|Institutional Source||Beutler Lab|
|Gene Name||inverted formin, FH2 and WH2 domain containing|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1452 (G1)|
|Chromosomal Location||112588784-112615557 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 112601344 bp (GRCm38)|
|Amino Acid Change||Asparagine to Serine at position 136 (N136S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000098591 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000101029] [ENSMUST00000220786]|
|AlphaFold||no structure available at present|
AA Change: N136S
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: N136S
|Meta Mutation Damage Score||0.1254|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele display placental vasculopathy, restricted fetal growth, increased gestational length and transient increase in maternal blood pressure in the late stages of pregnancy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Inf2||
(F):5'- TTTCCTGAAACGGCCTGCCTTGAC -3'
(R):5'- ACACTGAGCAGGGTGACCACATAG -3'
(F):5'- CTTGACCCGAGAGGAGAAGTC -3'
(R):5'- ACATAGGGCACGTTGTCACTG -3'