|Institutional Source||Beutler Lab|
|Gene Name||formin homology 2 domain containing 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1911 (G1)|
|Chromosomal Location||24709445-25133500 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 25112586 bp|
|Amino Acid Change||Aspartic acid to Valine at position 1231 (D1231V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041361 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037097]|
|Predicted Effect||possibly damaging
AA Change: D1231V
PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D1231V
|Meta Mutation Damage Score||0.2822|
|Coding Region Coverage||
|Validation Efficiency||99% (99/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fhod3||
(F):5'- GGACCAAATGCCTGTCACAC -3'
(R):5'- AGTTCAAGGACAGAAAGCTTTG -3'
(F):5'- ACCAGCTTGTCCTATGCTAGGG -3'
(R):5'- AAAAGCTGCTTGTTCCACTGTG -3'