Mutagenetix > Incidental Mutation

Incidental Mutation 'R1160:Fhod3'

100371

Institutional Source

Beutler Lab

Gene Symbol

Fhod3

Ensembl Gene

ENSMUSG00000034295

Gene Name

formin homology 2 domain containing 3

Synonyms

A930009H06Rik

MMRRC Submission

039233-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24841680-25266558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25118293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 210 (A210V)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037097]

AlphaFold

Q76LL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037097
AA Change: A210V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: A210V

Domain	Start	End	E-Value	Type
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

0.2398

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	G	T	1: 89,770,876 (GRCm39)	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,115,917 (GRCm39)		probably null	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
Astn1	T	C	1: 158,427,935 (GRCm39)	V702A	possibly damaging	Het
Bach1	T	C	16: 87,512,322 (GRCm39)	V15A	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,377,218 (GRCm39)	V774M	probably benign	Het
Dcaf5	T	C	12: 80,386,989 (GRCm39)	D379G	possibly damaging	Het
Dcpp1	T	A	17: 24,100,405 (GRCm39)	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,425,288 (GRCm39)	S128C	probably damaging	Het
Eml3	A	G	19: 8,910,614 (GRCm39)	N192S	probably benign	Het
Epha3	T	G	16: 63,593,431 (GRCm39)	D219A	probably damaging	Het
Khdc4	C	A	3: 88,616,169 (GRCm39)	P452Q	probably damaging	Het
Klhl5	A	G	5: 65,298,683 (GRCm39)	N154S	probably benign	Het
Lrif1	A	G	3: 106,640,033 (GRCm39)	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,271,864 (GRCm39)	N664S	probably benign	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,636,138 (GRCm39)		probably null	Het
Pole	A	G	5: 110,443,119 (GRCm39)	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,274,868 (GRCm39)	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,855,547 (GRCm39)	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,088,505 (GRCm39)	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,511,775 (GRCm39)	D82E	probably benign	Het
Slc19a3	A	C	1: 83,000,413 (GRCm39)	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,013,995 (GRCm39)	A401T	possibly damaging	Het
Snupn	T	G	9: 56,864,389 (GRCm39)	C29W	probably benign	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sox17	A	T	1: 4,562,075 (GRCm39)	V310E	probably damaging	Het
Srgap1	T	A	10: 121,691,382 (GRCm39)	Y284F	probably benign	Het
Srpk1	C	A	17: 28,818,748 (GRCm39)	V363F	probably benign	Het
Syt13	T	A	2: 92,773,387 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tal1	A	T	4: 114,925,813 (GRCm39)	D294V	probably damaging	Het
Tbl2	A	G	5: 135,188,246 (GRCm39)	T347A	probably benign	Het
Tet3	A	G	6: 83,381,434 (GRCm39)	S110P	probably benign	Het
Tmem132a	A	G	19: 10,835,938 (GRCm39)	V864A	probably damaging	Het
Trak1	T	C	9: 121,221,073 (GRCm39)	I80T	probably benign	Het
Trappc6b	G	A	12: 59,097,064 (GRCm39)	T86I	probably damaging	Het
Usf3	T	A	16: 44,038,910 (GRCm39)	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,340,231 (GRCm39)	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,936 (GRCm39)	V685E	probably damaging	Het
Zp2	A	T	7: 119,735,268 (GRCm39)	D368E	probably damaging	Het

Other mutations in Fhod3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Posted On

2014-01-15