Slit3 - SNV Details



 Gene Information 
Gene Name Slit3
Gene Description slit homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1315202]
MGI phenotype Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion.
Uniprot Name
CCDS Name
Gene GO
negative regulation of gene expression; mitochondrion; spinal cord development; axon extension involved in axon guidance; Roundabout binding; organ morphogenesis; cellular response to hormone stimulus; negative chemotaxis; protein binding; negative regulation of cell proliferation; apoptotic process involved in luteolysis; negative regulation of cell growth; axon guidance; Roundabout signaling pathway; negative regulation of chemokine-mediated signaling pathway; receptor binding; calcium ion binding; extracellular space; brain development; response to cortisol stimulus
Homolog in other species SLIT3
Omim http://omim.org/entry/603745
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000056427
Chromosome 11
Coordinate 35,700,345     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02640
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved