Incidental Mutation 'R1917:Fhod3'
ID 212658
Institutional Source Beutler Lab
Gene Symbol Fhod3
Ensembl Gene ENSMUSG00000034295
Gene Name formin homology 2 domain containing 3
Synonyms A930009H06Rik
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1917 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 24841680-25266558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25218658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 807 (D807G)
Ref Sequence ENSEMBL: ENSMUSP00000041361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037097]
AlphaFold Q76LL6
Predicted Effect probably benign
Transcript: ENSMUST00000037097
AA Change: D807G

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: D807G

DomainStartEndE-ValueType
PDB:3DAD|B 1 327 1e-127 PDB
Blast:Drf_GBD 73 204 3e-60 BLAST
Blast:FH2 219 306 4e-25 BLAST
low complexity region 399 420 N/A INTRINSIC
low complexity region 428 446 N/A INTRINSIC
low complexity region 553 583 N/A INTRINSIC
coiled coil region 598 632 N/A INTRINSIC
low complexity region 674 701 N/A INTRINSIC
low complexity region 753 763 N/A INTRINSIC
low complexity region 784 793 N/A INTRINSIC
Blast:FH2 879 918 1e-9 BLAST
Blast:FH2 931 964 1e-7 BLAST
low complexity region 965 980 N/A INTRINSIC
low complexity region 985 1023 N/A INTRINSIC
FH2 1039 1492 3.96e-72 SMART
Blast:FH2 1506 1570 9e-11 BLAST
Meta Mutation Damage Score 0.1496 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
MGI Phenotype 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
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,341 (GRCm39) probably benign Het
Adgre5 A G 8: 84,455,738 (GRCm39) V190A probably damaging Het
Akap6 A G 12: 53,151,395 (GRCm39) N1153S probably benign Het
Aldh1a7 G A 19: 20,704,819 (GRCm39) H20Y probably benign Het
B430306N03Rik A G 17: 48,631,176 (GRCm39) E278G probably benign Het
Cacna1b C A 2: 24,506,891 (GRCm39) R72L probably null Het
Cc2d2a C G 5: 43,863,564 (GRCm39) S675R probably damaging Het
Ccdc88b T A 19: 6,826,594 (GRCm39) E1040D probably damaging Het
Cmtm7 A G 9: 114,592,432 (GRCm39) V55A probably damaging Het
Coq4 A C 2: 29,679,938 (GRCm39) T77P probably damaging Het
Cyp2j11 C A 4: 96,228,211 (GRCm39) W136L probably damaging Het
Dctn2 T A 10: 127,110,918 (GRCm39) Y86* probably null Het
Ddx56 A G 11: 6,213,937 (GRCm39) probably null Het
Dop1b T C 16: 93,513,150 (GRCm39) S30P probably damaging Het
Ep400 T C 5: 110,851,441 (GRCm39) K1347R unknown Het
Fat3 T A 9: 15,908,353 (GRCm39) T2550S possibly damaging Het
Fcrla G T 1: 170,755,095 (GRCm39) C5* probably null Het
Fem1al A G 11: 29,774,039 (GRCm39) S473P probably benign Het
Fermt1 T A 2: 132,764,762 (GRCm39) D365V probably damaging Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gart T C 16: 91,425,037 (GRCm39) Y662C probably damaging Het
Gda A T 19: 21,375,004 (GRCm39) probably benign Het
Gk A G X: 84,804,186 (GRCm39) I85T probably damaging Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,607,684 (GRCm39) C2R unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gtf2h4 G A 17: 35,981,090 (GRCm39) L246F possibly damaging Het
Hao1 A T 2: 134,364,980 (GRCm39) S216T probably benign Het
Hnrnpr C A 4: 136,059,799 (GRCm39) S301* probably null Het
Hsd3b2 A G 3: 98,619,342 (GRCm39) I201T probably benign Het
Jade2 T C 11: 51,709,365 (GRCm39) E548G possibly damaging Het
