Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00429:Fhod3'

5729

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00429

Quality Score

Status

Chromosome

Chromosomal Location

24841680-25266558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25127597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 313 (E313G)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

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

AlphaFold

Q76LL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037097
AA Change: E313G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: E313G

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009J07Rik	G	A	10: 77,729,673 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,040,983 (GRCm39)	L38P	probably damaging	Het
Abca1	A	G	4: 53,059,255 (GRCm39)		probably null	Het
Abca15	T	A	7: 119,996,277 (GRCm39)	I1401N	probably damaging	Het
Adam3	A	C	8: 25,184,294 (GRCm39)	Y569D	probably damaging	Het
Ap2a1	T	C	7: 44,555,192 (GRCm39)	S458G	probably damaging	Het
Asxl3	C	T	18: 22,658,280 (GRCm39)	P2097S	probably benign	Het
AW551984	T	C	9: 39,504,145 (GRCm39)	D607G	probably benign	Het
Ccdc158	C	A	5: 92,805,740 (GRCm39)	M338I	probably benign	Het
Cdh23	A	G	10: 60,256,920 (GRCm39)	S735P	probably damaging	Het
Cdh9	T	C	15: 16,828,448 (GRCm39)	V180A	probably damaging	Het
Cyp4a31	A	T	4: 115,432,171 (GRCm39)		probably benign	Het
Dus4l	A	G	12: 31,691,668 (GRCm39)	V180A	probably benign	Het
Dysf	A	T	6: 84,166,826 (GRCm39)	T1672S	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,340 (GRCm39)	L141Q	probably damaging	Het
Gm4884	A	G	7: 40,693,809 (GRCm39)	T593A	probably benign	Het
H2bc14	T	C	13: 21,906,310 (GRCm39)	S15P	possibly damaging	Het
Il18r1	G	A	1: 40,537,812 (GRCm39)	E526K	possibly damaging	Het
Lama4	A	T	10: 38,887,022 (GRCm39)	H109L	possibly damaging	Het
Mab21l1	A	C	3: 55,690,557 (GRCm39)	Q48P	probably damaging	Het
Magi3	T	A	3: 103,922,294 (GRCm39)	K1474N	probably damaging	Het
Mre11a	T	C	9: 14,714,109 (GRCm39)	F237L	probably damaging	Het
Mst1r	A	T	9: 107,790,449 (GRCm39)		probably benign	Het
Mtcl2	A	C	2: 156,872,784 (GRCm39)	F909C	probably damaging	Het
Myh2	C	T	11: 67,071,616 (GRCm39)	Q478*	probably null	Het
Mylip	C	A	13: 45,562,043 (GRCm39)	P282T	probably benign	Het
Mymk	T	C	2: 26,952,799 (GRCm39)	Y103C	probably damaging	Het
Necab1	A	T	4: 15,052,656 (GRCm39)	N107K	probably damaging	Het
Pclo	T	C	5: 14,730,753 (GRCm39)		probably benign	Het
Phgdh	T	C	3: 98,235,631 (GRCm39)	K129E	probably damaging	Het
Plxna4	T	C	6: 32,139,026 (GRCm39)	Y1714C	probably damaging	Het
Pm20d2	A	G	4: 33,187,205 (GRCm39)		probably benign	Het
Ppfibp2	A	G	7: 107,296,801 (GRCm39)	T172A	probably benign	Het
Prkca	T	C	11: 108,234,334 (GRCm39)	T54A	probably benign	Het
Prlr	A	G	15: 10,328,410 (GRCm39)	D295G	probably benign	Het
Rdh12	A	G	12: 79,258,176 (GRCm39)	I68V	probably benign	Het
Slc14a2	A	G	18: 78,193,653 (GRCm39)	F850L	possibly damaging	Het
Smad2	A	T	18: 76,431,566 (GRCm39)	S185C	possibly damaging	Het
Trav13n-4	T	A	14: 53,601,288 (GRCm39)	L19Q	probably benign	Het
Ush2a	T	A	1: 188,132,311 (GRCm39)	C844*	probably null	Het
Vwce	T	A	19: 10,641,875 (GRCm39)		probably null	Het
Wdr95	T	C	5: 149,518,709 (GRCm39)		probably benign	Het
Zfp143	T	C	7: 109,690,979 (GRCm39)	I510T	probably damaging	Het
Zfp930	G	T	8: 69,680,634 (GRCm39)	K90N	probably damaging	Het

Other mutations in Fhod3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20