Incidental Mutation 'R6362:Fhod3'
ID 512557
Institutional Source Beutler Lab
Gene Symbol Fhod3
Ensembl Gene ENSMUSG00000034295
Gene Name formin homology 2 domain containing 3
Synonyms A930009H06Rik
MMRRC Submission 044512-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6362 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 24841680-25266558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24887312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 68 (A68S)
Ref Sequence ENSEMBL: ENSMUSP00000041361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037097]
AlphaFold Q76LL6
Predicted Effect probably benign
Transcript: ENSMUST00000037097
AA Change: A68S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: A68S

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 0.0735 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 99% (78/79)
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
Aldh5a1 T G 13: 25,102,533 (GRCm39) D310A probably benign Het
Als2cl T A 9: 110,724,514 (GRCm39) probably null Het
Amacr C A 15: 10,984,891 (GRCm39) R170S probably damaging Het
Brwd1 C T 16: 95,803,507 (GRCm39) R2221Q probably damaging Het
Cacna1g A T 11: 94,330,533 (GRCm39) probably null Het
Cd3d G A 9: 44,897,589 (GRCm39) D157N probably damaging Het
Cep131 T C 11: 119,955,516 (GRCm39) D1043G probably damaging Het
Cimip1 T G 2: 173,369,967 (GRCm39) probably null Het
Cit A G 5: 116,024,735 (GRCm39) D326G probably benign Het
Col16a1 G C 4: 129,959,983 (GRCm39) G370R unknown Het
Col6a3 T A 1: 90,738,285 (GRCm39) Y1078F probably damaging Het
Colgalt2 A C 1: 152,347,549 (GRCm39) Y161S probably damaging Het
Cyp2j13 A G 4: 95,959,932 (GRCm39) Y75H probably damaging Het
Daxx G A 17: 34,130,338 (GRCm39) V118I probably damaging Het
Dennd5a G T 7: 109,533,472 (GRCm39) C75* probably null Het
Diaph3 A G 14: 87,009,566 (GRCm39) L1071P probably damaging Het
Disp3 A G 4: 148,338,765 (GRCm39) L802P possibly damaging Het
Dmc1 A G 15: 79,473,024 (GRCm39) V141A probably benign Het
Dsc2 A T 18: 20,168,520 (GRCm39) Y45* probably null Het
Dspp A G 5: 104,323,900 (GRCm39) I348V probably benign Het
Epb42 C A 2: 120,856,260 (GRCm39) C428F possibly damaging Het
Fam227a G T 15: 79,527,551 (GRCm39) P100Q possibly damaging Het
Fer1l4 C T 2: 155,890,170 (GRCm39) V252I probably benign Het
Fhod1 C A 8: 106,058,273 (GRCm39) probably null Het
Gatm T C 2: 122,428,677 (GRCm39) D328G probably benign Het
Gm6401 G T 14: 41,789,727 (GRCm39) H44N probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpr84 G A 15: 103,216,937 (GRCm39) A380V probably damaging Het
Herc1 G T 9: 66,379,190 (GRCm39) W3492L probably damaging Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Jag2 T A 12: 112,883,742 (GRCm39) K246N probably damaging Het
Klhl32 T C 4: 24,629,195 (GRCm39) D524G probably null Het
Lax1 A G 1: 133,608,334 (GRCm39) S136P possibly damaging Het
Lefty1 A G 1: 180,764,725 (GRCm39) K217E probably benign Het
Lgr5 A G 10: 115,314,430 (GRCm39) L169P probably damaging Het
