Fmnl1 - SNV Details



 Gene Information 
Gene Name Fmnl1
Old Gene Names for Fmnl1 8030453n10rik , Ai553564
Gene Description formin-like 1 [Source:MGI Symbol;Acc:MGI:1888994]
Uniprot Name
CCDS Name
Gene GO
actin cytoskeleton organization; regulation of cell shape; cellular component organization; profilin binding; protein binding; GTPase activating protein binding; binding; cellular process; cytosol; Rho GTPase binding; actin filament binding; actin filament severing; substrate-dependent cell migration; plasma membrane; phagocytic vesicle; actin binding; cortical actin cytoskeleton organization; Rac GTPase binding
Homolog in other species FMNL1
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055805
Chromosome 11
Coordinate 103,179,538     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 99
Allele Frequency
A:R0.53
G:V0.46
Amino Acid Position 51
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02324
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000046296:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Formin, GTPase-binding domain Drf_GTPase-bd IPR010473 ENSMUSP00000046296 Pfam 29
155 Description available Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000046296 Superfamily 35
446 Description available Search pathways

 Availability Details 
Availability Cryopreserved