Incidental Mutation 'IGL02192:Fhod3'
ID283932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhod3
Ensembl Gene ENSMUSG00000034295
Gene Nameformin homology 2 domain containing 3
SynonymsA930009H06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02192
Quality Score
Status
Chromosome18
Chromosomal Location24709445-25133500 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25056358 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 619 (L619P)
Ref Sequence ENSEMBL: ENSMUSP00000041361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037097]
Predicted Effect probably damaging
Transcript: ENSMUST00000037097
AA Change: L619P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: L619P

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,898,400 M545K possibly damaging Het
Adamtsl1 A G 4: 86,228,016 E303G probably damaging Het
Anxa13 A T 15: 58,348,780 noncoding transcript Het
Ap2b1 C T 11: 83,346,766 T552I possibly damaging Het
Cars T C 7: 143,571,588 S388G probably damaging Het
Cdh18 A T 15: 23,460,316 D544V probably damaging Het
Chat T C 14: 32,423,322 R377G possibly damaging Het
Col14a1 A G 15: 55,362,402 T154A unknown Het
Col9a1 C T 1: 24,221,987 P311S probably damaging Het
Cpsf3 G T 12: 21,310,193 probably benign Het
Cpsf3 G T 12: 21,310,196 probably null Het
Dock8 T C 19: 25,078,205 probably null Het
Eml6 A G 11: 29,805,743 I837T probably benign Het
Epb41 T C 4: 131,929,717 T792A probably damaging Het
Exph5 A T 9: 53,376,325 R1569* probably null Het
F13b A T 1: 139,517,333 T574S probably damaging Het
Fam160a1 A G 3: 85,673,326 L524P possibly damaging Het
Fam184b G T 5: 45,537,720 D727E probably benign Het
Fsd1l A G 4: 53,647,754 I66V probably benign Het
Fv1 A G 4: 147,870,255 D426G possibly damaging Het
Gm3371 A T 14: 44,403,778 probably benign Het
Hnf1a A T 5: 114,960,118 S142T probably damaging Het
Itgb3 A G 11: 104,643,939 I541V probably benign Het
Itgbl1 G T 14: 123,843,926 C239F probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Larp1b G T 3: 40,967,494 S116I probably benign Het
Lmtk3 A G 7: 45,794,509 probably benign Het
Mapk10 T C 5: 102,989,647 I235V probably damaging Het
Mctp1 C T 13: 76,731,768 probably benign Het
Megf8 G A 7: 25,353,860 D1819N probably damaging Het
Muc6 T C 7: 141,637,804 T2254A possibly damaging Het
Nbr1 T A 11: 101,569,591 S444T probably damaging Het
Ncor2 A T 5: 125,024,237 D1956E probably damaging Het
Ndufaf5 T C 2: 140,188,743 V183A probably benign Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Npy5r T A 8: 66,681,346 H265L probably benign Het
Olfr1008 G A 2: 85,690,128 G233D possibly damaging Het
Olfr418 T A 1: 173,270,850 L225H probably damaging Het
Pop1 A G 15: 34,529,071 E749G probably benign Het
Ppil3 T C 1: 58,438,388 I66V probably damaging Het
Prl4a1 C A 13: 28,018,571 T43K possibly damaging Het
Prop1 A G 11: 50,953,286 probably benign Het
Qrsl1 A T 10: 43,885,014 I218N probably damaging Het
Rbm22 T A 18: 60,564,412 M63K possibly damaging Het
Rictor T C 15: 6,786,414 S1056P probably benign Het
Rps6kb2 T C 19: 4,157,588 T388A probably damaging Het
Slc7a5 A G 8: 121,886,390 probably benign Het
Sp100 A T 1: 85,708,001 D509V probably damaging Het
Spata18 G T 5: 73,672,518 probably null Het
Sspo C A 6: 48,459,568 T1254K possibly damaging Het
Stk19 A G 17: 34,832,158 probably benign Het
Taar8b T A 10: 24,091,364 I311F probably damaging Het
Themis2 C A 4: 132,783,347 probably null Het
Tll2 T C 19: 41,086,263 Y937C possibly damaging Het
Trim34a T A 7: 104,247,732 M1K probably null Het
Usp50 G A 2: 126,778,038 T118I possibly damaging Het
Vps13d G A 4: 145,148,858 S1693F probably benign Het
Vps16 T A 2: 130,440,932 I467N probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Fhod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Fhod3 APN 18 24994540 missense probably damaging 1.00
IGL01139:Fhod3 APN 18 25066344 missense probably benign 0.00
IGL01293:Fhod3 APN 18 25020652 splice site probably benign
IGL01313:Fhod3 APN 18 25020720 missense probably damaging 1.00
IGL01524:Fhod3 APN 18 25130602 missense probably damaging 0.99
