Robo1 - SNV Details



 Gene Information 
Gene Name Robo1
Old Gene Names for Robo1 Aw742721 , Aw494633
Gene Description roundabout homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1274781]
MGI phenotype Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia.
Uniprot Name
CCDS Name
Gene GO
spinal cord development; integral to membrane; cytoplasm; negative regulation of negative chemotaxis; activation of cysteine-type endopeptidase activity involved in apoptotic process; homophilic cell adhesion; mammary duct terminal end bud growth; regulation of dendrite morphogenesis; protein binding; cell surface; neuronal cell body; negative regulation of cell proliferation; positive regulation of axonogenesis; LRR domain binding; axon guidance receptor activity; cell migration involved in sprouting angiogenesis; axolemma; negative regulation of mammary gland epithelial cell proliferation; axon guidance; Roundabout signaling pathway; negative regulation of chemokine-mediated signaling pathway; identical protein binding; axon midline choice point recognition; protein heterodimerization activity; chemorepulsion involved in postnatal olfactory bulb interneuron migration
Homolog in other species ROBO1
Omim http://omim.org/entry/602430
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
HIGH(LOWER IN PANCREAS, IMM.G3, SPLEEN)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022883
Chromosome 16
Coordinate 72,971,984     (Assembly: GRCm38)    
Ref Base G
Codon Change gGt/gAt
Var Base A
Zygosity Heterozygous
Read Depth 25
Allele Frequency
G:R0.40
A:V0.60
Amino Acid Position 479
Amino Acid Change G->D (Glycine -> Aspartic acid)
Sample ID IGL02232
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 71 Other Mutations

 Predictions 
Sift Score 0.23
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000023600:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Immunoglobulin subtype Ig_sub IPR003599 ENSMUSP00000023600 Smart 422
504 Description available Search pathways
Immunoglobulin I-set Ig_I-set IPR013098 ENSMUSP00000023600 Pfam 416
503 Description available Search pathways
Immunoglobulin V-set, subgroup Ig_V-set_subgr IPR003596 ENSMUSP00000023600 Smart 432
488 Description available Search pathways
Immunoglobulin subtype 2 Ig_sub2 IPR003598 ENSMUSP00000023600 Smart 428
493 Description available Search pathways
Immunoglobulin-like domain Ig-like_dom IPR007110 ENSMUSP00000023600 Prosite_profiles 416
502 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved