Mutagenetix > Incidental Mutation

Incidental Mutation 'R9201:Fhod3'

698249

Institutional Source

Beutler Lab

Gene Symbol

Fhod3

Ensembl Gene

ENSMUSG00000034295

Gene Name

formin homology 2 domain containing 3

Synonyms

A930009H06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9201 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24841680-25266558 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 25127613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 318 (Y318*)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

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

AlphaFold

Q76LL6

Predicted Effect

probably null
Transcript: ENSMUST00000037097
AA Change: Y318*

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: Y318*

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,150,709 (GRCm39)	V21A	possibly damaging	Het
Abcc2	T	C	19: 43,786,880 (GRCm39)	F167S	probably damaging	Het
Afap1l2	C	A	19: 56,916,688 (GRCm39)	W280L	probably damaging	Het
Ankrd17	A	T	5: 90,378,798 (GRCm39)	M2540K	possibly damaging	Het
Atxn10	T	C	15: 85,243,687 (GRCm39)	V50A	probably damaging	Het
Bpifb2	A	T	2: 153,733,903 (GRCm39)	Q415L	possibly damaging	Het
Cat	A	T	2: 103,304,754 (GRCm39)	D90E	possibly damaging	Het
Cdh12	T	C	15: 21,237,825 (GRCm39)	L20P	possibly damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cimap3	T	A	3: 105,906,921 (GRCm39)	K159N	probably damaging	Het
Clca3a2	A	G	3: 144,519,684 (GRCm39)	I230T	probably benign	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Dcaf15	T	C	8: 84,828,699 (GRCm39)	T159A	possibly damaging	Het
Dcbld1	A	G	10: 52,138,000 (GRCm39)	D88G	probably benign	Het
Edem3	G	T	1: 151,694,324 (GRCm39)	V886F	probably benign	Het
Ero1a	A	G	14: 45,525,214 (GRCm39)	V437A	probably damaging	Het
Fat4	T	C	3: 38,945,079 (GRCm39)	V1324A	probably damaging	Het
Fgfr1op2	A	G	6: 146,494,217 (GRCm39)	E161G	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kmt5a	A	T	5: 124,597,912 (GRCm39)	E256D	probably damaging	Het
Lax1	A	T	1: 133,608,205 (GRCm39)	S179T	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nrap	T	A	19: 56,340,093 (GRCm39)	H844L	probably damaging	Het
Nrip3	T	C	7: 109,360,906 (GRCm39)	T230A	probably benign	Het
Nudcd1	T	C	15: 44,263,473 (GRCm39)	K322R	probably benign	Het
Or14c40	T	C	7: 86,313,749 (GRCm39)	I293T	probably damaging	Het
Or9a7	C	T	6: 40,521,293 (GRCm39)	V207I	probably benign	Het
Paqr3	A	G	5: 97,245,365 (GRCm39)	S256P	possibly damaging	Het
Ppfia2	T	C	10: 106,678,640 (GRCm39)		probably null	Het
Ppp2r1b	T	A	9: 50,789,447 (GRCm39)	N503K	probably benign	Het
Ppp2r2b	A	G	18: 42,871,101 (GRCm39)	Y70H	possibly damaging	Het
Pramel34	A	T	5: 93,785,937 (GRCm39)	N114K	probably benign	Het
Ptprz1	G	T	6: 22,972,869 (GRCm39)		probably null	Het
Rbm15b	A	G	9: 106,762,218 (GRCm39)	S138P	unknown	Het
Slc4a5	C	T	6: 83,262,812 (GRCm39)	T768I	probably benign	Het
Smc2	T	A	4: 52,446,044 (GRCm39)	N137K	probably damaging	Het
Snai2	A	T	16: 14,524,632 (GRCm39)	E46V	probably benign	Het
Spata31d1c	A	G	13: 65,184,773 (GRCm39)	S772G	possibly damaging	Het
Spidr	G	T	16: 15,730,556 (GRCm39)	R650S	possibly damaging	Het
Stox1	A	G	10: 62,501,352 (GRCm39)	S403P	probably damaging	Het
Tdrd6	T	C	17: 43,936,561 (GRCm39)	K1496E	probably benign	Het
Tsc1	T	C	2: 28,576,791 (GRCm39)	V1031A	probably benign	Het
Txnrd1	T	C	10: 82,719,821 (GRCm39)	I394T	probably benign	Het
Usp24	T	A	4: 106,277,727 (GRCm39)	F2286I	probably benign	Het
Zfp369	T	C	13: 65,444,396 (GRCm39)	V513A	probably benign	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
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
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'- AACATGTCTTCGTTGCCTTGTG -3'
(R):5'- ATAGTTGCCAGCTTCCTCTG -3'

Sequencing Primer
(F):5'- TGTTCTTCTGAGATATGTTTGCATC -3'
(R):5'- CAACTACATATTGGGGTCTCCTGG -3'

Posted On

2022-02-07