Apc - SNV Details



 Human Rare Diseases 
Turcot syndrome with polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Desmoid disease
APC-related attenuated familial adenomatous polyposis

 Gene Information 
Gene Name Apc
Old Gene Names for Apc Ai047805 , Au020952 , Aw124434
Gene Description adenomatosis polyposis coli [Source:MGI Symbol;Acc:MGI:88039]
MGI phenotype Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.
Uniprot Name
CCDS Name
Gene GO
axon part; regulation of epithelial cell differentiation; T cell differentiation in thymus; tight junction; Wnt receptor signaling pathway; negative regulation of epithelial cell proliferation involved in prostate gland development; canonical Wnt receptor signaling pathway; muscle cell homeostasis; microtubule plus-end binding; lateral plasma membrane; anterior/posterior pattern specification; cell cycle arrest; positive regulation of epithelial cell differentiation; regulation of cell cycle; regulation of cell migration; beta-catenin binding; thymus development; cytoplasm; positive regulation of apoptotic process; negative regulation of apoptotic process; retina development in camera-type eye; stem cell maintenance; axonogenesis; negative regulation of epithelial cell proliferation; protein kinase regulator activity; skin development; cytokinesis after mitosis; regulation of nitrogen compound metabolic process; dorsal/ventral pattern formation; proximal/distal pattern formation; beta-catenin destruction complex; microtubule binding; positive regulation of cell division; negative regulation of canonical Wnt receptor signaling pathway; mitotic cell cycle spindle assembly checkpoint; positive regulation of cell migration; positive regulation of cell differentiation; establishment or maintenance of cell polarity; positive regulation of protein catabolic process; cytoplasmic microtubule; cell projection; gamma-catenin binding; protein complex assembly; cell-cell adherens junction; cell projection membrane; negative regulation of cyclin-dependent protein kinase activity; protein binding; synapse; neuronal cell body; pancreas development; regulation of microtubule-based process; negative regulation of cell proliferation; regulation of cell differentiation; negative regulation of MAPK cascade; binding; kidney development; regulation of attachment of spindle microtubules to kinetochore; nucleus; cell migration; regulation of osteoblast differentiation; axonal growth cone; negative regulation of microtubule depolymerization; lamellipodium; microtubule plus end; response to drug; hair follicle development; response to DNA damage stimulus; growth cone; positive regulation of pseudopodium assembly; negative regulation of Wnt receptor signaling pathway; pattern specification process; ruffle membrane; mitotic metaphase/anaphase transition; plasma membrane; kinetochore; positive regulation of microtubule polymerization; chromosome organization; regulation of apoptotic process; protein kinase binding; somatic stem cell maintenance; regulation of osteoclast differentiation; negative regulation of odontogenesis; centrosome; axis specification; positive regulation of cell adhesion; cytoplasmic microtubule organization
Homolog in other species APC
Omim http://omim.org/entry/611731
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN
MEDIAN(HIGH IN NS GROUP)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000005871
Chromosome 18
Coordinate 34,317,670     (Assembly: GRCm38)    
Ref Base C
Codon Change Cca/Tca
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
C:R0.51
T:V0.49
Amino Acid Position 2540
Amino Acid Change P->S (Proline -> Serine)
Sample ID IGL01347
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 56 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0.03
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000078337:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Adenomatous polyposis coli protein basic domain APC_basic_dom IPR009234 ENSMUSP00000078337 Pfam 2223
2579 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved