Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02712:Fmnl2'

304630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmnl2

Ensembl Gene

ENSMUSG00000036053

Gene Name

formin-like 2

Synonyms

5430425K04Rik, man

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02712

Quality Score

Status

Chromosome

Chromosomal Location

52857860-53133804 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 53036498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000155586]

AlphaFold

A2APV2

Predicted Effect

probably benign
Transcript: ENSMUST00000049483

SMART Domains

Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	8e-3	SMART
FH2	615	1052	1.66e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050719

SMART Domains

Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
low complexity region	549	568	N/A	INTRINSIC
FH2	581	1018	1.66e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090952

SMART Domains

Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	6e-3	SMART
FH2	615	1052	1.66e-124	SMART
low complexity region	1063	1075	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127122

SMART Domains

Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	7e-3	SMART
FH2	615	1052	1.66e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155586

SMART Domains

Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053

Domain	Start	End	E-Value	Type
Pfam:FH2	1	131	2e-33	PFAM

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 encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angel1	A	G	12: 86,722,839		probably benign	Het
Arhgef33	T	A	17: 80,360,373	V289D	probably damaging	Het
BC003331	A	G	1: 150,386,356		probably null	Het
Cabp5	A	G	7: 13,403,346	M93V	probably damaging	Het
Ces1a	A	C	8: 93,036,040	V201G	probably damaging	Het
Cisd1	A	G	10: 71,336,351	F34L	probably benign	Het
Cyp26a1	T	C	19: 37,699,978	L316P	probably damaging	Het
Ddx39	A	G	8: 83,721,757	I213V	probably benign	Het
Ddx59	A	T	1: 136,439,781	N542I	probably benign	Het
Dytn	T	C	1: 63,664,422	T233A	probably benign	Het
Fbxo7	A	G	10: 86,024,438	T49A	possibly damaging	Het
Golga2	G	T	2: 32,304,213	K610N	probably damaging	Het
Hipk4	T	C	7: 27,528,635	Y269H	probably damaging	Het
Ifi209	T	C	1: 173,642,701	V285A	possibly damaging	Het
Ifna1	A	G	4: 88,850,286	D67G	probably benign	Het
Map3k13	T	G	16: 21,905,255	V329G	probably damaging	Het
Mrm3	T	C	11: 76,243,857	W29R	possibly damaging	Het
Nos1ap	T	C	1: 170,329,251	I213V	possibly damaging	Het
Nphp4	C	T	4: 152,556,275	T1033M	probably damaging	Het
Nr5a2	T	C	1: 136,940,528		probably null	Het
Nrcam	A	G	12: 44,573,827	Y885C	probably damaging	Het
Olfr23	T	C	11: 73,940,930	V228A	probably benign	Het
Olfr983	T	C	9: 40,092,786	H60R	probably damaging	Het
Ovgp1	T	A	3: 105,986,513		probably benign	Het
Pdzd2	T	C	15: 12,376,027	S1341G	probably benign	Het
Pld2	T	G	11: 70,557,079	L856R	probably benign	Het
Plod1	A	G	4: 147,918,887	F494L	possibly damaging	Het
Pnkd	T	A	1: 74,349,868	S233T	possibly damaging	Het
Rnf144b	T	C	13: 47,239,779	I198T	probably damaging	Het
Rsc1a1	G	T	4: 141,685,065	Q179K	probably benign	Het
Slc5a10	C	T	11: 61,707,806	W249*	probably null	Het
Slc9a3r1	T	C	11: 115,177,234	V200A	possibly damaging	Het
Spata32	T	G	11: 103,208,147		probably benign	Het
Stk4	T	A	2: 164,096,897	H228Q	probably damaging	Het
Szt2	T	A	4: 118,384,833	Q1592L	probably benign	Het
Tnc	T	A	4: 63,975,256	I1598F	probably damaging	Het
Togaram2	A	T	17: 71,704,754	D476V	probably benign	Het
Ttll6	T	G	11: 96,139,775		probably benign	Het
Vmn2r118	A	G	17: 55,592,655	S750P	probably benign	Het
Zswim5	C	T	4: 116,985,695	T879I	probably damaging	Het

Other mutations in Fmnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Fmnl2	APN	2	53114917	missense	probably damaging	1.00
IGL00960:Fmnl2	APN	2	53123482	missense	probably damaging	0.98
IGL01343:Fmnl2	APN	2	53123545	missense	probably damaging	1.00
IGL01790:Fmnl2	APN	2	53118368	missense	probably damaging	1.00
IGL02555:Fmnl2	APN	2	53126851	critical splice acceptor site	probably null
IGL02613:Fmnl2	APN	2	53073735	critical splice donor site	probably null
IGL02715:Fmnl2	APN	2	53072210	missense	possibly damaging	0.93
IGL02750:Fmnl2	APN	2	53103697	missense	possibly damaging	0.95
IGL02832:Fmnl2	APN	2	52858249	missense	possibly damaging	0.90
IGL02975:Fmnl2	APN	2	53101482	missense	probably benign	0.45
Beefeater	UTSW	2	53073654	missense	unknown
waterloo	UTSW	2	53014848	missense	probably damaging	1.00
PIT4280001:Fmnl2	UTSW	2	53118196	missense	unknown
R0529:Fmnl2	UTSW	2	53042365	missense	probably damaging	1.00
R0571:Fmnl2	UTSW	2	53054491	missense	probably benign	0.01
R0707:Fmnl2	UTSW	2	53054486	missense	possibly damaging	0.85
R1172:Fmnl2	UTSW	2	53072274	missense	probably damaging	1.00
R1473:Fmnl2	UTSW	2	52858207	missense	possibly damaging	0.53
R1533:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1536:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1537:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1547:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1548:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1549:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1604:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1608:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R1615:Fmnl2	UTSW	2	53118424	missense	probably damaging	1.00
R1792:Fmnl2	UTSW	2	53042317	missense	possibly damaging	0.79
R1965:Fmnl2	UTSW	2	53114868	missense	probably damaging	1.00
R1970:Fmnl2	UTSW	2	53105576	missense	possibly damaging	0.93
R2012:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R2065:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R2111:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R2112:Fmnl2	UTSW	2	53105537	missense	probably damaging	1.00
R2427:Fmnl2	UTSW	2	53116979	missense	probably damaging	0.96
R4084:Fmnl2	UTSW	2	53107495	missense	possibly damaging	0.96
R4095:Fmnl2	UTSW	2	53101523	missense	probably damaging	0.99
R4607:Fmnl2	UTSW	2	53103716	missense	possibly damaging	0.94
R4608:Fmnl2	UTSW	2	53103716	missense	possibly damaging	0.94
R4720:Fmnl2	UTSW	2	53107540	missense	possibly damaging	0.96
R4731:Fmnl2	UTSW	2	53117069	missense	possibly damaging	0.95
R4947:Fmnl2	UTSW	2	53073710	missense	probably benign	0.32
R5015:Fmnl2	UTSW	2	53103761	missense	possibly damaging	0.85
R5402:Fmnl2	UTSW	2	53128782	missense	probably damaging	0.97
R5731:Fmnl2	UTSW	2	53118137	splice site	probably null
R5766:Fmnl2	UTSW	2	53101454	missense	probably damaging	1.00
R5945:Fmnl2	UTSW	2	53114199	missense	probably damaging	0.99
R6093:Fmnl2	UTSW	2	53114868	missense	probably damaging	1.00
R6210:Fmnl2	UTSW	2	53130445	missense	possibly damaging	0.94
R6287:Fmnl2	UTSW	2	53014848	missense	probably damaging	1.00
R6661:Fmnl2	UTSW	2	53108285	missense	probably damaging	0.98
R6967:Fmnl2	UTSW	2	53097332	missense	possibly damaging	0.88
R7006:Fmnl2	UTSW	2	53108254	missense	probably benign	0.27
R7146:Fmnl2	UTSW	2	53068540	missense
R7173:Fmnl2	UTSW	2	53114190	missense	unknown
R7176:Fmnl2	UTSW	2	53114150	missense	unknown
R7182:Fmnl2	UTSW	2	53107441	missense	unknown
R7201:Fmnl2	UTSW	2	53073654	missense	unknown
R7470:Fmnl2	UTSW	2	53042365	missense	probably damaging	1.00
R7481:Fmnl2	UTSW	2	53108431	missense	unknown
R7691:Fmnl2	UTSW	2	53101498	missense	unknown
R7699:Fmnl2	UTSW	2	53036508	missense
R7700:Fmnl2	UTSW	2	53036508	missense
R7722:Fmnl2	UTSW	2	53054467	missense
R7775:Fmnl2	UTSW	2	53073680	missense	unknown
R7824:Fmnl2	UTSW	2	53073680	missense	unknown
R8282:Fmnl2	UTSW	2	53107666	critical splice donor site	probably null
R8774:Fmnl2	UTSW	2	53042309	missense
R8774-TAIL:Fmnl2	UTSW	2	53042309	missense
R8816:Fmnl2	UTSW	2	53114202	missense	unknown
R8832:Fmnl2	UTSW	2	53054572	missense
R8868:Fmnl2	UTSW	2	53126065	missense	unknown
R8990:Fmnl2	UTSW	2	53126959	missense	unknown
R9412:Fmnl2	UTSW	2	53117004	missense	unknown
R9502:Fmnl2	UTSW	2	53108300	missense	unknown
R9532:Fmnl2	UTSW	2	53116929	missense	unknown
R9602:Fmnl2	UTSW	2	53123575	critical splice donor site	probably null
R9760:Fmnl2	UTSW	2	53054515	missense
Z1188:Fmnl2	UTSW	2	53114871	missense	unknown

Posted On

2015-04-16