Incidental Mutation 'IGL01941:Slitrk3'
ID181170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk3
Ensembl Gene ENSMUSG00000048304
Gene NameSLIT and NTRK-like family, member 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.807) question?
Stock #IGL01941
Quality Score
Status
Chromosome3
Chromosomal Location73047265-73057803 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73051071 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 123 (N123D)
Ref Sequence ENSEMBL: ENSMUSP00000141236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059407] [ENSMUST00000192477]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059407
AA Change: N123D

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000088561
Gene: ENSMUSG00000048304
AA Change: N123D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Blast:LRRNT 44 79 3e-11 BLAST
LRR 101 124 2.08e1 SMART
LRR 125 148 6.05e0 SMART
LRR 149 172 3.97e0 SMART
LRR_TYP 173 196 1.67e-2 SMART
LRR 197 220 2.69e2 SMART
LRRCT 233 283 4.56e-5 SMART
low complexity region 332 350 N/A INTRINSIC
LRRNT 373 411 4.17e0 SMART
LRR 432 455 1.62e0 SMART
LRR_TYP 456 479 2.61e-4 SMART
LRR 480 503 2.82e0 SMART
LRR_TYP 504 527 6.99e-5 SMART
LRRCT 563 613 3.22e-5 SMART
transmembrane domain 658 680 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
low complexity region 836 843 N/A INTRINSIC
low complexity region 846 858 N/A INTRINSIC
low complexity region 870 888 N/A INTRINSIC
Blast:LRRCT 906 943 2e-16 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000192477
AA Change: N123D

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141236
Gene: ENSMUSG00000048304
AA Change: N123D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Blast:LRRNT 44 79 3e-11 BLAST
LRR 101 124 2.08e1 SMART
LRR 125 148 6.05e0 SMART
LRR 149 172 3.97e0 SMART
LRR_TYP 173 196 1.67e-2 SMART
LRR 197 220 2.69e2 SMART
LRRCT 233 283 4.56e-5 SMART
low complexity region 332 350 N/A INTRINSIC
LRRNT 373 411 4.17e0 SMART
LRR 432 455 1.62e0 SMART
LRR_TYP 456 479 2.61e-4 SMART
LRR 480 503 2.82e0 SMART
LRR_TYP 504 527 6.99e-5 SMART
LRRCT 563 613 3.22e-5 SMART
transmembrane domain 658 680 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
low complexity region 836 843 N/A INTRINSIC
low complexity region 846 858 N/A INTRINSIC
low complexity region 870 888 N/A INTRINSIC
Blast:LRRCT 906 943 2e-16 BLAST
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 family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out mice exhibit reduced inhibitory synapse density, decreased miniature inhibitory postsynaptic current frequency and increased susceptibility to spontaneous and pharmacologically-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,044,801 L123Q probably benign Het
Abca2 C T 2: 25,443,095 S1602F probably benign Het
Abcc9 C A 6: 142,605,904 C1191F probably damaging Het
Adam3 G T 8: 24,681,446 probably benign Het
Aldh1l1 G T 6: 90,562,695 G202V probably damaging Het
Ankrd46 T C 15: 36,485,937 N57D possibly damaging Het
Asic1 A T 15: 99,699,101 H548L possibly damaging Het
Atpaf2 A G 11: 60,403,898 I233T probably benign Het
Ccdc129 A G 6: 55,968,045 R584G probably benign Het
Ccdc185 G T 1: 182,748,204 Q307K probably benign Het
Cep120 T C 18: 53,723,148 D399G probably benign Het
Cnn2 G A 10: 79,992,554 V122M probably benign Het
Dgkd T C 1: 87,924,559 S472P probably damaging Het
Dock5 A C 14: 67,812,232 I701S probably damaging Het
Efl1 A G 7: 82,697,976 E570G probably benign Het
Eln G A 5: 134,718,170 probably benign Het
Fat2 A G 11: 55,312,005 V81A probably benign Het
Fbxw21 T G 9: 109,148,156 I162L probably benign Het
Fhl2 G A 1: 43,131,672 Q161* probably null Het
Gabrg2 A G 11: 41,971,721 Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm7714 A G 5: 88,282,442 S66G probably benign Het
Grik5 A T 7: 25,065,182 I152N probably damaging Het
H2-Ab1 A T 17: 34,267,434 K156* probably null Het
Hecw1 T C 13: 14,316,310 Y699C probably benign Het
Ipo9 A C 1: 135,408,073 V202G possibly damaging Het
Jmjd6 A T 11: 116,841,358 probably null Het
Lama5 A G 2: 180,192,392 I1416T possibly damaging Het
Matn1 T C 4: 130,952,261 probably benign Het
Mavs T C 2: 131,246,605 V443A probably damaging Het
