Mutagenetix > Incidental Mutations

Incidental Mutation 'R5951:Fmnl3'

470916

Institutional Source

Beutler Lab

Gene Symbol

Fmnl3

Ensembl Gene

ENSMUSG00000023008

Gene Name

formin-like 3

Synonyms

Wbp3, 2700073B04Rik

MMRRC Submission

044141-MU

Accession Numbers

Genbank: NM_011711; MGI: 109569

Is this an essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R5951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99317225-99370482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99325910 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 302 (R302W)

Ref Sequence

ENSEMBL: ENSMUSP00000085566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000120633]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081224
AA Change: R251W

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

SMART Domains

Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: R251W

Domain	Start	End	E-Value	Type
Drf_GBD	26	227	2.99e-88	SMART
Drf_FH3	230	421	6.1e-71	SMART
low complexity region	448	497	N/A	INTRINSIC
FH2	510	944	9.85e-141	SMART
low complexity region	960	975	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000088233
AA Change: R302W

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

SMART Domains

Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: R302W

Domain	Start	End	E-Value	Type
Drf_GBD	26	278	3.91e-92	SMART
Drf_FH3	281	472	6.1e-71	SMART
low complexity region	499	548	N/A	INTRINSIC
FH2	561	995	9.85e-141	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120633
AA Change: R302W

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

SMART Domains

Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: R302W

Domain	Start	End	E-Value	Type
Drf_GBD	26	278	3.91e-92	SMART
Drf_FH3	281	472	6.1e-71	SMART
low complexity region	499	548	N/A	INTRINSIC
FH2	561	995	9.85e-141	SMART
low complexity region	1011	1026	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140368

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,799	E180D	probably damaging	Het
Add3	A	G	19: 53,244,289		probably null	Het
Adgrv1	A	T	13: 81,442,501	I4396N	probably damaging	Het
Apc	C	T	18: 34,317,146	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,395,903	C51F	probably damaging	Het
Arid4b	T	C	13: 14,143,063	V177A	possibly damaging	Het
Atp13a1	T	A	8: 69,797,285	I343N	probably damaging	Het
Bcar1	T	C	8: 111,713,400	D654G	probably benign	Het
Brox	T	C	1: 183,282,508	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,319,579	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,140,141	K18Q	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Crot	C	A	5: 8,969,120	E478*	probably null	Het
Dgkq	A	T	5: 108,654,370	M443K	probably damaging	Het
Dhx32	A	T	7: 133,737,328	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,158,422	I93V	probably benign	Het
Ehmt2	C	T	17: 34,899,381	T44I	probably benign	Het
Enc1	T	C	13: 97,245,257	S92P	probably benign	Het
Epha5	T	C	5: 84,331,192		probably benign	Het
Eya4	T	A	10: 23,155,994	S244C	probably damaging	Het
Fscn3	A	T	6: 28,436,174	I490F	possibly damaging	Het
Galntl6	A	G	8: 57,962,402	V239A	probably benign	Het
Glg1	T	C	8: 111,165,691	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,837,812		noncoding transcript	Het
Gpd1l	C	T	9: 114,914,405	M142I	probably benign	Het
Helb	A	G	10: 120,091,748	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,824,891	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,967,318	S154N	possibly damaging	Het
Ice2	A	T	9: 69,412,369	T367S	possibly damaging	Het
Iqca	A	T	1: 90,140,097		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Klhl14	T	A	18: 21,651,620	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,330,803	D1447E	probably benign	Het
Larp1	G	T	11: 58,049,939	M630I	probably benign	Het
Lrp2	A	G	2: 69,496,323		probably null	Het
Map4k3	G	T	17: 80,603,998	Q673K	probably benign	Het
Mettl16	A	G	11: 74,795,997	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,785,733		probably benign	Het
Mthfd1l	T	A	10: 4,048,222	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,287	Y144H	probably damaging	Het
Olfr1093	G	T	2: 86,786,227	V166L	probably benign	Het
Olfr38	G	T	6: 42,762,559	C169F	probably damaging	Het
Padi1	T	C	4: 140,814,829	Y594C	probably damaging	Het
Palm3	T	A	8: 84,029,420	D520E	probably benign	Het
Paox	G	A	7: 140,127,654	C130Y	probably damaging	Het
Parpbp	T	A	10: 88,139,907	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,671,680	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,167,780	D212V	probably benign	Het
Pi4ka	A	G	16: 17,303,142	F53L	probably damaging	Het
Pik3c2a	A	T	7: 116,368,184	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,883,056		probably benign	Het
Ppl	A	T	16: 5,088,628	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,464,941	S6L	probably benign	Het
Ptk2	T	G	15: 73,303,833	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,222,183	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,814,327	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,270,255	F217I	probably damaging	Het
Serhl	T	C	15: 83,103,036		probably benign	Het
Sh3tc2	A	G	18: 61,990,007	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,452,715		probably benign	Het
Steap4	T	C	5: 7,975,769	I110T	probably benign	Het
Syde1	C	A	10: 78,589,316	R287L	possibly damaging	Het
Tmem184c	C	T	8: 77,598,662		probably null	Het
Trmt44	C	A	5: 35,572,688		probably benign	Het
Ttbk2	G	T	2: 120,773,283	S256R	probably benign	Het
Ttll6	A	T	11: 96,145,510	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753		probably null	Het
Wsb2	A	T	5: 117,377,535	T402S	probably damaging	Het

