Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02607:Fmnl3'

300314

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmnl3

Ensembl Gene

ENSMUSG00000023008

Gene Name

formin-like 3

Synonyms

Wbp3, 2700073B04Rik

Accession Numbers

Genbank: NM_011711; MGI: 109569

Is this an essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

IGL02607

Quality Score

Status

Chromosome

Chromosomal Location

99317225-99370482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99324772 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 431 (L431Q)

Ref Sequence

ENSEMBL: ENSMUSP00000085566 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081224
AA Change: L380Q

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: L380Q

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: L431Q

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

SMART Domains

Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: L431Q

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: L431Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: L431Q

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

Coding Region Coverage

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 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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	G	A	16: 90,929,947	T98M	probably damaging	Het
Abca17	C	T	17: 24,327,705	W307*	probably null	Het
Cit	A	G	5: 115,859,209	I84V	probably benign	Het
Cltc	T	C	11: 86,706,714	D1132G	probably benign	Het
Cobll1	A	T	2: 65,151,085	S54T	probably damaging	Het
Dcstamp	A	G	15: 39,754,584	R130G	possibly damaging	Het
Dennd4a	A	G	9: 64,862,327	M439V	probably damaging	Het
Dnajc15	T	A	14: 77,840,216	I110F	probably damaging	Het
Dock1	T	C	7: 134,851,513	F824L	probably benign	Het
Eml2	A	G	7: 19,206,111	H617R	probably damaging	Het
Fgd6	A	T	10: 94,044,448	Q388L	possibly damaging	Het
Fkbp4	A	T	6: 128,434,470		probably benign	Het
Gng8	T	C	7: 16,894,934		probably benign	Het
Hmcn1	T	A	1: 150,744,995	I1155F	possibly damaging	Het
Muc4	G	T	16: 32,775,819	C3135F	possibly damaging	Het
Mycbp2	C	T	14: 103,285,273	G685D	probably damaging	Het
Olfr1389	T	C	11: 49,430,512	F12S	probably damaging	Het
Pcdhb8	A	T	18: 37,357,581	I771F	probably benign	Het
Pkn2	A	G	3: 142,794,101		probably null	Het
Rrn3	G	T	16: 13,806,563	V420L	possibly damaging	Het
Samm50	A	T	15: 84,207,838	Y338F	probably benign	Het
Slc2a7	C	T	4: 150,154,705	T129I	probably benign	Het
Tbc1d8	T	C	1: 39,379,511	I806V	probably benign	Het
Tex2	T	C	11: 106,546,747	E699G	unknown	Het
Vmn2r85	T	C	10: 130,426,421	K150E	possibly 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
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
R5951:Fmnl3	UTSW	15	99325910	missense	probably damaging	1.00
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
R7952:Fmnl3	UTSW	15	99322637	missense	probably damaging	0.97
R7977:Fmnl3	UTSW	15	99328098	missense	possibly damaging	0.89
R7987:Fmnl3	UTSW	15	99328098	missense	possibly damaging	0.89
R8749:Fmnl3	UTSW	15	99321441	missense	possibly damaging	0.88
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

Posted On

2015-04-16