Nf1 - SNV Details



 Human Rare Diseases 
Watson syndrome
Familial spinal neurofibromatosis
17q11.2 microduplication syndrome
17q11 microdeletion syndrome
Familial segmental neurofibromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome
Neurofibromatosis type 1

 Gene Information 
Gene Name Nf1
Old Gene Names for Nf1 Nf-1 , Aw494271
Gene Description neurofibromatosis 1 [Source:MGI Symbol;Acc:MGI:97306]
MGI phenotype Homozygous embryos die by day 14.5 with enlarged head and chest, pale liver, microphthalmia, cardiac defects and delayed organ development. Heterozygotes have elevated astrocyte number, predisposition to multiple tumor types and learning/memory deficits.
Uniprot Name
CCDS Name
Gene GO
negative regulation of cell migration; negative regulation of endothelial cell proliferation; regulation of angiogenesis; spinal cord development; peripheral nervous system development; intrinsic to internal side of plasma membrane; regulation of long-term neuronal synaptic plasticity; negative regulation of astrocyte differentiation; negative regulation of MAP kinase activity; actin cytoskeleton organization; negative regulation of Rac protein signal transduction; regulation of small GTPase mediated signal transduction; sympathetic nervous system development; visual learning; cytoplasm; signal transduction; neural tube development; regulation of glial cell differentiation; positive regulation of apoptotic process; positive regulation of adenylate cyclase activity; liver development; negative regulation of fibroblast proliferation; cell communication; myelination in peripheral nervous system; positive regulation of neuron apoptotic process; phosphatidylinositol 3-kinase cascade; camera-type eye morphogenesis; intracellular; wound healing; collagen fibril organization; smooth muscle tissue development; negative regulation of protein kinase activity; response to hypoxia; protein binding; positive regulation of endothelial cell proliferation; cognition; Ras GTPase activator activity; negative regulation of cell proliferation; negative regulation of cell-matrix adhesion; negative regulation of MAPK cascade; binding; Ras protein signal transduction; GTPase activator activity; axon; regulation of cell proliferation; negative regulation of osteoclast differentiation; regulation of blood vessel endothelial cell migration; negative regulation of neuroblast proliferation; regulation of Ras GTPase activity; adrenal gland development; cerebral cortex development; pigmentation; skeletal muscle tissue development; negative regulation of transcription factor import into nucleus; artery morphogenesis; regulation of cell-matrix adhesion; extracellular matrix organization; MAPK cascade; metanephros development; Schwann cell development; dendrite; positive regulation of Ras GTPase activity; negative regulation of oligodendrocyte differentiation; heart development; negative regulation of angiogenesis; negative regulation of neurotransmitter secretion; forebrain morphogenesis; regulation of synaptic transmission
GABAergic; forebrain astrocyte development; osteoblast differentiation; brain development; regulation of bone resorption; negative regulation of Ras protein signal transduction
Homolog in other species NF1
Omim http://omim.org/entry/613113
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020716
Chromosome 11
Coordinate 79,547,120     (Assembly: GRCm38)    
Ref Base T
Codon Change caT/caA
Var Base A
Zygosity Heterozygous
Read Depth 197
Allele Frequency
T:R0.55
A:V0.45
Amino Acid Position 2101
Amino Acid Change H->Q (Histidine -> Glutamine)
Sample ID IGL01637
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 64 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000071289:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000071289 Superfamily 1851
2425 Description available Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000071289 Superfamily 278
2679 Description available Search pathways

 Availability Details 
Availability Cryopreserved