Incidental Mutation 'R1758:Fhod3'
ID 195135
Institutional Source Beutler Lab
Gene Symbol Fhod3
Ensembl Gene ENSMUSG00000034295
Gene Name formin homology 2 domain containing 3
Synonyms A930009H06Rik
MMRRC Submission 039790-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1758 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 24841680-25266558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25253367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 1439 (D1439A)
Ref Sequence ENSEMBL: ENSMUSP00000041361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037097]
AlphaFold Q76LL6
Predicted Effect possibly damaging
Transcript: ENSMUST00000037097
AA Change: D1439A

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: D1439A

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,612,237 (GRCm39) R38G possibly damaging Het
4930590J08Rik T C 6: 91,892,203 (GRCm39) V155A possibly damaging Het
Adgb A G 10: 10,302,349 (GRCm39) S406P probably damaging Het
Adgrb2 C A 4: 129,905,668 (GRCm39) T893N probably damaging Het
Adgrf5 T C 17: 43,735,484 (GRCm39) probably null Het
Alms1 T A 6: 85,605,487 (GRCm39) I2379N probably damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf4 C T 15: 80,141,414 (GRCm39) T268I probably benign Het
Cblif G A 19: 11,735,179 (GRCm39) M266I probably damaging Het
Ccdc154 T C 17: 25,382,156 (GRCm39) L25P probably damaging Het
Ccdc9 G A 7: 16,010,161 (GRCm39) S381F probably damaging Het
Cdk17 C T 10: 93,044,112 (GRCm39) T17M probably damaging Het
Cep128 T C 12: 91,314,352 (GRCm39) N142S probably benign Het
Cep78 A G 19: 15,936,900 (GRCm39) I602T probably damaging Het
Clasp1 C T 1: 118,475,755 (GRCm39) T935I probably damaging Het
Cnr1 T C 4: 33,945,000 (GRCm39) S463P probably damaging Het
Cntnap1 T A 11: 101,075,449 (GRCm39) W876R probably damaging Het
Cntnap5c A G 17: 58,349,545 (GRCm39) D286G probably damaging Het
Copa C T 1: 171,931,711 (GRCm39) R321C probably damaging Het
Cspg4b A G 13: 113,505,266 (GRCm39) T2132A possibly damaging Het
Ctla2a T G 13: 61,083,256 (GRCm39) E98A probably damaging Het
Cux1 A T 5: 136,421,176 (GRCm39) D183E probably damaging Het
Cxcl15 A C 5: 90,949,323 (GRCm39) T163P unknown Het
Ddias T C 7: 92,508,571 (GRCm39) N448S probably benign Het
Dhx8 T C 11: 101,657,564 (GRCm39) F1152S probably damaging Het
Dnah12 C A 14: 26,488,071 (GRCm39) Q992K probably benign Het
Eno3 G T 11: 70,552,251 (GRCm39) W301L possibly damaging Het
Faap100 A T 11: 120,268,059 (GRCm39) V238E probably damaging Het
Fgf4 A G 7: 144,416,049 (GRCm39) S137G probably benign Het
Frem2 A G 3: 53,560,778 (GRCm39) L1243P probably damaging Het
Gkn3 T G 6: 87,365,817 (GRCm39) M1L probably benign Het
Gm10250 T C 15: 5,150,509 (GRCm39) probably benign Het
Gm12185 T C 11: 48,798,859 (GRCm39) T545A possibly damaging Het
Gm14226 T A 2: 154,867,378 (GRCm39) L445H probably damaging Het
Gm3404 A T 5: 146,463,036 (GRCm39) M73L probably benign Het
Gm973 G T 1: 59,673,169 (GRCm39) R976S unknown Het
Gpr146 A T 5: 139,379,137 (GRCm39) H313L probably benign Het
Gys2 T A 6: 142,418,432 (GRCm39) E32D probably damaging Het
Igsf10 G A 3: 59,236,617 (GRCm39) T1188I probably benign Het
Igsf9b A T 9: 27,245,548 (GRCm39) T1172S possibly damaging Het
Itga8 T A 2: 12,270,144 (GRCm39) N114I possibly damaging Het
Itsn2 T A 12: 4,708,160 (GRCm39) V795E possibly damaging Het
Kdm1b T A 13: 47,214,244 (GRCm39) S197T probably benign Het