Mpdz A T 4: 81,286,387 S1798R possibly damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Olfr1251 A T 2: 89,667,468 C139* probably null Het
Otud7b G T 3: 96,155,459 G672C probably benign Het
Palld T A 8: 61,535,700 T572S probably benign Het
Pde6b T A 5: 108,423,036 V379E probably benign Het
Peak1 A G 9: 56,258,775 V623A probably damaging Het
Prr12 C T 7: 45,048,659 probably benign Het
Rxra T C 2: 27,754,241 I315T probably damaging Het
Slc11a1 C T 1: 74,377,179 A55V probably damaging Het
Spcs1 A G 14: 31,000,872 M82T probably damaging Het
Sspo A G 6: 48,495,182 E113G probably benign Het
Syne2 A G 12: 75,967,220 K3062E probably benign Het
Traf3ip2 T C 10: 39,634,660 S310P probably benign Het
Ubp1 T C 9: 113,956,758 L167S probably damaging Het
Vmn1r196 T A 13: 22,293,699 C169* probably null Het
Vmn1r223 T A 13: 23,250,237 F334I possibly damaging Het
Vmn2r10 A T 5: 108,995,954 I710N probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr26 A G 1: 181,211,070 probably benign Het
Wnt7a A G 6: 91,394,663 F106L probably benign Het
Zfp940 C T 7: 29,846,870 V34M probably damaging Het
Other mutations in Slitrk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Slitrk3 APN 3 73051103 missense probably damaging 1.00
IGL00857:Slitrk3 APN 3 73049841 missense probably damaging 1.00
IGL00990:Slitrk3 APN 3 73050081 missense probably damaging 1.00
IGL01010:Slitrk3 APN 3 73049273 missense probably benign 0.14
IGL01299:Slitrk3 APN 3 73049016 missense probably benign 0.43
IGL01609:Slitrk3 APN 3 73050237 missense probably damaging 1.00
IGL01881:Slitrk3 APN 3 73049306 missense probably benign 0.00
IGL02183:Slitrk3 APN 3 73049979 missense probably damaging 0.97
IGL02187:Slitrk3 APN 3 73050272 missense probably damaging 1.00
IGL02478:Slitrk3 APN 3 73050713 missense probably damaging 0.96
IGL02512:Slitrk3 APN 3 73050402 missense probably benign 0.28
IGL02720:Slitrk3 APN 3 73050768 missense probably damaging 1.00
IGL03113:Slitrk3 APN 3 73050390 missense probably benign 0.00
IGL03224:Slitrk3 APN 3 73049930 missense possibly damaging 0.72
wee UTSW 3 73050785 missense probably damaging 1.00
R0233:Slitrk3 UTSW 3 73048577 missense probably benign 0.00
R0233:Slitrk3 UTSW 3 73048577 missense probably benign 0.00
R0639:Slitrk3 UTSW 3 73049649 missense probably benign 0.02
R1448:Slitrk3 UTSW 3 73050341 missense probably damaging 0.99
R1656:Slitrk3 UTSW 3 73050339 missense probably damaging 0.98
R1713:Slitrk3 UTSW 3 73049691 missense probably benign 0.00
R1992:Slitrk3 UTSW 3 73049771 missense possibly damaging 0.80
R1999:Slitrk3 UTSW 3 73049964 missense probably benign 0.13
R2359:Slitrk3 UTSW 3 73049345 missense possibly damaging 0.56
R3083:Slitrk3 UTSW 3 73048595 missense probably benign 0.00
R3153:Slitrk3 UTSW 3 73048982 nonsense probably null
R3821:Slitrk3 UTSW 3 73049216 missense possibly damaging 0.94
R4208:Slitrk3 UTSW 3 73051157 missense possibly damaging 0.67
R4323:Slitrk3 UTSW 3 73050785 missense probably damaging 1.00
R4580:Slitrk3 UTSW 3 73051206 missense probably damaging 0.96
R4730:Slitrk3 UTSW 3 73049519 missense probably benign 0.08
R4742:Slitrk3 UTSW 3 73048565 missense probably benign 0.00
R4979:Slitrk3 UTSW 3 73049796 missense possibly damaging 0.95
R5018:Slitrk3 UTSW 3 73050512 missense probably benign 0.31
R5023:Slitrk3 UTSW 3 73050648 missense probably benign 0.24
R5057:Slitrk3 UTSW 3 73050648 missense probably benign 0.24
R5156:Slitrk3 UTSW 3 73049259 missense probably benign
R5500:Slitrk3 UTSW 3 73050347 missense probably damaging 1.00
R5582:Slitrk3 UTSW 3 73050404 missense probably benign 0.09
R5797:Slitrk3 UTSW 3 73048629 missense probably damaging 0.99
R5963:Slitrk3 UTSW 3 73050713 missense probably benign 0.30
R5985:Slitrk3 UTSW 3 73050900 missense probably damaging 1.00
R6123:Slitrk3 UTSW 3 73049762 missense probably damaging 1.00
R6393:Slitrk3 UTSW 3 73049914 missense possibly damaging 0.79
R6529:Slitrk3 UTSW 3 73051218 missense probably benign 0.02
R6584:Slitrk3 UTSW 3 73049225 missense probably damaging 0.99
R6645:Slitrk3 UTSW 3 73049861 missense probably benign 0.13
R7001:Slitrk3 UTSW 3 73050609 nonsense probably null
R7282:Slitrk3 UTSW 3 73050465 missense possibly damaging 0.70
X0022:Slitrk3 UTSW 3 73050266 missense probably damaging 1.00
Posted On2014-05-07