C A 9: 58,168,236 (GRCm39) Q316K possibly damaging Het
Synpo2l C T 14: 20,715,857 (GRCm39) A243T probably damaging Het
Tenm4 A T 7: 96,473,125 (GRCm39) I974F possibly damaging Het
Trp53bp1 T A 2: 121,067,092 (GRCm39) I545F possibly damaging Het
Unc13a T C 8: 72,104,994 (GRCm39) D756G possibly damaging Het
Uqcrc1 A G 9: 108,776,973 (GRCm39) N393D possibly damaging Het
Vcl T A 14: 21,057,344 (GRCm39) D505E probably benign Het
Vwf A T 6: 125,576,356 (GRCm39) probably benign Het
Wdr11 A G 7: 129,204,816 (GRCm39) H207R Het
Zc3h7b A G 15: 81,653,312 (GRCm39) D72G probably damaging Het
Zfp507 A T 7: 35,475,883 (GRCm39) D813E probably damaging Het
Zfp704 T C 3: 9,509,324 (GRCm39) S374G probably benign Het
Zfp97 G A 17: 17,365,215 (GRCm39) C238Y probably benign Het
Other mutations in Slitrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Slitrk1 APN 14 109,149,269 (GRCm39) missense probably damaging 1.00
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
R9150:Slitrk1 UTSW 14 109,149,101 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GGAATTGGCATCCCTTCTCTTG -3'
(R):5'- TCCATCATCCAGATAGACCTGC -3'

Sequencing Primer
(F):5'- TTCGGTTCCTCAGGATAAACACGAG -3'
(R):5'- TCCAGATAGACCTGCATGGC -3'
Posted On 2022-01-20