Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Fhod3'

77964

Institutional Source

Beutler Lab

Gene Symbol

Fhod3

Ensembl Gene

ENSMUSG00000034295

Gene Name

formin homology 2 domain containing 3

Synonyms

A930009H06Rik

MMRRC Submission

039015-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24709445-25133500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25066218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 649 (Y649N)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

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

AlphaFold

Q76LL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037097
AA Change: Y649N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: Y649N

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

Meta Mutation Damage Score

0.1577

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,364,120	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,350,255	G7D	probably benign	Het
Alg14	A	G	3: 121,298,610	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379		probably benign	Het
Asphd2	A	T	5: 112,391,769	L66H	probably damaging	Het
Astl	T	C	2: 127,342,419	F21L	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,776		probably benign	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Ces1f	A	T	8: 93,270,024	S214T	probably damaging	Het
Cfap43	C	A	19: 47,815,846	V304L	probably benign	Het
Col26a1	A	G	5: 136,765,300		probably null	Het
Cpa5	T	C	6: 30,623,211	S124P	probably damaging	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
D17H6S53E	A	T	17: 35,127,409		probably null	Het
D17Wsu92e	A	T	17: 27,786,138	S148R	probably damaging	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dnah11	G	A	12: 118,196,662	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519		probably benign	Het
Epn2	T	C	11: 61,519,491	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944		probably benign	Het
Fam217b	T	C	2: 178,420,989	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,999	H278R	probably benign	Het
Gm5155	C	A	7: 17,904,981	A301E	possibly damaging	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Grap	T	A	11: 61,660,239	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,754,296	S670P	probably damaging	Het
Itga2	A	G	13: 114,856,679	V800A	probably damaging	Het
Itgae	A	T	11: 73,129,206	M845L	probably benign	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itpka	T	A	2: 119,750,831	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Kcnd2	T	C	6: 21,726,239		probably benign	Het
Kcnd2	T	A	6: 21,727,329	V627E	probably damaging	Het
Ktn1	A	G	14: 47,701,062		probably null	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Macf1	A	G	4: 123,494,882		probably null	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Nfkbia	C	A	12: 55,490,776	A211S	probably damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Otog	C	T	7: 46,269,362	T954I	possibly damaging	Het
Phlpp2	A	G	8: 109,937,106	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907		probably benign	Het
Plekha5	T	A	6: 140,589,634		probably benign	Het
Pmch	A	G	10: 88,091,224	I30V	probably benign	Het
Ppat	A	C	5: 76,922,501	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553	F85I	probably damaging	Het
Rbp3	T	G	14: 33,956,638	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,247,933	S85T	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Shc1	A	G	3: 89,422,969	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc30a7	T	A	3: 115,990,140		probably null	Het
Slc34a2	A	G	5: 53,067,707	T397A	probably benign	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Sorcs3	G	A	19: 48,487,394	V231I	probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Stard9	T	G	2: 120,696,999	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,687,430	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,741,940		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm3	C	T	2: 130,026,682		probably benign	Het
Thbs4	T	G	13: 92,758,038	D659A	probably damaging	Het
Tmed11	A	T	5: 108,795,309	M1K	probably null	Het
Tmpo	A	T	10: 91,161,953	C657*	probably null	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Urb1	T	C	16: 90,795,448	D308G	possibly damaging	Het
Vav3	A	G	3: 109,647,679	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,427,956	H231L	possibly damaging	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	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
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
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'- TGTGCGATGCTGACATTTGTCCTC -3'
(R):5'- TGGATGGTGATGCTCAGCTTTCCC -3'

Sequencing Primer
(F):5'- CCTCGCTTGCTTATGAATGATG -3'
(R):5'- TCACCCAGCACTCACCTTG -3'

Posted On

2013-10-16