Kit - SNV Details



 Human Rare Diseases 
Urticaria pigmentosa
Indolent systemic mastocytosis
Piebaldism
Aggressive systemic mastocytosis
Diffuse cutaneous mastocytosis
Cutaneous mastocytoma
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Gastrointestinal stromal tumor
Mast cell leukemia

 Gene Information 
Gene Name Kit
Gene Description kit oncogene [Source:MGI Symbol;Acc:MGI:96677]
MGI phenotype Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hemopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; positive regulation of JAK-STAT cascade; activation of MAPK activity; protein kinase activity; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of tyrosine phosphorylation of Stat1 protein; cellular response to thyroid hormone stimulus; male gonad development; intracellular protein kinase cascade; immature B cell differentiation; germ cell programmed cell death; protein autophosphorylation; chemotaxis; embryonic hemopoiesis; spermatogenesis; integral to membrane; myeloid progenitor cell differentiation; megakaryocyte development; protease binding; cytoplasm; dendritic cell cytokine production; mast cell degranulation; mast cell chemotaxis; metal ion binding; positive regulation of MAP kinase activity; spermatid development; germ cell development; ovarian follicle development; regulation of developmental pigmentation; stem cell factor receptor activity; peptidyl-tyrosine phosphorylation; melanocyte differentiation; regulation of cell shape; response to radiation; actin cytoskeleton reorganization; Fc receptor signaling pathway; detection of mechanical stimulus involved in sensory perception of sound; positive regulation of MAPK cascade; transferase activity
transferring phosphorus-containing groups; protein homodimerization activity; cytokine-mediated signaling pathway; lymphoid progenitor cell differentiation; mast cell differentiation; external side of plasma membrane; melanocyte adhesion; negative regulation of programmed cell death; erythropoietin-mediated signaling pathway; protein binding; transmembrane receptor protein tyrosine kinase signaling pathway; cell surface; inflammatory response; nucleus; Kit signaling pathway; hemopoiesis; digestive tract development; cell chemotaxis; pigmentation; stem cell differentiation; erythrocyte differentiation; glycosphingolipid metabolic process; melanocyte migration; protein phosphorylation; positive regulation of tyrosine phosphorylation of Stat5 protein; cytokine binding; protein tyrosine kinase activity; ATP binding; positive regulation of tyrosine phosphorylation of Stat3 protein; plasma membrane; developmental pigmentation; myeloid leukocyte differentiation; lamellipodium assembly; transmembrane receptor protein tyrosine kinase activity; mast cell cytokine production; extracellular space; positive regulation of cell proliferation; positive regulation of gene expression; T cell differentiation
Homolog in other species KIT
Omim http://omim.org/entry/164920
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000005672
Chromosome 5
Coordinate 75,610,876     (Assembly: GRCm38)    
Ref Base C
Codon Change aCg/aTg
Var Base T
Zygosity Heterozygous
Read Depth 64
Allele Frequency
C:R0.58
T:V0.42
Amino Acid Position 231
Amino Acid Change T->M (Threonine -> Methionine)
Sample ID IGL01149
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0.12
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000005815:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Tyrosine-protein kinase, CSF-1/PDGF receptor Tyr_kinase_CSF1/PDGF_rcpt IPR016243 ENSMUSP00000005815 PIRSF 4
979 Description available Search pathways

 Availability Details 
Availability Cryopreserved