Flna - SNV Details



 Human Rare Diseases 
Frontometaphyseal dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Otopalatodigital syndrome type 2
Terminal osseous dysplasia - pigmentary defects
Congenital valvular dysplasia
Otopalatodigital syndrome type 1
Congenital short bowel
Periventricular nodular heterotopia
Chronic intestinal pseudo-obstruction
Osteodysplasty, Melnick-Needles type

 Gene Information 
Gene Name Flna
Old Gene Names for Flna Fln1 , F730004a14rik
Gene Description filamin, alpha [Source:MGI Symbol;Acc:MGI:95556]
MGI phenotype Females heterozygous for an X-linked, ENU-induced mutation exhibit dilated pupils and milder cardiac, sternum, and palate defects than males. Hemizygous males are inviable and exhibit incomplete septation of the outflow tract, septal defects, cleft palate and incomplete fusion of the sternum.
Uniprot Name
CCDS Name
Gene GO
mRNA transcription from RNA polymerase II promoter; dendritic shaft; cortical cytoskeleton; perinuclear region of cytoplasm; trans-Golgi network; membrane; actin cytoskeleton organization; cell cortex; cytoplasm; poly(A) RNA binding; early endosome to late endosome transport; actin crosslink formation; positive regulation of I-kappaB kinase/NF-kappaB signaling; negative regulation of protein catabolic process; actin cytoskeleton reorganization; apical dendrite; establishment of protein localization; negative regulation of sequence-specific DNA binding transcription factor activity; protein homodimerization activity; cilium assembly; protein complex; positive regulation of transcription factor import into nucleus; small GTPase binding; spindle assembly involved in mitosis; actin filament; protein binding; neuronal cell body; glycoprotein binding; nucleus; protein stabilization; Fc-gamma receptor I complex binding; cytosol; extracellular vesicular exosome; cytoskeleton; Ral GTPase binding; epithelial to mesenchymal transition; Rho GTPase binding; actin cytoskeleton; SMAD binding; actin filament binding; protein localization to cell surface; plasma membrane; adenylate cyclase-inhibiting dopamine receptor signaling pathway; signal transducer activity; actin binding; Myb complex; receptor clustering; transcription factor binding; protein kinase C binding; mu-type opioid receptor binding {xref="GOC:sl"}; Rac GTPase binding; cytoplasmic sequestering of protein; cell projection organization
Homolog in other species FLNA
Omim http://omim.org/entry/300017
Immgen Expression
HIGH
Gnf Expression
MEDIAN
MEDIAN/HIGH(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, IMM.G1, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3, EPITH GROUP, TRACHEA, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031328
Chromosome X
Coordinate 74,223,900     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 42
Allele Frequency
G:R0.57
A:V0.43
Amino Acid Change R->C (Arginine -> Cysteine)
Sample ID IGL02930
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved