Macf1 - SNV Details



 Gene Information 
Gene Name Macf1
Old Gene Names for Macf1 R74989 , Aclp7
Gene Description microtubule-actin crosslinking factor 1 [Source:MGI Symbol;Acc:MGI:108559]
MGI phenotype Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality.
Uniprot Name
CCDS Name
Gene GO
positive regulation of Wnt receptor signaling pathway; ATPase activity; Wnt receptor signaling pathway; membrane; catalytic activity; cell cycle arrest; cytoplasm; Golgi to plasma membrane protein transport; microtubule; mesoderm formation; microtubule binding; cellular metabolic process; wound healing; regulation of epithelial cell migration; establishment or maintenance of cell polarity; protein binding; regulation of microtubule-based process; regulation of focal adhesion assembly; cytoskeleton; posttranslational protein targeting to membrane; nucleotide binding; actin cytoskeleton; microtubule cytoskeleton; ruffle membrane; plasma membrane; actin binding; calcium ion binding; ATP catabolic process; cellular component movement; Golgi apparatus
Homolog in other species MACF1
Omim http://omim.org/entry/608271
Immgen Expression
HIGH
Gnf Expression
LOW
MEDIAN
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028649
Chromosome 4
Coordinate 123,355,163     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 32
Allele Frequency
A:R0.44
G:V0.56
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02602
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved