Incidental Mutation 'R0570:Fhod3'
ID 46419
Institutional Source Beutler Lab
Gene Symbol Fhod3
Ensembl Gene ENSMUSG00000034295
Gene Name formin homology 2 domain containing 3
Synonyms A930009H06Rik
MMRRC Submission 038761-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0570 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 24841680-25266558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25245640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1230 (I1230T)
Ref Sequence ENSEMBL: ENSMUSP00000041361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037097]
AlphaFold Q76LL6
Predicted Effect probably benign
Transcript: ENSMUST00000037097
AA Change: I1230T

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: I1230T

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 0.1106 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (85/85)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik C A 8: 84,729,733 (GRCm39) probably benign Het
Aadacl3 C T 4: 144,190,130 (GRCm39) W57* probably null Het
Abca2 G T 2: 25,337,417 (GRCm39) probably null Het
Abca3 A G 17: 24,593,373 (GRCm39) I257V probably benign Het
Adamts2 A G 11: 50,666,963 (GRCm39) D420G probably damaging Het
Adamts5 A G 16: 85,696,135 (GRCm39) F341L probably damaging Het
Ahnak T A 19: 8,991,062 (GRCm39) D4115E probably damaging Het
Arhgap20 T C 9: 51,751,751 (GRCm39) S365P possibly damaging Het
Atrn G A 2: 130,822,054 (GRCm39) V916I probably benign Het
Blmh T C 11: 76,856,651 (GRCm39) V82A probably damaging Het
C1ra A T 6: 124,490,664 (GRCm39) Y19F probably benign Het
Cactin A G 10: 81,159,067 (GRCm39) E306G probably damaging Het
Celsr1 C T 15: 85,787,566 (GRCm39) R2724Q probably benign Het
Clca4b T C 3: 144,631,110 (GRCm39) E250G probably benign Het
Col17a1 A T 19: 47,654,317 (GRCm39) S647T possibly damaging Het
Cope T A 8: 70,759,181 (GRCm39) D74E probably damaging Het
Dsg1c T C 18: 20,403,435 (GRCm39) I198T probably damaging Het
Elfn2 T C 15: 78,557,434 (GRCm39) N371S probably damaging Het
Elmo2 G T 2: 165,146,839 (GRCm39) A246D probably benign Het
Ewsr1 A T 11: 5,035,935 (GRCm39) M187K possibly damaging Het
Faap100 A T 11: 120,265,114 (GRCm39) S587R possibly damaging Het
Fam234b C T 6: 135,186,247 (GRCm39) S85L probably benign Het
Fanca A T 8: 124,033,169 (GRCm39) S292R probably benign Het
Fanci G A 7: 79,093,711 (GRCm39) C1021Y probably damaging Het
Fmo5 T C 3: 97,536,456 (GRCm39) L27S probably damaging Het
Fmo9 A G 1: 166,502,031 (GRCm39) V147A probably null Het
Fnbp4 A G 2: 90,583,301 (GRCm39) Y309C probably damaging Het
Foxb1 T C 9: 69,666,844 (GRCm39) T229A probably benign Het
Gapvd1 A G 2: 34,618,552 (GRCm39) Y274H probably damaging Het
Gbp8 T C 5: 105,165,541 (GRCm39) probably null Het
Gcn1 T A 5: 115,730,480 (GRCm39) L888Q probably damaging Het
Gm17490 T C 2: 11,630,460 (GRCm39) probably benign Het
Gtf2ird2 T A 5: 134,237,785 (GRCm39) probably null Het
H2-Q1 A G 17: 35,540,373 (GRCm39) T153A possibly damaging Het
Ina A C 19: 47,011,938 (GRCm39) E452A probably benign Het
Kars1 A G 8: 112,721,494 (GRCm39) probably null Het
Kif1c A G 11: 70,595,291 (GRCm39) E124G probably damaging Het
