Incidental Mutation 'R7172:Fhod3'
ID 558384
Institutional Source Beutler Lab
Gene Symbol Fhod3
Ensembl Gene ENSMUSG00000034295
Gene Name formin homology 2 domain containing 3
Synonyms A930009H06Rik
MMRRC Submission 045264-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7172 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 24841680-25266558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25218603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 789 (S789P)
Ref Sequence ENSEMBL: ENSMUSP00000041361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037097]
AlphaFold Q76LL6
Predicted Effect probably damaging
Transcript: ENSMUST00000037097
AA Change: S789P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: S789P

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 0.1876 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (74/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA467197 A T 2: 122,480,238 (GRCm39) Y33F probably damaging Het
Abca4 C T 3: 121,897,189 (GRCm39) Q623* probably null Het
Abcb1a A T 5: 8,752,399 (GRCm39) I457F probably benign Het
Abcb9 G A 5: 124,200,869 (GRCm39) Q716* probably null Het
Abhd15 T C 11: 77,406,122 (GRCm39) V33A probably benign Het
Abl2 A G 1: 156,450,157 (GRCm39) D108G probably damaging Het
Adamts3 G A 5: 90,030,860 (GRCm39) probably benign Het
Atmin G T 8: 117,683,281 (GRCm39) V314L probably damaging Het
Axl G T 7: 25,486,399 (GRCm39) Q102K probably benign Het
Cdhr5 A G 7: 140,851,841 (GRCm39) S488P possibly damaging Het
Cnn1 C A 9: 22,016,790 (GRCm39) A126D probably damaging Het
Col25a1 A T 3: 130,363,981 (GRCm39) K537* probably null Het
Cxcl2 A G 5: 91,051,879 (GRCm39) T26A probably benign Het
Dcc T C 18: 71,511,755 (GRCm39) T887A probably benign Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dnah17 T A 11: 117,931,957 (GRCm39) K3672* probably null Het
Fadd G T 7: 144,135,908 (GRCm39) H73Q probably benign Het
Fancm A G 12: 65,152,828 (GRCm39) N1095D possibly damaging Het
Glis2 G A 16: 4,431,339 (GRCm39) V289I probably benign Het
Gm17728 A C 17: 9,641,220 (GRCm39) D110A probably damaging Het
Gm9602 T A 14: 15,933,429 (GRCm39) S45T possibly damaging Het
Gpr137 A G 19: 6,917,049 (GRCm39) S161P possibly damaging Het
Gpr89 C T 3: 96,787,385 (GRCm39) probably null Het
Gps2 C T 11: 69,807,262 (GRCm39) T306I probably benign Het
Hmcn1 A G 1: 150,629,450 (GRCm39) Y936H possibly damaging Het
Hoxa5 A G 6: 52,181,276 (GRCm39) Y19H probably damaging Het
Ifit2 G T 19: 34,550,894 (GRCm39) A145S probably benign Het
Impdh2 G T 9: 108,437,809 (GRCm39) C26F probably benign Het
Kcnh6 T C 11: 105,911,100 (GRCm39) Y552H possibly damaging Het
Kcnma1 A T 14: 23,576,691 (GRCm39) M254K probably damaging Het
Klhdc9 A T 1: 171,188,228 (GRCm39) M1K probably null Het
Klk1b11 A T 7: 43,648,671 (GRCm39) D194V possibly damaging Het
Lama1 A G 17: 68,111,540 (GRCm39) I2264V Het
Lmntd2 A G 7: 140,793,554 (GRCm39) S111P unknown Het
Megf8 T C 7: 25,043,092 (GRCm39) L1338P probably damaging Het
Mipol1 G A 12: 57,372,321 (GRCm39) E127K possibly damaging Het
Mmp25 A T 17: 23,863,762 (GRCm39) C23S probably benign Het
Mup8 A T 4: 60,222,425 (GRCm39) C15* probably null Het
Myh2 A T 11: 67,079,527 (GRCm39) T995S probably benign Het
Myo1d C T 11: 80,483,621 (GRCm39) V863I probably benign Het
N4bp1 A G 8: 87,587,052 (GRCm39) probably null Het
Nat10 G T 2: 103,563,314 (GRCm39) P562T probably damaging Het
Nedd9 C G 13: 41,470,280 (GRCm39) R291P probably benign Het
Nlrc3 G T 16: 3,781,617 (GRCm39) H613Q probably benign Het
Ntn1 A T 11: 68,276,493 (GRCm39) C152S probably damaging Het
Or2av9 T A 11: 58,380,571 (GRCm39) I337F unknown Het
Pam A T 1: 97,762,203 (GRCm39) D793E probably benign Het
Patz1 T G 11: 3,258,032 (GRCm39) V631G probably benign Het
Pcdh15 G A 10: 74,338,597 (GRCm39) V1068M probably damaging Het
Pramel17 A G 4: 101,694,193 (GRCm39) V230A probably benign Het
Prmt5 A G 14: 54,752,343 (GRCm39) F151S possibly damaging Het
Pygo2 G A 3: 89,339,943 (GRCm39) V114I probably benign Het
Rabgap1l A T 1: 160,561,156 (GRCm39) S220R probably benign Het
Rdh7 T G 10: 127,724,218 (GRCm39) S89R possibly damaging Het
Rgsl1 A C 1: 153,701,966 (GRCm39) W163G possibly damaging Het
Ryr3 T A 2: 112,492,002 (GRCm39) N3783I probably damaging Het
Shld2 G A 14: 33,959,525 (GRCm39) T819I probably damaging Het
Slit1 A G 19: 41,623,105 (GRCm39) L644P probably damaging Het
Steap2 A G 5: 5,732,896 (GRCm39) S43P possibly damaging Het
Susd1 A T 4: 59,315,420 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,981,390 (GRCm39) M686V probably damaging Het
Tdrp G A 8: 14,024,579 (GRCm39) R22* probably null Het
Tmem245 A G 4: 56,903,946 (GRCm39) V598A possibly damaging Het
Tnxb A G 17: 34,914,994 (GRCm39) E1994G probably damaging Het
Trcg1 T A 9: 57,155,618 (GRCm39) V757E probably benign Het
Trim10 A G 17: 37,180,955 (GRCm39) E62G possibly damaging Het
Ushbp1 G T 8: 71,841,410 (GRCm39) A473E possibly damaging Het
Vmn1r50 A C 6: 90,084,386 (GRCm39) K44Q possibly damaging Het
Wdr75 A G 1: 45,838,294 (GRCm39) N68D probably damaging Het
Wdr83 A G 8: 85,806,453 (GRCm39) V115A probably damaging Het
Zdhhc17 A G 10: 110,845,809 (GRCm39) L28P possibly damaging Het
Zfp738 C T 13: 67,818,527 (GRCm39) C488Y probably damaging Het
Zfp987 T G 4: 146,058,572 (GRCm39) L50W probably damaging Het
Zfyve28 G T 5: 34,391,753 (GRCm39) R133S probably benign Het
Zscan20 G T 4: 128,479,469 (GRCm39) C1007* probably null 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
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
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'- TACTCTTGTCTCCATCAGTAAGTGG -3'
(R):5'- AACTGAGGGAGTGAGCAGTTCC -3'

Sequencing Primer
(F):5'- TGTCTCCATCAGTAAGTGGTAAGGAC -3'
(R):5'- AGTGAGCAGTTCCCACAGTTC -3'
Posted On 2019-06-26