Mutagenetix > Incidental Mutation

Incidental Mutation 'R4753:Fhod3'

357760

Institutional Source

Beutler Lab

Gene Symbol

Fhod3

Ensembl Gene

ENSMUSG00000034295

Gene Name

formin homology 2 domain containing 3

Synonyms

A930009H06Rik

MMRRC Submission

041971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24841680-25266558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25223382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 909 (K909N)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

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

AlphaFold

Q76LL6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037097
AA Change: K909N

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: K909N

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

0.0628

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (57/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	A	13: 112,500,009 (GRCm39)	D257E	probably benign	Het
Arhgef18	T	C	8: 3,494,938 (GRCm39)	V399A	probably damaging	Het
Atp8b5	C	T	4: 43,372,710 (GRCm39)	P1117S	probably damaging	Het
Cd48	A	G	1: 171,527,156 (GRCm39)	Q194R	probably damaging	Het
Cdk13	G	A	13: 17,937,833 (GRCm39)	R737C	probably damaging	Het
Clasrp	A	T	7: 19,328,865 (GRCm39)	I89N	probably damaging	Het
Clrn1	G	T	3: 58,792,318 (GRCm39)	N48K	probably damaging	Het
Cntrl	T	A	2: 35,043,451 (GRCm39)	V1313E	possibly damaging	Het
Cyld	T	A	8: 89,471,444 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dtl	T	C	1: 191,301,815 (GRCm39)	T81A	probably damaging	Het
Dus1l	C	T	11: 120,682,901 (GRCm39)	E299K	probably benign	Het
E130114P18Rik	A	T	4: 97,463,129 (GRCm39)	D14E	possibly damaging	Het
Fam83g	C	A	11: 61,586,095 (GRCm39)	H228N	probably damaging	Het
Fign	T	A	2: 63,809,363 (GRCm39)	I636L	probably benign	Het
Foxm1	A	G	6: 128,349,519 (GRCm39)	E346G	probably null	Het
Gcc2	T	C	10: 58,126,204 (GRCm39)	Y1271H	probably benign	Het
Gcn1	T	C	5: 115,754,537 (GRCm39)	V2379A	probably benign	Het
Grin2d	G	T	7: 45,483,330 (GRCm39)	P949Q	probably damaging	Het
Ighv1-43	C	A	12: 114,909,762 (GRCm39)	M53I	probably benign	Het
Itgad	A	G	7: 127,822,875 (GRCm39)	*97W	probably null	Het
Jade1	C	T	3: 41,551,106 (GRCm39)	R2*	probably null	Het
Lama3	G	T	18: 12,615,141 (GRCm39)	C1355F	probably damaging	Het
Map3k13	T	C	16: 21,710,752 (GRCm39)	S12P	probably benign	Het
Masp2	A	G	4: 148,696,608 (GRCm39)	T402A	probably benign	Het
Mill1	A	C	7: 17,996,472 (GRCm39)	K96T	probably benign	Het
Muc19	T	G	15: 91,761,955 (GRCm39)		noncoding transcript	Het
Muc5b	C	A	7: 141,410,590 (GRCm39)	T1321N	unknown	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or1ad1	T	C	11: 50,875,978 (GRCm39)	V150A	probably benign	Het
Or1e35	T	A	11: 73,797,677 (GRCm39)	I214F	probably damaging	Het
Pdgfra	C	T	5: 75,342,185 (GRCm39)	P669S	probably damaging	Het
Procr	A	G	2: 155,595,384 (GRCm39)	N63D	probably damaging	Het
Prrc2c	A	G	1: 162,518,799 (GRCm39)	S2136P	probably damaging	Het
Rab11fip1	T	C	8: 27,642,769 (GRCm39)	M677V	probably benign	Het
Rad52	T	A	6: 119,889,946 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,436,509 (GRCm39)		probably null	Het
Rogdi	T	C	16: 4,828,363 (GRCm39)	T189A	probably damaging	Het
Rph3al	G	A	11: 75,799,845 (GRCm39)	T38M	probably damaging	Het
Rps6ka2	T	A	17: 7,566,707 (GRCm39)	V655E	possibly damaging	Het
Sik3	T	C	9: 46,109,512 (GRCm39)	F499L	probably damaging	Het
Skint4	A	G	4: 112,003,728 (GRCm39)	N387S	probably benign	Het
Slc6a12	C	T	6: 121,333,862 (GRCm39)		probably benign	Het
Stk36	A	G	1: 74,665,255 (GRCm39)	T667A	probably benign	Het
Svep1	T	C	4: 58,053,212 (GRCm39)	I3378V	probably benign	Het
Thnsl1	C	T	2: 21,218,175 (GRCm39)	T122I	probably damaging	Het
Timeless	G	A	10: 128,075,889 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,914,909 (GRCm39)	V1966I	possibly damaging	Het
Tril	A	G	6: 53,796,698 (GRCm39)	F175L	probably damaging	Het
Vav1	A	G	17: 57,613,140 (GRCm39)	Y604C	probably damaging	Het
Zfp423	T	A	8: 88,508,074 (GRCm39)	M736L	probably benign	Het
Zscan10	A	C	17: 23,826,208 (GRCm39)	E123D	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
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
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'- AGCAAAAGGTTCATGCTGGAC -3'
(R):5'- GGTCTGTGAAATCCATGTCTTG -3'

Sequencing Primer
(F):5'- GGACATGCTGTATGCCCATAACAG -3'
(R):5'- TGGATTCTGAGCTCCCTCGG -3'

Posted On

2015-11-11