Mutagenetix > Incidental Mutation

Incidental Mutation 'R4668:Fhod3'

352206

Institutional Source

Beutler Lab

Gene Symbol

Fhod3

Ensembl Gene

ENSMUSG00000034295

Gene Name

formin homology 2 domain containing 3

Synonyms

A930009H06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4668 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24709445-25133500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25066338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 689 (P689S)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

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

AlphaFold

Q76LL6

Predicted Effect

probably benign
Transcript: ENSMUST00000037097
AA Change: P689S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: P689S

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	T	9: 114,304,711		noncoding transcript	Het
6430548M08Rik	T	C	8: 120,160,414		probably null	Het
Abca4	G	A	3: 122,155,299	G531E	possibly damaging	Het
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Acot10	T	C	15: 20,665,942	S238G	probably benign	Het
Adamtsl2	A	T	2: 27,095,475	H457L	probably benign	Het
Ankrd35	A	T	3: 96,679,208	T67S	probably damaging	Het
Aox2	T	G	1: 58,334,694	I838S	possibly damaging	Het
Arnt2	T	C	7: 84,275,386	N411S	probably damaging	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Carns1	A	T	19: 4,165,476	Y902*	probably null	Het
Cavin1	T	C	11: 100,958,796	E336G	probably damaging	Het
Cbl	A	T	9: 44,153,848	C728S	probably benign	Het
Ccdc136	C	A	6: 29,411,281	Q218K	probably damaging	Het
Cdk19	C	A	10: 40,466,710	T196K	probably damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Ces3a	A	C	8: 105,053,423	K299T	probably damaging	Het
Cfap61	A	T	2: 146,143,136	I967F	probably damaging	Het
Cnksr1	C	T	4: 134,232,971		probably benign	Het
Cped1	T	C	6: 22,237,653	Y923H	probably benign	Het
Crip3	T	C	17: 46,429,364	L30P	probably damaging	Het
Csmd1	A	G	8: 16,023,891	I2030T	possibly damaging	Het
Ctse	C	A	1: 131,662,749	P70T	probably damaging	Het
Cyp2b23	A	G	7: 26,672,734	F429L	probably damaging	Het
Cyp2c66	T	A	19: 39,176,656	D360E	probably damaging	Het
D8Ertd738e	A	T	8: 84,249,481	L46*	probably null	Het
Dcp2	T	A	18: 44,415,362		probably null	Het
Ddx10	C	A	9: 53,099,213	D834Y	possibly damaging	Het
Ddx19a	A	T	8: 110,979,084	V245E	probably damaging	Het
Dpf2	A	C	19: 5,904,487	D130E	probably benign	Het
Emc8	A	T	8: 120,667,779	M67K	probably damaging	Het
Ephb6	T	C	6: 41,614,602	L231P	possibly damaging	Het
Erp27	T	C	6: 136,908,152	E216G	possibly damaging	Het
Esco1	A	T	18: 10,594,734	I184N	possibly damaging	Het
Fam205c	A	G	4: 42,871,608	F256L	probably benign	Het
Fdxacb1	T	A	9: 50,770,260	D11E	possibly damaging	Het
Fnip1	T	A	11: 54,503,559	S940R	probably damaging	Het
Ganc	G	T	2: 120,431,067	V343F	probably benign	Het
Gldn	T	A	9: 54,332,018	L228*	probably null	Het
Gm1123	C	T	9: 99,009,373	R341H	probably damaging	Het
Gtf2f2	T	C	14: 75,917,638	Y161C	probably benign	Het
Gtf3c1	T	C	7: 125,667,338	T979A	probably damaging	Het
Hist1h4a	A	G	13: 23,760,976	V61A	probably benign	Het
Hmcn2	G	T	2: 31,435,792	R4277L	probably benign	Het
Hsd17b6	T	A	10: 127,994,426		probably null	Het
Igkv12-46	T	C	6: 69,764,797	T25A	probably damaging	Het
Inpp5e	G	A	2: 26,400,994	R354C	probably damaging	Het
Jcad	T	A	18: 4,680,221		probably null	Het
Kcna10	G	T	3: 107,194,694	A214S	possibly damaging	Het
Kit	T	C	5: 75,641,220		probably null	Het
Kmt2a	G	A	9: 44,824,572		probably benign	Het
Lama1	T	C	17: 67,752,434	V604A	probably benign	Het
Mesd	T	C	7: 83,895,756	V138A	probably damaging	Het
Mmp13	T	C	9: 7,272,580	F9S	possibly damaging	Het
Mocos	T	C	18: 24,666,434	Y242H	probably benign	Het
Mrc1	A	C	2: 14,293,486	T718P	probably damaging	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Myh10	A	G	11: 68,804,642	K1532E	probably damaging	Het
Nat9	T	C	11: 115,184,542	N91S	probably damaging	Het
Neto2	A	T	8: 85,641,062	I351N	probably damaging	Het
Nfx1	A	G	4: 40,976,367	N14D	possibly damaging	Het
