Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01568:Fhod3'

91034

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fhod3

Ensembl Gene

ENSMUSG00000034295

Gene Name

formin homology 2 domain containing 3

Synonyms

A930009H06Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01568

Quality Score

Status

Chromosome

Chromosomal Location

24709445-25133500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25120162 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1390 (I1390V)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037097
AA Change: I1390V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: I1390V

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,573,698		probably benign	Het
Akap13	T	A	7: 75,608,522	L298*	probably null	Het
Capn15	G	T	17: 25,965,445	R21S	probably damaging	Het
Cbs	A	G	17: 31,621,514	L290P	possibly damaging	Het
Dnah5	T	C	15: 28,229,652	I144T	probably benign	Het
Dok4	T	A	8: 94,866,802	I119F	probably benign	Het
Dpp9	T	C	17: 56,191,159	N599S	probably benign	Het
Ep400	T	C	5: 110,719,495	T984A	unknown	Het
Fcrls	T	C	3: 87,256,679	N381S	probably damaging	Het
Gabbr1	A	G	17: 37,070,669	Y775C	probably damaging	Het
Gimap9	A	G	6: 48,677,616	T46A	probably benign	Het
Gm3696	T	C	14: 7,089,819	N88S	probably benign	Het
Gm5277	A	G	3: 78,892,436		noncoding transcript	Het
Gpr153	C	A	4: 152,282,368		probably null	Het
Hgf	A	T	5: 16,564,814	K95N	probably damaging	Het
Igf2r	A	G	17: 12,683,985	S2393P	possibly damaging	Het
Ikbke	C	A	1: 131,257,896		probably null	Het
Il17re	G	T	6: 113,470,052	R588L	probably damaging	Het
Itch	T	C	2: 155,212,462		probably benign	Het
Krt2	T	A	15: 101,813,211	D465V	probably damaging	Het
Krt28	G	T	11: 99,371,417	P249Q	probably damaging	Het
Lax1	A	T	1: 133,680,300	D234E	probably benign	Het
Mtmr3	A	G	11: 4,527,861	I61T	probably damaging	Het
Naip5	G	T	13: 100,217,101	Q1217K	probably benign	Het
Nt5dc3	A	G	10: 86,833,938	T466A	probably benign	Het
Olfr1350	A	T	7: 6,570,570	H193L	possibly damaging	Het
Olfr283	T	C	15: 98,378,906	D68G	probably damaging	Het
Pcdhb3	T	C	18: 37,302,001	V340A	possibly damaging	Het
Pclo	C	T	5: 14,678,429		probably benign	Het
Piezo2	C	T	18: 63,030,392	V2152I	probably benign	Het
Pip4k2b	A	T	11: 97,729,552		probably null	Het
Ptprs	G	A	17: 56,413,958	H1432Y	probably damaging	Het
Rars	A	G	11: 35,825,981		probably benign	Het
Scrn1	A	G	6: 54,522,754		probably benign	Het
Sdr42e1	T	C	8: 117,663,443	Y153C	probably damaging	Het
Slc18a1	A	T	8: 69,065,626	S245R	probably damaging	Het
Tns1	T	G	1: 73,953,509	D670A	probably damaging	Het
Trim16	T	A	11: 62,820,858	D118E	probably benign	Het
Trpv1	A	G	11: 73,238,443	D62G	probably benign	Het
Tyr	A	G	7: 87,437,948	L452P	probably damaging	Het
Ubr4	T	C	4: 139,421,373	C1723R	probably damaging	Het
Uqcrb	G	A	13: 66,901,395		probably benign	Het
Vax2	G	T	6: 83,711,537	V81L	possibly damaging	Het
Zan	A	G	5: 137,464,844	V691A	unknown	Het
Zfp335	A	G	2: 164,894,788	S976P	possibly damaging	Het
Zfp384	C	T	6: 125,024,132	P56S	probably damaging	Het

Other mutations in Fhod3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
IGL02192:Fhod3	APN	18	25056358	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
R7829:Fhod3	UTSW	18	25115890	critical splice donor site	probably null

Posted On

2013-12-09