IGL01568:Fhod3 APN 18 25120162 missense probably benign 0.04
IGL01586:Fhod3 APN 18 25090747 missense probably damaging 0.98
IGL01622:Fhod3 APN 18 25022867 missense probably benign 0.35
IGL01623:Fhod3 APN 18 25022867 missense probably benign 0.35
IGL01640:Fhod3 APN 18 25115793 missense probably benign 0.13
IGL01860:Fhod3 APN 18 24897681 missense probably damaging 0.99
IGL01860:Fhod3 APN 18 24903948 missense probably damaging 1.00
IGL02390:Fhod3 APN 18 25066275 missense probably benign 0.15
IGL02550:Fhod3 APN 18 25022960 missense probably benign 0.00
IGL02987:Fhod3 APN 18 25113553 missense possibly damaging 0.87
R0328:Fhod3 UTSW 18 25113600 missense probably benign 0.01
R0362:Fhod3 UTSW 18 25090076 nonsense probably null
R0373:Fhod3 UTSW 18 25090104 missense possibly damaging 0.93
R0483:Fhod3 UTSW 18 24709616 missense probably damaging 1.00
R0570:Fhod3 UTSW 18 25112583 missense probably benign 0.27
R0617:Fhod3 UTSW 18 25112679 splice site probably benign
R0834:Fhod3 UTSW 18 25115805 nonsense probably null
R0836:Fhod3 UTSW 18 25066218 missense probably damaging 1.00
R1132:Fhod3 UTSW 18 25020665 small deletion probably benign
R1157:Fhod3 UTSW 18 24985236 missense probably damaging 1.00
R1158:Fhod3 UTSW 18 24985236 missense probably damaging 1.00
R1160:Fhod3 UTSW 18 24985236 missense probably damaging 1.00
R1381:Fhod3 UTSW 18 25090471 missense probably damaging 1.00
R1533:Fhod3 UTSW 18 25115864 missense probably damaging 1.00
R1621:Fhod3 UTSW 18 25022867 missense probably benign 0.35
R1748:Fhod3 UTSW 18 24770493 nonsense probably null
R1757:Fhod3 UTSW 18 25066278 missense possibly damaging 0.78
R1758:Fhod3 UTSW 18 25120310 missense possibly damaging 0.88
R1872:Fhod3 UTSW 18 25130610 missense probably damaging 1.00
R1911:Fhod3 UTSW 18 25112586 missense possibly damaging 0.81
R1917:Fhod3 UTSW 18 24989965 splice site probably benign
R1917:Fhod3 UTSW 18 25085601 missense probably benign 0.27
R1934:Fhod3 UTSW 18 25090278 missense probably benign 0.35
R1958:Fhod3 UTSW 18 25090465 missense probably damaging 1.00
R1997:Fhod3 UTSW 18 25090416 missense possibly damaging 0.79
R3618:Fhod3 UTSW 18 25020665 small deletion probably benign
R3709:Fhod3 UTSW 18 25090758 missense probably damaging 1.00
R3937:Fhod3 UTSW 18 25090761 missense probably benign 0.44
R4246:Fhod3 UTSW 18 24990066 missense probably null 1.00
R4248:Fhod3 UTSW 18 24990066 missense probably null 1.00
R4249:Fhod3 UTSW 18 24990066 missense probably null 1.00
R4497:Fhod3 UTSW 18 25110239 critical splice donor site probably null
R4498:Fhod3 UTSW 18 25110239 critical splice donor site probably null
R4532:Fhod3 UTSW 18 25110221 missense probably damaging 1.00
R4596:Fhod3 UTSW 18 25115718 missense probably benign 0.01
R4628:Fhod3 UTSW 18 25120129 missense possibly damaging 0.94
R4667:Fhod3 UTSW 18 25066338 missense probably benign 0.00
R4668:Fhod3 UTSW 18 25066338 missense probably benign 0.00
R4734:Fhod3 UTSW 18 25028135 missense probably benign 0.00
R4753:Fhod3 UTSW 18 25090325 missense possibly damaging 0.80
R4796:Fhod3 UTSW 18 24985301 missense probably damaging 1.00
R4832:Fhod3 UTSW 18 25090248 missense probably benign 0.00
R5338:Fhod3 UTSW 18 25028081 missense probably damaging 0.96
R5832:Fhod3 UTSW 18 25090695 missense probably damaging 1.00
R5863:Fhod3 UTSW 18 25125753 missense probably benign 0.25
R6362:Fhod3 UTSW 18 24754255 missense probably benign 0.00
R6414:Fhod3 UTSW 18 25090878 missense possibly damaging 0.64
R7099:Fhod3 UTSW 18 25090162 missense probably benign
R7172:Fhod3 UTSW 18 25085546 missense probably damaging 1.00
R7190:Fhod3 UTSW 18 25090755 missense probably damaging 1.00
R7241:Fhod3 UTSW 18 25060352 missense probably damaging 1.00
R7294:Fhod3 UTSW 18 25132980 missense probably damaging 1.00
R7348:Fhod3 UTSW 18 25090467 missense possibly damaging 0.80
R7432:Fhod3 UTSW 18 25001909 missense possibly damaging 0.95
R7588:Fhod3 UTSW 18 25090248 missense probably benign 0.02
R7629:Fhod3 UTSW 18 24754317 missense probably benign 0.08
R7667:Fhod3 UTSW 18 25001944 missense probably benign
R7681:Fhod3 UTSW 18 24990038 missense probably damaging 1.00
Posted On2015-04-16