Mutagenetix > Incidental Mutation

Incidental Mutation 'R7294:Fhod3'

566644

Institutional Source

Beutler Lab

Gene Symbol

Fhod3

Ensembl Gene

ENSMUSG00000034295

Gene Name

formin homology 2 domain containing 3

Synonyms

A930009H06Rik

MMRRC Submission

045399-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24841680-25266558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25266037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1575 (E1575G)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037097] [ENSMUST00000115817] [ENSMUST00000148255]

AlphaFold

Q76LL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037097
AA Change: E1575G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: E1575G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115817

SMART Domains

Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269

Domain	Start	End	E-Value	Type
SMI1_KNR4	43	187	1.04e-3	SMART
low complexity region	253	264	N/A	INTRINSIC
low complexity region	271	293	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148255

SMART Domains

Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269

Domain	Start	End	E-Value	Type
SMI1_KNR4	43	187	1.04e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (49/52)

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
A2m	T	A	6: 121,650,541 (GRCm39)	Y1216*	probably null	Het
Abca17	G	A	17: 24,539,983 (GRCm39)	T415M	not run	Het
Adam1a	G	T	5: 121,658,068 (GRCm39)	C408*	probably null	Het
Adamts9	G	A	6: 92,871,270 (GRCm39)	T603M	probably damaging	Het
Amdhd1	T	C	10: 93,370,301 (GRCm39)	E179G	probably benign	Het
Bcan	T	C	3: 87,902,831 (GRCm39)	T316A	possibly damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C5ar1	T	C	7: 15,982,950 (GRCm39)	I23M	probably benign	Het
Cd109	A	T	9: 78,619,917 (GRCm39)	E1386D	probably damaging	Het
Cdcp1	C	T	9: 123,006,986 (GRCm39)	C587Y	probably benign	Het
Cdh22	A	C	2: 164,984,013 (GRCm39)	V413G	possibly damaging	Het
Cfap44	A	G	16: 44,225,256 (GRCm39)		probably benign	Het
Col2a1	A	G	15: 97,885,168 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,756,005 (GRCm39)	Y95N	probably damaging	Het
Dusp13b	A	G	14: 21,783,782 (GRCm39)	S178P	possibly damaging	Het
Gfpt2	C	T	11: 49,709,435 (GRCm39)	R209*	probably null	Het
Heg1	T	C	16: 33,546,859 (GRCm39)	S573P	probably damaging	Het
Hinfp	A	G	9: 44,210,567 (GRCm39)	C152R	probably damaging	Het
Hmgcs2	C	T	3: 98,198,211 (GRCm39)	T38I	probably benign	Het
Jakmip1	T	C	5: 37,274,804 (GRCm39)	F441L	possibly damaging	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kpna4	A	C	3: 68,999,956 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,022,848 (GRCm39)	I456F	possibly damaging	Het
Leprotl1	A	T	8: 34,606,006 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,835 (GRCm39)	T42S	possibly damaging	Het
Naa80	T	G	9: 107,460,182 (GRCm39)	F26V	possibly damaging	Het
Nr1h5	T	C	3: 102,852,578 (GRCm39)	T419A	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or4c12	A	C	2: 89,774,068 (GRCm39)	Y130*	probably null	Het
Or52b3	T	A	7: 102,204,160 (GRCm39)	I223N	probably damaging	Het
Pax6	T	A	2: 105,515,246 (GRCm39)	C66*	probably null	Het
Pde10a	A	T	17: 8,975,853 (GRCm39)	N53Y	probably benign	Het
Pdgfra	A	G	5: 75,342,312 (GRCm39)	N711S	probably benign	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Slc26a1	G	T	5: 108,821,698 (GRCm39)	R80S	possibly damaging	Het
Slc2a4	T	C	11: 69,836,225 (GRCm39)	D262G	probably benign	Het
Specc1	T	A	11: 62,009,163 (GRCm39)	S226R	probably benign	Het
Srsf4	A	G	4: 131,627,772 (GRCm39)	S289G	unknown	Het
Stil	T	C	4: 114,864,480 (GRCm39)	V127A	probably benign	Het
Syne1	A	T	10: 5,047,483 (GRCm39)		probably null	Het
Tbc1d22a	T	A	15: 86,196,036 (GRCm39)	Y336N	possibly damaging	Het
Tbc1d8	C	T	1: 39,445,843 (GRCm39)	G116E	probably damaging	Het
Thrb	A	G	14: 17,826,963 (GRCm38)		probably benign	Het
Timd5	T	A	11: 46,426,439 (GRCm39)	I182K	probably benign	Het
Tln1	G	T	4: 43,534,399 (GRCm39)	H2253Q	probably benign	Het
Tmem131	A	C	1: 36,893,928 (GRCm39)	N158K	possibly damaging	Het
Toporsl	A	C	4: 52,611,903 (GRCm39)	T599P	probably benign	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Triobp	C	T	15: 78,858,176 (GRCm39)	A1259V	probably damaging	Het
Zfp40	A	G	17: 23,395,411 (GRCm39)	I392T	possibly 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
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
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'- CCTGGGTACTTTATTCAGCAGAAG -3'
(R):5'- GGAGATCCATGTCAATGCGC -3'

Sequencing Primer
(F):5'- AGACTAACCCTGGGCTACCTTG -3'
(R):5'- GATCCATGTCAATGCGCAACGG -3'

Posted On

2019-06-26