Katnbl1 T C 2: 112,239,524 (GRCm39) I241T probably benign Het
Keap1 G T 9: 21,145,102 (GRCm39) Q299K probably benign Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Lrba G A 3: 86,571,808 (GRCm39) G275R probably damaging Het
Map3k9 C A 12: 81,827,564 (GRCm39) E29* probably null Het
Mat1a G A 14: 40,843,394 (GRCm39) V307I probably damaging Het
Mcm2 A T 6: 88,868,785 (GRCm39) M324K possibly damaging Het
Metap1d T C 2: 71,341,871 (GRCm39) V155A probably damaging Het
Mtbp A G 15: 55,428,073 (GRCm39) probably benign Het
Myh14 T C 7: 44,307,349 (GRCm39) T231A probably benign Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Myo15b T A 11: 115,773,080 (GRCm39) I1837K possibly damaging Het
Myo3a T A 2: 22,296,733 (GRCm39) H242Q probably damaging Het
Nxn A G 11: 76,152,498 (GRCm39) probably benign Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Pak3 C A X: 142,574,298 (GRCm39) A553E possibly damaging Het
Pdia2 T A 17: 26,417,079 (GRCm39) T122S possibly damaging Het
Pira12 C T 7: 3,900,637 (GRCm39) V38M probably damaging Het
Plod2 A G 9: 92,463,310 (GRCm39) T132A probably benign Het
Ptprz1 T A 6: 23,035,039 (GRCm39) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Recql4 A T 15: 76,588,037 (GRCm39) Y1142* probably null Het
Rnf216 A G 5: 142,978,561 (GRCm39) V859A probably benign Het
Scnm1 G T 3: 95,037,584 (GRCm39) P161T possibly damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Serpinf1 A G 11: 75,301,833 (GRCm39) I274T possibly damaging Het
Slc28a1 T C 7: 80,819,334 (GRCm39) F641L probably benign Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Smchd1 A G 17: 71,714,232 (GRCm39) I877T possibly damaging Het
Spata31 T C 13: 65,068,679 (GRCm39) Y276H possibly damaging Het
Spire2 A G 8: 124,089,810 (GRCm39) D447G probably benign Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Sult2a5 T C 7: 13,404,609 (GRCm39) F282S probably damaging Het
Syk A T 13: 52,776,744 (GRCm39) D248V probably damaging Het
Thoc6 C T 17: 23,888,364 (GRCm39) probably benign Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tll2 T A 19: 41,116,936 (GRCm39) D293V possibly damaging Het
Umodl1 G A 17: 31,203,017 (GRCm39) V457M probably damaging Het
Usp19 T A 9: 108,376,524 (GRCm39) C689* probably null Het
Usp24 T G 4: 106,267,483 (GRCm39) V1955G probably damaging Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r69 C T 7: 85,060,891 (GRCm39) C231Y probably damaging Het
Wdr73 C T 7: 80,543,081 (GRCm39) D176N probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zfhx3 T C 8: 109,682,880 (GRCm39) S3440P unknown Het
Zfp52 T G 17: 21,780,426 (GRCm39) N91K probably benign Het
Zfp930 C A 8: 69,681,357 (GRCm39) Q350K probably benign Het
Zfp949 T C 9: 88,452,115 (GRCm39) S562P probably damaging Het
Other mutations in Fhod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Fhod3 APN 18 25,127,597 (GRCm39) missense probably damaging 1.00
IGL01139:Fhod3 APN 18 25,199,401 (GRCm39) missense probably benign 0.00
IGL01293:Fhod3 APN 18 25,153,709 (GRCm39) splice site probably benign
IGL01313:Fhod3 APN 18 25,153,777 (GRCm39) missense probably damaging 1.00
IGL01524:Fhod3 APN 18 25,263,659 (GRCm39) missense probably damaging 0.99
IGL01568:Fhod3 APN 18 25,253,219 (GRCm39) missense probably benign 0.04
