Incidental Mutation 'IGL02397:Slitrk4'
ID 291724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slitrk4
Ensembl Gene ENSMUSG00000046699
Gene Name SLIT and NTRK-like family, member 4
Synonyms D930039I09Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02397
Quality Score
Status
Chromosome X
Chromosomal Location 63308491-63320602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63316290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 126 (T126A)
Ref Sequence ENSEMBL: ENSMUSP00000110327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069926] [ENSMUST00000114679] [ENSMUST00000156121]
AlphaFold Q810B8
Predicted Effect probably damaging
Transcript: ENSMUST00000069926
AA Change: T126A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064443
Gene: ENSMUSG00000046699
AA Change: T126A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 22 38 N/A INTRINSIC
LRR 82 105 2.84e1 SMART
LRR_TYP 106 129 1.45e-2 SMART
LRR 130 153 2.33e1 SMART
LRR_TYP 154 177 1.38e-3 SMART
LRR 178 201 1.12e2 SMART
LRRCT 213 263 5.87e-8 SMART
LRRNT 341 378 1.76e0 SMART
LRR 400 423 1.57e1 SMART
LRR_TYP 424 447 2.79e-4 SMART
LRR_TYP 448 471 2.2e-2 SMART
LRR_TYP 472 495 8.02e-5 SMART
LRRCT 531 581 3.45e-5 SMART
transmembrane domain 621 643 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114679
AA Change: T126A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110327
Gene: ENSMUSG00000046699
AA Change: T126A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 22 38 N/A INTRINSIC
LRR 82 105 2.84e1 SMART
LRR_TYP 106 129 1.45e-2 SMART
LRR 130 153 2.33e1 SMART
LRR_TYP 154 177 1.38e-3 SMART
LRR 178 201 1.12e2 SMART
LRRCT 213 263 5.87e-8 SMART
LRRNT 341 378 1.76e0 SMART
LRR 400 423 1.57e1 SMART
LRR_TYP 424 447 2.79e-4 SMART
LRR_TYP 448 471 2.2e-2 SMART
LRR_TYP 472 495 8.02e-5 SMART
LRRCT 531 581 3.45e-5 SMART
transmembrane domain 621 643 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156121
SMART Domains Protein: ENSMUSP00000122648
Gene: ENSMUSG00000046699

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 22 38 N/A INTRINSIC
Pfam:LRR_8 59 110 6e-8 PFAM
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 transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,623,834 (GRCm39) N400S probably benign Het
Adam12 T A 7: 133,511,548 (GRCm39) probably benign Het
Adam5 T C 8: 25,234,149 (GRCm39) probably benign Het
Amn A T 12: 111,240,913 (GRCm39) Y139F possibly damaging Het
Ano10 C A 9: 122,090,458 (GRCm39) R285L probably damaging Het
Atad2b A G 12: 5,024,046 (GRCm39) Y57C probably damaging Het
Brd8 T C 18: 34,737,926 (GRCm39) K786R probably damaging Het
Cacna2d1 T C 5: 16,525,162 (GRCm39) probably benign Het
Card9 C T 2: 26,242,341 (GRCm39) D532N probably damaging Het
Cd22 T C 7: 30,577,050 (GRCm39) T86A probably benign Het
Cebpz A T 17: 79,230,690 (GRCm39) D842E possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 A G 1: 10,178,690 (GRCm39) N713S possibly damaging Het
Eml5 T C 12: 98,756,933 (GRCm39) T1899A probably benign Het
Fpgs T C 2: 32,575,801 (GRCm39) T381A probably damaging Het
Frmd7 G A X: 49,984,775 (GRCm39) T465I possibly damaging Het
Gm9837 A T 11: 53,360,987 (GRCm39) probably benign Het
Hectd3 C A 4: 116,860,333 (GRCm39) A816D possibly damaging Het
Itpripl2 A G 7: 118,089,519 (GRCm39) W347R probably damaging Het
Kcnc3 A G 7: 44,245,218 (GRCm39) T503A probably damaging Het
Mmadhc T C 2: 50,178,992 (GRCm39) E142G possibly damaging Het
Nabp2 T A 10: 128,244,192 (GRCm39) N138I possibly damaging Het
Obscn A G 11: 58,967,725 (GRCm39) V2902A possibly damaging Het
Rbm8a2 T C 1: 175,806,204 (GRCm39) D91G probably damaging Het
Samd3 A T 10: 26,109,474 (GRCm39) Y134F possibly damaging Het
Slc11a2 A G 15: 100,299,530 (GRCm39) F58S probably damaging Het
Sspo C A 6: 48,438,572 (GRCm39) P1547T probably benign Het
Tecta T C 9: 42,306,294 (GRCm39) S45G probably damaging Het
Tenm3 T C 8: 48,689,729 (GRCm39) T1937A possibly damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trmt1l T A 1: 151,315,282 (GRCm39) I156N probably damaging Het
Vmn1r71 C T 7: 10,482,199 (GRCm39) R163Q probably benign Het
Ythdf2 C T 4: 131,938,757 (GRCm39) G13D probably damaging Het
Zbtb7c A T 18: 76,270,047 (GRCm39) Y45F possibly damaging Het
Zfc3h1 G A 10: 115,243,890 (GRCm39) M740I probably damaging Het
Other mutations in Slitrk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Slitrk4 APN X 63,315,657 (GRCm39) missense probably damaging 1.00
IGL02139:Slitrk4 APN X 63,314,555 (GRCm39) missense probably benign 0.01
IGL02927:Slitrk4 APN X 63,314,933 (GRCm39) missense possibly damaging 0.67
R1909:Slitrk4 UTSW X 63,316,229 (GRCm39) missense probably damaging 0.99
R2006:Slitrk4 UTSW X 63,314,295 (GRCm39) frame shift probably null
R2006:Slitrk4 UTSW X 63,314,294 (GRCm39) frame shift probably null
Z1176:Slitrk4 UTSW X 63,315,063 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16