Lrrc37 G C 11: 103,511,478 (GRCm39) N163K unknown Het
Mad1l1 A T 5: 140,300,810 (GRCm39) S29T possibly damaging Het
Man1a T C 10: 53,950,891 (GRCm39) H77R probably benign Het
Met C T 6: 17,558,732 (GRCm39) S1120F probably damaging Het
Mfsd4b2 A T 10: 39,797,605 (GRCm39) I250N probably damaging Het
Myod1 A G 7: 46,026,305 (GRCm39) H70R possibly damaging Het
Neb T C 2: 52,102,704 (GRCm39) N4280S probably benign Het
Nudt6 T C 3: 37,473,638 (GRCm39) T28A possibly damaging Het
Nup85 A G 11: 115,474,560 (GRCm39) E628G probably damaging Het
Oaz3 A T 3: 94,342,295 (GRCm39) D120E probably damaging Het
Or2y3 A T 17: 38,393,620 (GRCm39) M83K probably damaging Het
Or5b102 A T 19: 13,040,709 (GRCm39) probably benign Het
Or5be3 C T 2: 86,863,633 (GRCm39) A311T probably benign Het
Or5m8 C A 2: 85,822,285 (GRCm39) N41K probably damaging Het
Or6c1b A C 10: 129,272,812 (GRCm39) I44L probably damaging Het
Osbpl8 A T 10: 111,108,929 (GRCm39) K404* probably null Het
Pcdhga2 A G 18: 37,803,958 (GRCm39) N601D probably damaging Het
Pld2 T C 11: 70,445,501 (GRCm39) Y638H probably damaging Het
Pramel27 A G 4: 143,579,435 (GRCm39) Y340C probably damaging Het
Prickle2 C G 6: 92,435,596 (GRCm39) V2L possibly damaging Het
Psmd6 G A 14: 14,116,949 (GRCm38) R125C probably benign Het
Rnaset2b G A 17: 7,259,093 (GRCm39) V24I probably benign Het
Rusc2 A T 4: 43,416,416 (GRCm39) D574V probably benign Het
Scn8a T A 15: 100,837,996 (GRCm39) probably null Het
Sec11a T C 7: 80,572,879 (GRCm39) E134G probably benign Het
Senp5 A G 16: 31,808,702 (GRCm39) V157A probably damaging Het
Shkbp1 C T 7: 27,051,120 (GRCm39) probably null Het
Slc43a1 T C 2: 84,690,128 (GRCm39) L435P probably damaging Het
Spn G A 7: 126,735,895 (GRCm39) P204L possibly damaging Het
Srr T A 11: 74,801,028 (GRCm39) Q173L probably damaging Het
Star C G 8: 26,301,835 (GRCm39) T222S probably benign Het
Timm22 T A 11: 76,301,953 (GRCm39) Y93N probably damaging Het
Tmc4 G T 7: 3,678,458 (GRCm39) Q58K probably benign Het
Tmem86b C T 7: 4,632,835 (GRCm39) M1I probably null Het
Tmtc2 A T 10: 105,205,831 (GRCm39) I488N probably damaging Het
Tnxb A T 17: 34,913,362 (GRCm39) Y1792F probably damaging Het
Tph1 T A 7: 46,296,867 (GRCm39) R443W possibly damaging Het
Ttyh1 T A 7: 4,132,323 (GRCm39) V253E possibly damaging Het
Usf3 A G 16: 44,038,940 (GRCm39) D1140G probably benign Het
Usp10 T C 8: 120,668,055 (GRCm39) S118P probably benign Het
Vmn2r63 C T 7: 42,552,721 (GRCm39) C845Y probably benign Het
Vmn2r72 G T 7: 85,400,382 (GRCm39) F222L probably damaging Het
Zfp654 G A 16: 64,606,457 (GRCm39) Q582* probably null Het
Zfp791 C T 8: 85,846,279 (GRCm39) probably benign Het
Zfp879 T A 11: 50,729,302 (GRCm39) D32V 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 25,218,658 (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
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'- AGTATAGTCCCTCCTCCAGCTAG -3'
(R):5'- AAGTCCTTGCCTGATTCCAAG -3'

Sequencing Primer
(F):5'- TCCAGCTAGGTACCACAGTTTAGAG -3'
(R):5'- GTCCTTGCCTGATTCCAAGTAAATG -3'
Posted On 2018-04-27