IGL01586:Fhod3 APN 18 25,223,804 (GRCm39) missense probably damaging 0.98
IGL01622:Fhod3 APN 18 25,155,924 (GRCm39) missense probably benign 0.35
IGL01623:Fhod3 APN 18 25,155,924 (GRCm39) missense probably benign 0.35
IGL01640:Fhod3 APN 18 25,248,850 (GRCm39) missense probably benign 0.13
IGL01860:Fhod3 APN 18 25,037,005 (GRCm39) missense probably damaging 1.00
IGL01860:Fhod3 APN 18 25,030,738 (GRCm39) missense probably damaging 0.99
IGL02192:Fhod3 APN 18 25,189,415 (GRCm39) missense probably damaging 1.00
IGL02390:Fhod3 APN 18 25,199,332 (GRCm39) missense probably benign 0.15
IGL02550:Fhod3 APN 18 25,156,017 (GRCm39) missense probably benign 0.00
IGL02987:Fhod3 APN 18 25,246,610 (GRCm39) missense possibly damaging 0.87
R0328:Fhod3 UTSW 18 25,246,657 (GRCm39) missense probably benign 0.01
R0362:Fhod3 UTSW 18 25,223,133 (GRCm39) nonsense probably null
R0373:Fhod3 UTSW 18 25,223,161 (GRCm39) missense possibly damaging 0.93
R0483:Fhod3 UTSW 18 24,842,673 (GRCm39) missense probably damaging 1.00
R0570:Fhod3 UTSW 18 25,245,640 (GRCm39) missense probably benign 0.27
R0617:Fhod3 UTSW 18 25,245,736 (GRCm39) splice site probably benign
R0834:Fhod3 UTSW 18 25,248,862 (GRCm39) nonsense probably null
R0836:Fhod3 UTSW 18 25,199,275 (GRCm39) missense probably damaging 1.00
R1132:Fhod3 UTSW 18 25,153,722 (GRCm39) small deletion probably benign
R1157:Fhod3 UTSW 18 25,118,293 (GRCm39) missense probably damaging 1.00
R1158:Fhod3 UTSW 18 25,118,293 (GRCm39) missense probably damaging 1.00
R1160:Fhod3 UTSW 18 25,118,293 (GRCm39) missense probably damaging 1.00
R1381:Fhod3 UTSW 18 25,223,528 (GRCm39) missense probably damaging 1.00
R1533:Fhod3 UTSW 18 25,248,921 (GRCm39) missense probably damaging 1.00
R1621:Fhod3 UTSW 18 25,155,924 (GRCm39) missense probably benign 0.35
R1748:Fhod3 UTSW 18 24,903,550 (GRCm39) nonsense probably null
R1757:Fhod3 UTSW 18 25,199,335 (GRCm39) missense possibly damaging 0.78
R1758:Fhod3 UTSW 18 25,253,367 (GRCm39) missense possibly damaging 0.88
R1872:Fhod3 UTSW 18 25,263,667 (GRCm39) missense probably damaging 1.00
R1911:Fhod3 UTSW 18 25,245,643 (GRCm39) missense possibly damaging 0.81
R1917:Fhod3 UTSW 18 25,123,022 (GRCm39) splice site probably benign
R1934:Fhod3 UTSW 18 25,223,335 (GRCm39) missense probably benign 0.35
R1958:Fhod3 UTSW 18 25,223,522 (GRCm39) missense probably damaging 1.00
R1997:Fhod3 UTSW 18 25,223,473 (GRCm39) missense possibly damaging 0.79
R3618:Fhod3 UTSW 18 25,153,722 (GRCm39) small deletion probably benign
R3709:Fhod3 UTSW 18 25,223,815 (GRCm39) missense probably damaging 1.00
R3937:Fhod3 UTSW 18 25,223,818 (GRCm39) missense probably benign 0.44
R4246:Fhod3 UTSW 18 25,123,123 (GRCm39) missense probably null 1.00
R4248:Fhod3 UTSW 18 25,123,123 (GRCm39) missense probably null 1.00
R4249:Fhod3 UTSW 18 25,123,123 (GRCm39) missense probably null 1.00
R4497:Fhod3 UTSW 18 25,243,296 (GRCm39) critical splice donor site probably null
R4498:Fhod3 UTSW 18 25,243,296 (GRCm39) critical splice donor site probably null
R4532:Fhod3 UTSW 18 25,243,278 (GRCm39) missense probably damaging 1.00
R4596:Fhod3 UTSW 18 25,248,775 (GRCm39) missense probably benign 0.01
R4628:Fhod3 UTSW 18 25,253,186 (GRCm39) missense possibly damaging 0.94
R4667:Fhod3 UTSW 18 25,199,395 (GRCm39) missense probably benign 0.00
R4668:Fhod3 UTSW 18 25,199,395 (GRCm39) missense probably benign 0.00