Lpin3 T C 2: 160,745,944 (GRCm39) probably benign Het
Lrp1 A T 10: 127,390,878 (GRCm39) C3006* probably null Het
Lyst T C 13: 13,883,971 (GRCm39) L2953P probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Melk T C 4: 44,308,906 (GRCm39) Y88H probably damaging Het
Myrf A G 19: 10,189,161 (GRCm39) S857P probably damaging Het
Nos2 A G 11: 78,826,187 (GRCm39) I153M possibly damaging Het
Or4n4 T G 14: 50,519,370 (GRCm39) L113F probably benign Het
Otof A G 5: 30,529,225 (GRCm39) probably benign Het
Patl2 A G 2: 121,955,789 (GRCm39) V249A probably damaging Het
Pcgf5 A G 19: 36,389,580 (GRCm39) Y19C probably benign Het
Pcnt A T 10: 76,247,941 (GRCm39) V951E probably damaging Het
Pcolce2 T C 9: 95,520,710 (GRCm39) V29A probably benign Het
Pdgfrb A T 18: 61,210,775 (GRCm39) M761L probably benign Het
Pi16 A T 17: 29,538,189 (GRCm39) M1L possibly damaging Het
Pkd2 T A 5: 104,603,471 (GRCm39) probably benign Het
Plcb2 A G 2: 118,547,806 (GRCm39) W474R probably benign Het
Psapl1 A G 5: 36,361,624 (GRCm39) D72G possibly damaging Het
Ptpn5 T A 7: 46,728,681 (GRCm39) probably benign Het
Ptprg A G 14: 12,215,896 (GRCm38) E1115G probably damaging Het
Rassf1 C T 9: 107,435,165 (GRCm39) T224I probably damaging Het
Rbpms2 T A 9: 65,566,476 (GRCm39) C168* probably null Het
Rhag A G 17: 41,139,804 (GRCm39) probably benign Het
Rhebl1 C T 15: 98,779,034 (GRCm39) V17I probably benign Het
Rnf130 A T 11: 49,986,703 (GRCm39) D349V possibly damaging Het
Rprd1a A G 18: 24,642,952 (GRCm39) L60P probably damaging Het
Rspry1 T C 8: 95,356,420 (GRCm39) I25T probably damaging Het
Ruvbl2 C T 7: 45,071,621 (GRCm39) V421M probably damaging Het
Sap30 T C 8: 57,936,000 (GRCm39) N209D possibly damaging Het
Sfswap T C 5: 129,581,042 (GRCm39) probably benign Het
Slc1a2 G A 2: 102,586,352 (GRCm39) V319M probably damaging Het
Smad2 T C 18: 76,422,250 (GRCm39) probably benign Het
Spdya T C 17: 71,869,585 (GRCm39) probably null Het
Stk39 G A 2: 68,240,392 (GRCm39) T113M probably damaging Het
Tanc1 A G 2: 59,626,382 (GRCm39) probably benign Het
Tas2r122 T C 6: 132,688,774 (GRCm39) K40E probably damaging Het
Tph2 G T 10: 115,010,039 (GRCm39) probably benign Het
Trip12 G A 1: 84,729,269 (GRCm39) S1083F probably damaging Het
Tsc2 A T 17: 24,845,701 (GRCm39) C206S probably damaging Het
Tsc22d4 A G 5: 137,760,681 (GRCm39) Q34R possibly damaging Het
Uroc1 G T 6: 90,315,546 (GRCm39) M142I possibly damaging Het
Uso1 T C 5: 92,347,682 (GRCm39) S766P probably benign Het
Usp21 G A 1: 171,111,319 (GRCm39) probably benign Het
Usp48 T A 4: 137,360,437 (GRCm39) I658K possibly damaging Het
Vmn1r206 T C 13: 22,804,583 (GRCm39) H208R probably damaging Het
Vmn2r109 C T 17: 20,760,937 (GRCm39) A807T probably damaging Het
Zfp329 A T 7: 12,544,379 (GRCm39) C382S probably damaging Het
Zfp341 A G 2: 154,487,988 (GRCm39) E817G probably benign 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
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
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'- GAGAGAGCAAGCAGTCTTCACTCC -3'
(R):5'- GTACAGCTCCATCAGTATGCGACG -3'

Sequencing Primer
(F):5'- TATCTAGGACCAAATGCCTGTC -3'
(R):5'- TCAGTATGCGACGGCAGAG -3'
Posted On 2013-06-11