Nlrp4b	A	G	7: 10,714,733	T288A	possibly damaging	Het
Nutm2	C	A	13: 50,472,997	T396K	probably benign	Het
Ogdhl	A	G	14: 32,332,536	T196A	probably benign	Het
Olfr1453	A	T	19: 13,028,081	F83I	probably benign	Het
Olfr548-ps1	A	G	7: 102,542,604	I223V	possibly damaging	Het
Olfr582	A	T	7: 103,041,851	D119V	probably benign	Het
Omg	T	A	11: 79,502,423	N203I	probably damaging	Het
Pdgfrb	A	G	18: 61,064,113	Y207C	probably damaging	Het
Pdzd7	T	A	19: 45,045,687		probably benign	Het
Pgs1	C	A	11: 118,003,507	H157N	probably damaging	Het
Pik3c2a	A	G	7: 116,358,688	V1121A	probably benign	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Pms1	G	A	1: 53,189,474	Q872*	probably null	Het
Ptgs2	A	G	1: 150,101,084	T23A	probably benign	Het
Rgl1	T	G	1: 152,521,371	R716S	probably damaging	Het
Rif1	A	G	2: 52,111,952	E1806G	probably benign	Het
Ripor1	T	C	8: 105,614,652	V39A	probably benign	Het
Ryr2	G	T	13: 11,593,117	T868N	probably benign	Het
Sec22b	A	T	3: 97,921,122	D167V	probably damaging	Het
Sec24d	T	C	3: 123,355,774	V810A	probably damaging	Het
Shh	T	C	5: 28,457,855	*438W	probably null	Het
Slc25a12	G	A	2: 71,315,062	S178L	probably benign	Het
Sorl1	A	T	9: 41,984,508	W1784R	probably damaging	Het
Sp3	A	T	2: 72,970,981	S229R	probably damaging	Het
Spdye4c	G	A	2: 128,592,353	V5I	possibly damaging	Het
Spint2	A	T	7: 29,260,379	V53D	probably damaging	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Stk25	A	G	1: 93,625,483	S299P	probably damaging	Het
Sult2a3	A	G	7: 14,122,861	S45P	probably damaging	Het
Thsd7a	A	T	6: 12,408,968	V685E	probably damaging	Het
Tm9sf4	T	A	2: 153,187,308	V92D	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Topors	G	A	4: 40,262,669	T205I	probably damaging	Het
Tpo	T	A	12: 30,103,290	Y355F	probably benign	Het
Uba1y	T	A	Y: 826,032	M396K	possibly damaging	Het
Vmn1r50	A	T	6: 90,107,531	Q86L	probably benign	Het
Vmn1r77	A	G	7: 12,041,431	K45E	probably damaging	Het
Vmn2r114	A	C	17: 23,310,473	N218K	possibly damaging	Het
Vmn2r66	T	A	7: 84,994,697	N835I	probably damaging	Het
Vps54	T	G	11: 21,299,989	N458K	probably benign	Het
Zcchc7	G	T	4: 44,895,964	C304F	probably damaging	Het
Zfp335	A	T	2: 164,900,286	C593S	probably damaging	Het
Zmynd15	C	G	11: 70,462,588	P214R	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
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
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
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
R7889:Fhod3	UTSW	18	24770494	missense	probably damaging	0.99
R8072:Fhod3	UTSW	18	25020665	small deletion	probably benign
R8117:Fhod3	UTSW	18	25115853	missense	probably damaging	1.00
R8245:Fhod3	UTSW	18	25113616	missense	probably damaging	1.00
R8511:Fhod3	UTSW	18	25132937	missense	probably damaging	0.99
R8518:Fhod3	UTSW	18	25056333	missense	probably damaging	1.00
R8845:Fhod3	UTSW	18	25132919	missense	probably damaging	0.99
R8889:Fhod3	UTSW	18	25056395	critical splice donor site	probably null
R8892:Fhod3	UTSW	18	25056395	critical splice donor site	probably null
R9016:Fhod3	UTSW	18	25110079	missense	possibly damaging	0.90
R9035:Fhod3	UTSW	18	25028083	missense	probably benign	0.03
R9063:Fhod3	UTSW	18	25020715	missense	probably damaging	0.99
R9157:Fhod3	UTSW	18	25085594	missense	probably damaging	0.98
R9201:Fhod3	UTSW	18	24994556	nonsense	probably null
R9244:Fhod3	UTSW	18	25115865	missense	probably damaging	1.00
R9268:Fhod3	UTSW	18	24709775	critical splice donor site	probably null
R9272:Fhod3	UTSW	18	24897624	splice site	probably benign
R9415:Fhod3	UTSW	18	24969187	missense	probably damaging	1.00
R9530:Fhod3	UTSW	18	25115853	missense	probably damaging	1.00
R9596:Fhod3	UTSW	18	25060335	nonsense	probably null
R9739:Fhod3	UTSW	18	24770509	missense	probably damaging	1.00
Z1177:Fhod3	UTSW	18	25020706	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGGTGTTCCATCCATAAAC -3'
(R):5'- CCCCAGAAACTTACCTGTCCTG -3'

Sequencing Primer
(F):5'- GGTGTTCCATCCATAAACAAGCATC -3'
(R):5'- AGAAACTTACCTGTCCTGATGTC -3'

Posted On

2015-10-08