Other mutations in Fmnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Fmnl3	APN	15	99322670	missense	probably damaging	1.00
IGL00672:Fmnl3	APN	15	99325681	missense	probably damaging	1.00
IGL00727:Fmnl3	APN	15	99322670	missense	probably damaging	1.00
IGL00754:Fmnl3	APN	15	99322670	missense	probably damaging	1.00
IGL00927:Fmnl3	APN	15	99337628	critical splice donor site	probably null
IGL02376:Fmnl3	APN	15	99318963	missense	possibly damaging	0.51
IGL02607:Fmnl3	APN	15	99324772	missense	probably damaging	1.00
IGL03323:Fmnl3	APN	15	99321281	missense	probably damaging	1.00
C9142:Fmnl3	UTSW	15	99337627	splice site	probably null
PIT4280001:Fmnl3	UTSW	15	99321253	critical splice donor site	probably null
R0003:Fmnl3	UTSW	15	99321132	missense	probably damaging	0.99
R0003:Fmnl3	UTSW	15	99321132	missense	probably damaging	0.99
R0116:Fmnl3	UTSW	15	99322738	splice site	probably benign
R0117:Fmnl3	UTSW	15	99322738	splice site	probably benign
R0137:Fmnl3	UTSW	15	99322738	splice site	probably benign
R0138:Fmnl3	UTSW	15	99322738	splice site	probably benign
R0701:Fmnl3	UTSW	15	99321307	missense	probably damaging	0.99
R2338:Fmnl3	UTSW	15	99370227	missense	probably benign	0.01
R3729:Fmnl3	UTSW	15	99321864	missense	probably damaging	0.99
R4707:Fmnl3	UTSW	15	99323481	missense	probably benign	0.00
R5346:Fmnl3	UTSW	15	99331990	missense	probably damaging	1.00
R5655:Fmnl3	UTSW	15	99321862	missense	probably damaging	0.99
R5916:Fmnl3	UTSW	15	99321828	missense	probably damaging	0.99
R5954:Fmnl3	UTSW	15	99325910	missense	probably damaging	1.00
R5957:Fmnl3	UTSW	15	99325910	missense	probably damaging	1.00
R6334:Fmnl3	UTSW	15	99337653	missense	probably damaging	1.00
R6891:Fmnl3	UTSW	15	99325873	missense	probably damaging	1.00
R7182:Fmnl3	UTSW	15	99321782	missense	probably damaging	0.99
R7423:Fmnl3	UTSW	15	99329400	missense	probably damaging	0.99
X0009:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0010:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0011:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0012:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0014:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0017:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0021:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0023:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0023:Fmnl3	UTSW	15	99325284	missense	probably damaging	1.00
X0028:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0033:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0060:Fmnl3	UTSW	15	99320038	missense	possibly damaging	0.69
X0064:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00
X0067:Fmnl3	UTSW	15	99322327	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGAGTGCACCACAATGTTG -3'
(R):5'- CTGGTGTCCAAAATGGCACAG -3'

Sequencing Primer
(F):5'- GTGCACCACAATGTTGATGAACTG -3'
(R):5'- TGGCCTGAAACTATGGCAGTC -3'

Posted On

2017-03-31