Kif5c G A 2: 49,613,145 (GRCm39) R161Q probably benign Het
Krt33b T C 11: 99,916,361 (GRCm39) Y232C probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1 A T 10: 127,424,453 (GRCm39) N744K possibly damaging Het
Mcm10 C A 2: 5,008,861 (GRCm39) L369F probably damaging Het
Muc5ac T A 7: 141,355,268 (GRCm39) I1018N possibly damaging Het
Myom2 T C 8: 15,115,795 (GRCm39) L70P probably benign Het
Myt1l T A 12: 29,877,241 (GRCm39) N297K unknown Het
Ncr1 C T 7: 4,343,807 (GRCm39) T98I probably benign Het
Nek3 T C 8: 22,650,278 (GRCm39) E78G probably damaging Het
Nfatc3 T A 8: 106,825,768 (GRCm39) N606K probably damaging Het
Nup107 T G 10: 117,597,248 (GRCm39) D669A probably damaging Het
Or10ag52 A T 2: 87,043,758 (GRCm39) Q174L probably benign Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Or4c3 T C 2: 89,851,673 (GRCm39) T246A probably benign Het
Or8b55 A T 9: 38,726,871 (GRCm39) H24L probably benign Het
Pcnx1 T C 12: 82,030,258 (GRCm39) V1711A probably benign Het
Pik3c3 A G 18: 30,410,063 (GRCm39) D99G probably damaging Het
Pinx1 C A 14: 64,157,024 (GRCm39) T317K probably benign Het
Ppargc1b G T 18: 61,431,857 (GRCm39) probably null Het
Pradc1 T A 6: 85,424,203 (GRCm39) I119F possibly damaging Het
Psat1 G T 19: 15,892,243 (GRCm39) T242K probably damaging Het
Psma6 G A 12: 55,454,317 (GRCm39) C28Y probably damaging Het
Pyurf A T 6: 57,668,817 (GRCm39) C58* probably null Het
Rab3gap2 C A 1: 185,016,081 (GRCm39) A1331E probably benign Het
Rnase4 T C 14: 51,342,722 (GRCm39) *149Q probably null Het
Ruvbl2 T C 7: 45,074,586 (GRCm39) K184R probably benign Het
Scn7a T G 2: 66,510,527 (GRCm39) M1292L probably benign Het
Scn7a A T 2: 66,531,231 (GRCm39) Y549N probably damaging Het
Selp A G 1: 163,959,854 (GRCm39) D370G possibly damaging Het
Slc22a15 G A 3: 101,767,769 (GRCm39) Q386* probably null Het
Slc22a29 A G 19: 8,195,126 (GRCm39) probably null Het
Slc26a7 A C 4: 14,548,491 (GRCm39) I266S possibly damaging Het
Smpd4 T C 16: 17,443,872 (GRCm39) S112P probably damaging Het
Smpd4 T A 16: 17,458,744 (GRCm39) L165Q probably damaging Het
Snx33 A G 9: 56,833,982 (GRCm39) I29T probably benign Het
Spen G A 4: 141,203,686 (GRCm39) P1647L unknown Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Swsap1 C T 9: 21,867,280 (GRCm39) R75* probably null Het
Tesl1 A G X: 23,772,990 (GRCm39) I164V probably benign Het
Tmem210 C T 2: 25,178,435 (GRCm39) T32I probably damaging Het
Tnn C T 1: 159,975,154 (GRCm39) R91H possibly damaging Het
Tnni1 G A 1: 135,736,420 (GRCm39) R94H probably damaging Het
Tnrc6c T A 11: 117,651,556 (GRCm39) V1693D probably benign Het
Trip4 G A 9: 65,782,259 (GRCm39) Q158* probably null Het
Ttc39b T C 4: 83,155,586 (GRCm39) E474G probably damaging Het
Usp50 C A 2: 126,617,782 (GRCm39) C221F probably damaging Het
Vmn1r171 T C 7: 23,331,781 (GRCm39) I2T probably benign Het
Wdr62 T A 7: 29,967,328 (GRCm39) I309F probably damaging Het
Xdh A T 17: 74,217,204 (GRCm39) V688E probably damaging Het
Zfyve26 A G 12: 79,285,718 (GRCm39) L2353P probably damaging Het
Zgpat C A 2: 181,020,633 (GRCm39) R269S 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
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 25,218,658 (GRCm39) missense probably benign 0.27
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'- GATGCTTCAACTTAACAGGCCCAGG -3'
(R):5'- AACAGATTTCCACAGGCGTGGCAG -3'

Sequencing Primer
(F):5'- GCCCAGGAATGAATAGTGTCTCC -3'
(R):5'- CAGGCGTGGCAGAAGAG -3'
Posted On 2014-05-23