R4734:Fhod3 UTSW 18 25,161,192 (GRCm39) missense probably benign 0.00
R4753:Fhod3 UTSW 18 25,223,382 (GRCm39) missense possibly damaging 0.80
R4796:Fhod3 UTSW 18 25,118,358 (GRCm39) missense probably damaging 1.00
R4832:Fhod3 UTSW 18 25,223,305 (GRCm39) missense probably benign 0.00
R5338:Fhod3 UTSW 18 25,161,138 (GRCm39) missense probably damaging 0.96
R5832:Fhod3 UTSW 18 25,223,752 (GRCm39) missense probably damaging 1.00
R5863:Fhod3 UTSW 18 25,258,810 (GRCm39) missense probably benign 0.25
R6362:Fhod3 UTSW 18 24,887,312 (GRCm39) missense probably benign 0.00
R6414:Fhod3 UTSW 18 25,223,935 (GRCm39) missense possibly damaging 0.64
R7099:Fhod3 UTSW 18 25,223,219 (GRCm39) missense probably benign
R7172:Fhod3 UTSW 18 25,218,603 (GRCm39) missense probably damaging 1.00
R7190:Fhod3 UTSW 18 25,223,812 (GRCm39) missense probably damaging 1.00
R7241:Fhod3 UTSW 18 25,193,409 (GRCm39) missense probably damaging 1.00
R7294:Fhod3 UTSW 18 25,266,037 (GRCm39) missense probably damaging 1.00
R7348:Fhod3 UTSW 18 25,223,524 (GRCm39) missense possibly damaging 0.80
R7432:Fhod3 UTSW 18 25,134,966 (GRCm39) missense possibly damaging 0.95
R7588:Fhod3 UTSW 18 25,223,305 (GRCm39) missense probably benign 0.02
R7629:Fhod3 UTSW 18 24,887,374 (GRCm39) missense probably benign 0.08
R7667:Fhod3 UTSW 18 25,135,001 (GRCm39) missense probably benign
R7681:Fhod3 UTSW 18 25,123,095 (GRCm39) missense probably damaging 1.00
R7829:Fhod3 UTSW 18 25,248,947 (GRCm39) critical splice donor site probably null
R7889:Fhod3 UTSW 18 24,903,551 (GRCm39) missense probably damaging 0.99
R8072:Fhod3 UTSW 18 25,153,722 (GRCm39) small deletion probably benign
R8117:Fhod3 UTSW 18 25,248,910 (GRCm39) missense probably damaging 1.00
R8245:Fhod3 UTSW 18 25,246,673 (GRCm39) missense probably damaging 1.00
R8511:Fhod3 UTSW 18 25,265,994 (GRCm39) missense probably damaging 0.99
R8518:Fhod3 UTSW 18 25,189,390 (GRCm39) missense probably damaging 1.00
R8845:Fhod3 UTSW 18 25,265,976 (GRCm39) missense probably damaging 0.99
R8889:Fhod3 UTSW 18 25,189,452 (GRCm39) critical splice donor site probably null
R8892:Fhod3 UTSW 18 25,189,452 (GRCm39) critical splice donor site probably null
R9016:Fhod3 UTSW 18 25,243,136 (GRCm39) missense possibly damaging 0.90
R9035:Fhod3 UTSW 18 25,161,140 (GRCm39) missense probably benign 0.03
R9063:Fhod3 UTSW 18 25,153,772 (GRCm39) missense probably damaging 0.99
R9157:Fhod3 UTSW 18 25,218,651 (GRCm39) missense probably damaging 0.98
R9201:Fhod3 UTSW 18 25,127,613 (GRCm39) nonsense probably null
R9244:Fhod3 UTSW 18 25,248,922 (GRCm39) missense probably damaging 1.00
R9268:Fhod3 UTSW 18 24,842,832 (GRCm39) critical splice donor site probably null
R9272:Fhod3 UTSW 18 25,030,681 (GRCm39) splice site probably benign
R9415:Fhod3 UTSW 18 25,102,244 (GRCm39) missense probably damaging 1.00
R9530:Fhod3 UTSW 18 25,248,910 (GRCm39) missense probably damaging 1.00
R9596:Fhod3 UTSW 18 25,193,392 (GRCm39) nonsense probably null
R9739:Fhod3 UTSW 18 24,903,566 (GRCm39) missense probably damaging 1.00
Z1177:Fhod3 UTSW 18 25,153,763 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGATATAGCATCTGCCCAC -3'
(R):5'- TGGAACTAAGAGATCCCACAGC -3'

Sequencing Primer
(F):5'- CCACAGGGGAGCAGAGAGC -3'
(R):5'- CGAAGGACACAGAGCCTG -3'
Posted On 2014-07-14