Nckap1 - SNV Details



 Gene Information 
Gene Name Nckap1
Old Gene Names for Nckap1 C79304
Gene Description NCK-associated protein 1 [Source:MGI Symbol;Acc:MGI:1355333]
MGI phenotype Mice homozygous for disruptions in this gene exhibit growth arrest at midgestation, an open neural tube, cardia bifida, defective foregut development, defects in endoderm and mesoderm migration and sometimes duplication of the anteroposterior body axis.
Uniprot Name
CCDS Name
Gene GO
lamellipodium membrane; somitogenesis; embryonic heart tube development; integral to membrane; regulation of protein localization; cytoplasm; cell migration involved in gastrulation; zygotic determination of anterior/posterior axis
embryo; protein binding; paraxial mesoderm development; embryonic body morphogenesis; protein stabilization; establishment or maintenance of actin cytoskeleton polarity; in utero embryonic development; neural tube closure; lamellipodium; endoderm development; basal protein localization; notochord morphogenesis; notochord development; mesodermal cell migration; paraxial mesoderm morphogenesis; lamellipodium assembly; embryonic foregut morphogenesis; apical protein localization
Homolog in other species NCKAP1
Omim http://omim.org/entry/604891
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
HIGH(LOWER IN PANCREAS, IMM.G3, SPLEEN)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027002
Chromosome 2
Coordinate 80,530,297     (Assembly: GRCm38)    
Ref Base T
Codon Change Act/Gct
Var Base C
Zygosity Heterozygous
Read Depth 22
Allele Frequency
T:R0.45
C:V0.55
Amino Acid Position 497
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01677
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.24
Polyphen Prediction Benign
Sift Score 0.14
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000028386:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Nck-associated protein 1 Nck-associated_protein-1 IPR019137 ENSMUSP00000028386 Pfam 8
1123 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved