Incidental Mutation 'R0483:Fhod3'
ID 42163
Institutional Source Beutler Lab
Gene Symbol Fhod3
Ensembl Gene ENSMUSG00000034295
Gene Name formin homology 2 domain containing 3
Synonyms A930009H06Rik
MMRRC Submission 038683-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0483 (G1)
Quality Score 214
Status Validated
Chromosome 18
Chromosomal Location 24841680-25266558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24842673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 3 (T3M)
Ref Sequence ENSEMBL: ENSMUSP00000041361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037097] [ENSMUST00000067987]
AlphaFold Q76LL6
Predicted Effect probably damaging
Transcript: ENSMUST00000037097
AA Change: T3M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: T3M

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
Predicted Effect probably benign
Transcript: ENSMUST00000067987
SMART Domains Protein: ENSMUSP00000070898
Gene: ENSMUSG00000054745

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Meta Mutation Damage Score 0.0956 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 99% (89/90)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009L16Rik G A 10: 83,595,502 (GRCm39) probably benign Het
1700048O20Rik A T 9: 121,769,769 (GRCm39) noncoding transcript Het
AA986860 A G 1: 130,671,562 (GRCm39) R595G probably damaging Het
Acrbp C A 6: 125,031,759 (GRCm39) F353L possibly damaging Het
Adamts20 T A 15: 94,251,452 (GRCm39) Q445L probably benign Het
Adgrg5 A G 8: 95,660,136 (GRCm39) D26G possibly damaging Het
Atad2b A T 12: 4,995,035 (GRCm39) probably benign Het
Atg2a G T 19: 6,306,631 (GRCm39) G1439C probably damaging Het
Atg2a G T 19: 6,306,632 (GRCm39) G1439V probably benign Het
B3galt1 G A 2: 67,948,932 (GRCm39) V216I probably benign Het
Bmerb1 T C 16: 13,913,803 (GRCm39) *113R probably null Het
C2cd2 A G 16: 97,660,788 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,564,025 (GRCm39) V884M probably damaging Het
Cers5 C A 15: 99,643,795 (GRCm39) C22F probably damaging Het
Ces1d C A 8: 93,924,307 (GRCm39) C14F probably benign Het
Cntn3 G T 6: 102,180,927 (GRCm39) P756Q probably damaging Het
Col4a1 T C 8: 11,286,423 (GRCm39) probably benign Het
Col5a3 A G 9: 20,693,777 (GRCm39) probably null Het
Cox5b G A 1: 36,731,636 (GRCm39) probably null Het
Cwc27 C A 13: 104,947,724 (GRCm39) probably null Het
Cyp27b1 A C 10: 126,886,026 (GRCm39) M260L probably benign Het
Ddx19b A T 8: 111,735,310 (GRCm39) N465K probably benign Het
Depdc1b T C 13: 108,510,382 (GRCm39) V298A probably benign Het
Dnaaf1 A G 8: 120,317,405 (GRCm39) I311M possibly damaging Het
Dnah17 T C 11: 117,937,950 (GRCm39) N3372S probably benign Het
Dus4l G A 12: 31,691,656 (GRCm39) T184I possibly damaging Het
Dzip3 T C 16: 48,768,076 (GRCm39) K453E possibly damaging Het
Galnt10 T C 11: 57,672,048 (GRCm39) L446P probably damaging Het
Gfod1 T A 13: 43,354,012 (GRCm39) D321V possibly damaging Het
Glt8d2 C A 10: 82,497,987 (GRCm39) probably benign Het
Gm11115 A G 5: 88,301,948 (GRCm39) M4T unknown Het
Gm11568 G A 11: 99,749,209 (GRCm39) C138Y unknown Het
Gm57859 C T 11: 113,580,021 (GRCm39) T472I possibly damaging Het
Gm9742 A G 13: 8,085,052 (GRCm39) noncoding transcript Het
Gnrhr G T 5: 86,345,434 (GRCm39) T84N probably damaging Het
