Pifo - SNV Details



 Gene Information 
Gene Name Pifo
Old Gene Names for Pifo 1700027a23rik
Gene Description RIKEN cDNA 1700027A23 gene [Source:MGI Symbol;Acc:MGI:1923670]
MGI phenotype Male mice chimeric for a null allele of this gene are infertile. Heterozygous null embryos generated by tetraploid complementation display embryonic lethality during organogenesis with double outlet heart right ventricle, duplicated cilia and defects in cilia disassembly.
Uniprot Name
CCDS Name
Gene GO
trans-Golgi network; microtubule basal body; beta-tubulin binding; protein binding; nucleus; regulation of cell projection organization; gamma-tubulin binding; positive regulation of kinase activity; Rab GTPase binding; protein kinase binding; Golgi stack; kinesin binding; cytoplasmic membrane-bounded vesicle; cell projection organization
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN TESTIS, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN, SEPTUM.RESP.EPITH)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000010136
Chromosome 3
Coordinate 105,997,207     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 29
Allele Frequency
G:R0.52
T:V0.48
Amino Acid Change Disrupted splicing
Splice Position 8
Sample ID IGL01615
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved