Mutagenetix > Incidental Mutations

Incidental Mutation 'R0570:Fhod3'

46419

Institutional Source

Beutler Lab

Gene Symbol

Fhod3

Ensembl Gene

ENSMUSG00000034295

Gene Name

formin homology 2 domain containing 3

Synonyms

A930009H06Rik

MMRRC Submission

038761-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24709445-25133500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25112583 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1230 (I1230T)

Ref Sequence

ENSEMBL: ENSMUSP00000041361 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037097
AA Change: I1230T

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295
AA Change: I1230T

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

0.1106

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,003,104		probably benign	Het
Aadacl3	C	T	4: 144,463,560	W57*	probably null	Het
Abca2	G	T	2: 25,447,405		probably null	Het
Abca3	A	G	17: 24,374,399	I257V	probably benign	Het
Adamts2	A	G	11: 50,776,136	D420G	probably damaging	Het
Adamts5	A	G	16: 85,899,247	F341L	probably damaging	Het
Ahnak	T	A	19: 9,013,698	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,840,451	S365P	possibly damaging	Het
Atrn	G	A	2: 130,980,134	V916I	probably benign	Het
Blmh	T	C	11: 76,965,825	V82A	probably damaging	Het
C1ra	A	T	6: 124,513,705	Y19F	probably benign	Het
Cactin	A	G	10: 81,323,233	E306G	probably damaging	Het
Celsr1	C	T	15: 85,903,365	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,925,349	E250G	probably benign	Het
Col17a1	A	T	19: 47,665,878	S647T	possibly damaging	Het
Cope	T	A	8: 70,306,531	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,270,378	I198T	probably damaging	Het
Elfn2	T	C	15: 78,673,234	N371S	probably damaging	Het
Elmo2	G	T	2: 165,304,919	A246D	probably benign	Het
Ewsr1	A	T	11: 5,085,935	M187K	possibly damaging	Het
Faap100	A	T	11: 120,374,288	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,209,249	S85L	probably benign	Het
Fanca	A	T	8: 123,306,430	S292R	probably benign	Het
Fanci	G	A	7: 79,443,963	C1021Y	probably damaging	Het
Fmo5	T	C	3: 97,629,140	L27S	probably damaging	Het
Fmo9	A	G	1: 166,674,462	V147A	probably null	Het
Fnbp4	A	G	2: 90,752,957	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,759,562	T229A	probably benign	Het
Gapvd1	A	G	2: 34,728,540	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,017,675		probably null	Het
Gcn1l1	T	A	5: 115,592,421	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,625,649		probably benign	Het
Gtf2ird2	T	A	5: 134,208,944		probably null	Het
H2-Q1	A	G	17: 35,321,397	T153A	possibly damaging	Het
Ina	A	C	19: 47,023,499	E452A	probably benign	Het
Kars	A	G	8: 111,994,862		probably null	Het
Kif1c	A	G	11: 70,704,465	E124G	probably damaging	Het
Lpin3	T	C	2: 160,904,024		probably benign	Het
Lrp1	A	T	10: 127,555,009	C3006*	probably null	Het
Lyst	T	C	13: 13,709,386	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,929,572	A31V	probably benign	Het
Melk	T	C	4: 44,308,906	Y88H	probably damaging	Het
Myrf	A	G	19: 10,211,797	S857P	probably damaging	Het
Nos2	A	G	11: 78,935,361	I153M	possibly damaging	Het
Olfr732	T	G	14: 50,281,913	L113F	probably benign	Het
Otof	A	G	5: 30,371,881		probably benign	Het
Patl2	A	G	2: 122,125,308	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,412,180	Y19C	probably benign	Het
Pcnt	A	T	10: 76,412,107	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,638,657	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,077,703	M761L	probably benign	Het
Pi16	A	T	17: 29,319,215	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,455,605		probably benign	Het
Plcb2	A	G	2: 118,717,325	W474R	probably benign	Het
Psapl1	A	G	5: 36,204,280	D72G	possibly damaging	Het
Ptpn5	T	A	7: 47,078,933		probably benign	Het
Ptprg	A	G	14: 12,215,896	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,557,966	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,659,194	C168*	probably null	Het
Rhag	A	G	17: 40,828,913		probably benign	Het
Rhebl1	C	T	15: 98,881,153	V17I	probably benign	Het
Rnf130	A	T	11: 50,095,876	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,509,895	L60P	probably damaging	Het
Rspry1	T	C	8: 94,629,792	I25T	probably damaging	Het
Ruvbl2	C	T	7: 45,422,197	V421M	probably damaging	Het
Sap30	T	C	8: 57,482,966	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,503,978		probably benign	Het
Slc1a2	G	A	2: 102,756,007	V319M	probably damaging	Het
Smad2	T	C	18: 76,289,179		probably benign	Het
Spdya	T	C	17: 71,562,590		probably null	Het
Stk39	G	A	2: 68,410,048	T113M	probably damaging	Het
Tanc1	A	G	2: 59,796,038		probably benign	Het
Tas2r122	T	C	6: 132,711,811	K40E	probably damaging	Het
Tph2	G	T	10: 115,174,134		probably benign	Het
Trip12	G	A	1: 84,751,548	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,626,727	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,762,419	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,338,564	M142I	possibly damaging	Het
Uso1	T	C	5: 92,199,823	S766P	probably benign	Het
Usp21	G	A	1: 171,283,746		probably benign	Het
Usp48	T	A	4: 137,633,126	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,620,413	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,540,675	A807T	probably damaging	Het
Zfp329	A	T	7: 12,810,452	C382S	probably damaging	Het
Zfp341	A	G	2: 154,646,068	E817G	probably benign	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
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
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
Z1177:Fhod3	UTSW	18	25020706	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAGAGCAAGCAGTCTTCACTCC -3'
(R):5'- GTACAGCTCCATCAGTATGCGACG -3'

Sequencing Primer
(F):5'- TATCTAGGACCAAATGCCTGTC -3'
(R):5'- TCAGTATGCGACGGCAGAG -3'

Posted On

2013-06-11