Gpr176 C A 2: 118,110,204 (GRCm39) G352W probably damaging Het
Habp2 T C 19: 56,304,864 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Inpp5j C G 11: 3,449,738 (GRCm39) W681C probably damaging Het
Insl6 A G 19: 29,298,968 (GRCm39) M148T probably benign Het
Itgb1 T G 8: 129,452,648 (GRCm39) M771R possibly damaging Het
Kank1 G T 19: 25,403,357 (GRCm39) probably benign Het
Kcnd3 T C 3: 105,366,942 (GRCm39) Y271H probably damaging Het
Kcnq4 C A 4: 120,573,798 (GRCm39) R221L probably damaging Het
Klk1b26 G A 7: 43,665,772 (GRCm39) V195I probably benign Het
Lactb A C 9: 66,878,145 (GRCm39) V228G possibly damaging Het
Ldb3 T C 14: 34,258,541 (GRCm39) D649G probably damaging Het
Lilra6 T A 7: 3,916,138 (GRCm39) R240S probably benign Het
Lrp2 A G 2: 69,338,145 (GRCm39) Y1212H probably damaging Het
Mapk8ip1 A T 2: 92,216,321 (GRCm39) probably null Het
Mctp1 C T 13: 76,975,846 (GRCm39) L483F probably damaging Het
Mmp16 T C 4: 18,115,878 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,445,033 (GRCm39) L360* probably null Het
Myh4 A G 11: 67,143,123 (GRCm39) E1017G probably damaging Het
Nell1 A T 7: 49,879,928 (GRCm39) M307L probably benign Het
Or10al3 C T 17: 38,012,188 (GRCm39) A209V probably benign Het
Or10d1 A C 9: 39,484,139 (GRCm39) C139G probably damaging Het
Or5m11 A G 2: 85,781,587 (GRCm39) Y60C probably damaging Het
Or8k35 A G 2: 86,424,752 (GRCm39) V140A probably benign Het
Phc2 A G 4: 128,617,100 (GRCm39) probably benign Het
Pp2d1 C A 17: 53,814,999 (GRCm39) C575F probably benign Het
Ptpra T A 2: 130,381,605 (GRCm39) N364K probably damaging Het
R3hcc1l A G 19: 42,550,995 (GRCm39) probably benign Het
Rims1 A G 1: 22,507,263 (GRCm39) probably benign Het
Shank3 G A 15: 89,427,442 (GRCm39) probably benign Het
Sit1 T A 4: 43,482,991 (GRCm39) Q86L possibly damaging Het
Skint4 C A 4: 111,975,136 (GRCm39) probably benign Het
Skint8 G T 4: 111,796,020 (GRCm39) probably benign Het
Smim13 T C 13: 41,426,186 (GRCm39) I74T probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Spmap2l A G 5: 77,185,204 (GRCm39) probably benign Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Synpo2 T C 3: 122,907,981 (GRCm39) D445G probably damaging Het
Tas2r102 A T 6: 132,739,328 (GRCm39) I79F probably damaging Het
Tmc4 A G 7: 3,670,609 (GRCm39) L494P probably damaging Het
Togaram1 G T 12: 65,053,805 (GRCm39) V1412F probably damaging Het
Topors T C 4: 40,261,952 (GRCm39) D444G probably damaging Het
Trappc8 T A 18: 20,978,658 (GRCm39) I813F possibly damaging Het
Trim26 T C 17: 37,163,598 (GRCm39) probably benign Het
Unc13a T C 8: 72,097,557 (GRCm39) D1171G probably damaging Het
Usp7 A G 16: 8,517,126 (GRCm39) V245A probably damaging Het
Vmn1r38 T A 6: 66,753,979 (GRCm39) T46S probably benign Het
Vmn2r76 T C 7: 85,874,959 (GRCm39) T673A probably damaging Het
Zcchc14 T A 8: 122,355,388 (GRCm39) probably benign Het
Zfp451 T A 1: 33,809,991 (GRCm39) 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
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
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'- GCGCAAACGACTCTCGCATTCC -3'
(R):5'- TCTGCCTAAGCCTCAGTGGCAC -3'

Sequencing Primer
(F):5'- GAGGAGGAgggggcgag -3'
(R):5'- TCAGTGGCACTGCCCTTG -3'
Posted On 2013-05-23