Fmn1 - SNV Details



 Gene Information 
Gene Name Fmn1
Old Gene Names for Fmn1 Bb164513 , Fmn
Gene Description formin 1 [Source:MGI Symbol;Acc:MGI:101815]
MGI phenotype Homozygotes for spontaneous, irradiation-induced, and transgene-insertional mutations show severe syndactyly and oligodactyly of the feet, abnormal long bones (including radius-ulna fusions), and reduced or absent kidneys. Many mutants survive and breed.
Uniprot Name
CCDS Name
Gene GO
actin cytoskeleton organization; positive regulation of actin filament polymerization; cytoplasm; SH3 domain binding; positive regulation of actin nucleation; cellular component organization; DNA binding; adherens junction; protein binding; nucleus; hindlimb morphogenesis; skeletal system morphogenesis; actin cytoskeleton; plasma membrane; gene expression; forelimb morphogenesis; actin binding
Homolog in other species FMN1
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000044042
Chromosome 2
Coordinate 113,444,368     (Assembly: GRCm38)    
Ref Base C
Codon Change gaC/gaA
Var Base A
Zygosity Heterozygous
Read Depth 33
Allele Frequency
C:R0.30
A:V0.67
Amino Acid Position 692
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL01520
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.92
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved