Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02039:Fmn1'

184657

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmn1

Ensembl Gene

ENSMUSG00000044042

Gene Name

formin 1

Synonyms

Fmn, formin-1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

113327736-113716767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113365080 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 375 (L375P)

Ref Sequence

ENSEMBL: ENSMUSP00000125052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]

Predicted Effect

unknown
Transcript: ENSMUST00000099576
AA Change: L375P

SMART Domains

Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: L375P

Domain	Start	End	E-Value	Type
low complexity region	159	173	N/A	INTRINSIC
Blast:FH2	352	861	N/A	BLAST
SCOP:d1jvr__	894	925	2e-3	SMART
FH2	983	1388	1.16e-137	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000102547
AA Change: L375P

SMART Domains

Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: L375P

Domain	Start	End	E-Value	Type
low complexity region	159	173	N/A	INTRINSIC
Blast:FH2	352	861	N/A	BLAST
SCOP:d1jvr__	894	925	2e-3	SMART
FH2	983	1424	1.03e-134	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110954

Predicted Effect

unknown
Transcript: ENSMUST00000161731
AA Change: L375P

SMART Domains

Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: L375P

Domain	Start	End	E-Value	Type
low complexity region	159	173	N/A	INTRINSIC
Blast:FH2	352	619	1e-62	BLAST
Blast:FH2	625	765	3e-53	BLAST
SCOP:d1jvr__	796	827	2e-3	SMART
FH2	885	1290	1.16e-137	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous, irradiation-induced, and transgene-insertional mutations show severe syndactyly and oligodactyly of the feet, abnormal long bones (including radius-ulna fusions), and reduced or absent kidneys. Many mutants survive and breed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,297,193	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,972,267	I1323T	probably benign	Het
C87436	A	G	6: 86,453,695	M366V	probably benign	Het
Cep290	T	C	10: 100,514,602		probably null	Het
Cpsf3	T	C	12: 21,301,456	M326T	probably damaging	Het
Cpxm2	A	G	7: 132,047,753	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,478,594	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,875,021	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,764,027		probably null	Het
Dnah2	T	A	11: 69,499,212	I736F	probably damaging	Het
Erf	T	C	7: 25,244,544	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,719	V1482A	probably benign	Het
Foxm1	T	C	6: 128,369,360	Y85H	probably damaging	Het
Frem3	A	G	8: 80,612,971	E631G	probably damaging	Het
Fsip1	T	C	2: 118,240,414	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,864,486	Q330*	probably null	Het
Grin1	C	T	2: 25,305,342	V246M	probably damaging	Het
Ifitm3	C	A	7: 141,010,650		probably benign	Het
Igdcc3	G	A	9: 65,183,880	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,578,594	I87T	probably benign	Het
Imp4	G	A	1: 34,443,768		probably null	Het
Ino80	T	C	2: 119,380,073	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,233,867	I830V	possibly damaging	Het
Mgea5	A	T	19: 45,773,703	V237E	probably damaging	Het
Muc5b	A	G	7: 141,871,164	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,522,110	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995		probably benign	Het
Nup35	T	C	2: 80,642,775	M64T	probably benign	Het
Nxpe2	T	A	9: 48,319,659	N470I	probably benign	Het
Olfr109	T	A	17: 37,466,449	I81N	possibly damaging	Het
Olfr1502	C	T	19: 13,862,719	Q309*	probably null	Het
Os9	G	A	10: 127,096,291	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,105,032	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,435,368		probably null	Het
Pola2	A	T	19: 5,948,469	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,515,994	R15*	probably null	Het
Prpf40a	T	C	2: 53,144,803	D749G	probably damaging	Het
Rhoh	T	C	5: 65,892,638	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,809,094		probably null	Het
Slc37a2	A	G	9: 37,233,684	I454T	probably damaging	Het
Smarca2	A	G	19: 26,716,137	D28G	probably damaging	Het
Socs4	T	C	14: 47,290,193	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980		probably null	Het
Thbd	T	C	2: 148,406,542	T469A	probably benign	Het
Thoc5	T	C	11: 4,922,027		probably null	Het
Vmn1r173	G	T	7: 23,702,896	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,454,381	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,556,189	E408G	probably damaging	Het
Yars	A	T	4: 129,215,259	I428F	probably damaging	Het
Zglp1	T	C	9: 21,067,039	E14G	possibly damaging	Het

Other mutations in Fmn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Fmn1	APN	2	113444467	intron	probably benign
IGL01520:Fmn1	APN	2	113444368	intron	probably benign
IGL02222:Fmn1	APN	2	113593109	missense	probably damaging	1.00
IGL02238:Fmn1	APN	2	113582125	missense	possibly damaging	0.90
IGL02373:Fmn1	APN	2	113364126	missense	unknown
IGL02490:Fmn1	APN	2	113529472	splice site	probably benign
IGL02506:Fmn1	APN	2	113525295	missense	unknown
IGL02684:Fmn1	APN	2	113525277	missense	unknown
IGL03008:Fmn1	APN	2	113365100	missense	unknown
IGL03058:Fmn1	APN	2	113441814	intron	probably benign
IGL03076:Fmn1	APN	2	113584092	missense	probably damaging	0.99
FR4304:Fmn1	UTSW	2	113525774	small insertion	probably benign
FR4304:Fmn1	UTSW	2	113525783	small insertion	probably benign
FR4342:Fmn1	UTSW	2	113525783	small insertion	probably benign
FR4589:Fmn1	UTSW	2	113525773	small insertion	probably benign
FR4589:Fmn1	UTSW	2	113525774	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525778	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525781	small insertion	probably benign
FR4737:Fmn1	UTSW	2	113525784	small insertion	probably benign
R0349:Fmn1	UTSW	2	113365796	missense	unknown
R0452:Fmn1	UTSW	2	113636779	missense	possibly damaging	0.46
R0529:Fmn1	UTSW	2	113707853	splice site	probably benign
R1215:Fmn1	UTSW	2	113693030	nonsense	probably null
R1471:Fmn1	UTSW	2	113693094	missense	possibly damaging	0.95
R1489:Fmn1	UTSW	2	113365212	missense	unknown
R1491:Fmn1	UTSW	2	113596369	missense	probably damaging	1.00
R1551:Fmn1	UTSW	2	113525862	missense	possibly damaging	0.70
R1558:Fmn1	UTSW	2	113693118	missense	possibly damaging	0.46
R1588:Fmn1	UTSW	2	113365698	missense	unknown
R1602:Fmn1	UTSW	2	113525623	missense	unknown
R1690:Fmn1	UTSW	2	113525482	missense	unknown
R1772:Fmn1	UTSW	2	113365355	missense	unknown
R1867:Fmn1	UTSW	2	113709438	missense	probably damaging	1.00
R1923:Fmn1	UTSW	2	113429721	intron	probably benign
R1941:Fmn1	UTSW	2	113365143	missense	unknown
R2019:Fmn1	UTSW	2	113364480	missense	unknown
R2140:Fmn1	UTSW	2	113595048	missense	probably benign	0.45
R2164:Fmn1	UTSW	2	113365617	missense	unknown
R2395:Fmn1	UTSW	2	113365181	missense	unknown
R2999:Fmn1	UTSW	2	113365094	missense	unknown
R3405:Fmn1	UTSW	2	113364348	missense	unknown
R3407:Fmn1	UTSW	2	113365055	missense	unknown
R3771:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3772:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3773:Fmn1	UTSW	2	113582118	missense	probably damaging	1.00
R3777:Fmn1	UTSW	2	113365122	missense	unknown
R4166:Fmn1	UTSW	2	113636735	missense	probably benign	0.33
R4477:Fmn1	UTSW	2	113444399	intron	probably benign
R4614:Fmn1	UTSW	2	113365149	missense	unknown
R4701:Fmn1	UTSW	2	113584071	missense	possibly damaging	0.76
R4867:Fmn1	UTSW	2	113584120	critical splice donor site	probably null
R5063:Fmn1	UTSW	2	113364921	missense	unknown
R5224:Fmn1	UTSW	2	113365125	missense	unknown
R5510:Fmn1	UTSW	2	113596369	missense	probably damaging	1.00
R6083:Fmn1	UTSW	2	113364303	missense	unknown
R6234:Fmn1	UTSW	2	113365655	missense	unknown
R6266:Fmn1	UTSW	2	113596338	missense	probably damaging	1.00
R6764:Fmn1	UTSW	2	113525215	missense	unknown
R7054:Fmn1	UTSW	2	113365008	missense	unknown
R7311:Fmn1	UTSW	2	113525680	missense	unknown
R7439:Fmn1	UTSW	2	113441611	missense	unknown
R7440:Fmn1	UTSW	2	113441611	missense	unknown
R7441:Fmn1	UTSW	2	113441611	missense	unknown
R7444:Fmn1	UTSW	2	113441611	missense	unknown
R7461:Fmn1	UTSW	2	113364071	missense	unknown
R7526:Fmn1	UTSW	2	113688134	missense	probably damaging	0.99
R7540:Fmn1	UTSW	2	113529310	splice site	probably null
R7576:Fmn1	UTSW	2	113365008	missense	unknown
R7657:Fmn1	UTSW	2	113525193	missense	unknown
R7669:Fmn1	UTSW	2	113365477	missense	unknown
R7713:Fmn1	UTSW	2	113525814	missense	unknown
R7841:Fmn1	UTSW	2	113529465	critical splice donor site	probably null
R7924:Fmn1	UTSW	2	113529465	critical splice donor site	probably null
R8041:Fmn1	UTSW	2	113364594	missense	unknown
RF003:Fmn1	UTSW	2	113525786	small insertion	probably benign
Z1088:Fmn1	UTSW	2	113441925	intron	probably benign

Posted On

2014-05-07