Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03369:Fmnl1'

420245

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 103197182 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [ENSMUST00000174567] [ENSMUST00000218163]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000021322

Predicted Effect

probably benign
Transcript: ENSMUST00000021323

SMART Domains

Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	109	137	7.23e1	SMART
EFh	145	173	6.68e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000042286

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805

Domain	Start	End	E-Value	Type
Drf_GBD	27	280	1.04e-87	SMART
Drf_FH3	283	632	2.29e-75	SMART
FH2	627	1057	4.35e-142	SMART
low complexity region	1074	1087	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107026

SMART Domains

Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	40	68	7.23e1	SMART
EFh	76	104	6.68e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107027

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805

Domain	Start	End	E-Value	Type
Drf_GBD	27	280	1.04e-87	SMART
Drf_FH3	283	632	2.29e-75	SMART
FH2	627	1057	4.35e-142	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000129726

SMART Domains

Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805

Domain	Start	End	E-Value	Type
Pfam:FH2	1	50	8.2e-10	PFAM
low complexity region	124	139	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140559

Predicted Effect

probably benign
Transcript: ENSMUST00000172850

SMART Domains

Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	109	137	3.5e-1	SMART
EFh	145	173	3.2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174079

Predicted Effect

probably benign
Transcript: ENSMUST00000174567

SMART Domains

Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	153	209	5e-8	SMART
Blast:EFh	159	187	4e-12	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000218163

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Constitutive homozygous KO is embryonic lethal. Conditional homozygous KO in myeloid cells leads to reduced macrophage migration and podosome formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,356,421	N72S	possibly damaging	Het
A2m	G	A	6: 121,676,903		probably null	Het
Angptl3	A	T	4: 99,034,820		probably benign	Het
Aox4	A	G	1: 58,262,587	D1106G	probably benign	Het
Capn13	G	A	17: 73,341,154		probably benign	Het
Cep250	A	G	2: 155,990,271	H1371R	probably benign	Het
Chrna1	A	T	2: 73,570,445	F247Y	probably benign	Het
Col2a1	T	C	15: 97,982,042	T813A	unknown	Het
Dab2	T	C	15: 6,435,309	V414A	possibly damaging	Het
Dach2	T	C	X: 113,556,240		probably benign	Het
Fap	A	G	2: 62,503,355		probably benign	Het
Fgd5	T	A	6: 91,988,415	V385D	probably damaging	Het
Gm8765	G	T	13: 50,703,164	C946F	possibly damaging	Het
Gorasp2	G	A	2: 70,682,992	G201D	probably damaging	Het
Gp2	T	A	7: 119,451,560	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,043,162	I202V	probably damaging	Het
Gsta3	A	G	1: 21,264,949	K218R	probably benign	Het
Lama3	C	T	18: 12,553,283	T1195I	probably benign	Het
Map3k12	T	C	15: 102,502,079	R488G	possibly damaging	Het
Mapt	A	T	11: 104,282,433	Y18F	probably damaging	Het
Med21	T	C	6: 146,642,645	V12A	probably benign	Het
Mgat4b	A	G	11: 50,234,109	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,672,555	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,363,655	V75G	probably benign	Het
Neb	A	G	2: 52,178,037	Y5795H	probably benign	Het
Nup153	A	G	13: 46,700,983		probably null	Het
Olfr220	T	A	1: 174,448,869	I82N	probably damaging	Het
Olfr811	T	C	10: 129,802,471	D18G	probably damaging	Het
Plekhf2	G	T	4: 10,990,703	T213K	probably benign	Het
Plekho2	C	A	9: 65,559,494	G105W	probably damaging	Het
Polr3b	G	A	10: 84,676,952	G566D	probably damaging	Het
Rasgrf1	T	C	9: 90,010,451	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,421,468	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107	S469F	probably damaging	Het
Top1	A	T	2: 160,693,727	D182V	unknown	Het
Uckl1	T	C	2: 181,570,189	T375A	probably benign	Het
Usp53	A	T	3: 122,933,721		probably benign	Het
Vmn2r61	T	A	7: 42,260,093	I14N	probably benign	Het
Wbp4	A	T	14: 79,470,118	N184K	probably damaging	Het

Other mutations in Fmnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Fmnl1	APN	11	103197340	nonsense	probably null
IGL00972:Fmnl1	APN	11	103180955	missense	probably damaging	1.00
IGL01406:Fmnl1	APN	11	103194690	unclassified	probably benign
IGL01417:Fmnl1	APN	11	103196694	unclassified	probably benign
IGL01599:Fmnl1	APN	11	103186656	missense	probably damaging	1.00
IGL02151:Fmnl1	APN	11	103192772	missense	probably benign	0.38
IGL02324:Fmnl1	APN	11	103179538	missense	probably damaging	1.00
IGL02812:Fmnl1	APN	11	103196766	unclassified	probably benign
R0077:Fmnl1	UTSW	11	103189969	missense	probably damaging	1.00
R0241:Fmnl1	UTSW	11	103182170	critical splice donor site	probably null
R0241:Fmnl1	UTSW	11	103182170	critical splice donor site	probably null
R0413:Fmnl1	UTSW	11	103194063	splice site	probably benign
R1170:Fmnl1	UTSW	11	103197370	missense	probably benign	0.02
R1389:Fmnl1	UTSW	11	103186709	splice site	probably null
R1794:Fmnl1	UTSW	11	103197147	missense	probably benign	0.00
R2082:Fmnl1	UTSW	11	103192025	missense	probably damaging	1.00
R2105:Fmnl1	UTSW	11	103194692	missense	probably benign	0.39
R3611:Fmnl1	UTSW	11	103194765	unclassified	probably benign
R3883:Fmnl1	UTSW	11	103182114	missense	probably damaging	1.00
R3893:Fmnl1	UTSW	11	103196757	unclassified	probably benign
R4658:Fmnl1	UTSW	11	103197694	missense	probably damaging	1.00
R4689:Fmnl1	UTSW	11	103193736	critical splice donor site	probably null
R4812:Fmnl1	UTSW	11	103198564	unclassified	probably benign
R4996:Fmnl1	UTSW	11	103182656	missense	possibly damaging	0.58
R5646:Fmnl1	UTSW	11	103196512	unclassified	probably benign
R5702:Fmnl1	UTSW	11	103185665	missense	probably damaging	1.00
R5850:Fmnl1	UTSW	11	103195285	unclassified	probably benign
R5903:Fmnl1	UTSW	11	103171444	splice site	probably null
R6254:Fmnl1	UTSW	11	103196315	unclassified	probably benign
R6958:Fmnl1	UTSW	11	103171314	start codon destroyed	probably null	1.00
R7030:Fmnl1	UTSW	11	103194774	unclassified	probably benign
R7133:Fmnl1	UTSW	11	103181784	critical splice donor site	probably null
R7171:Fmnl1	UTSW	11	103190398	missense	probably damaging	1.00
R7224:Fmnl1	UTSW	11	103182769	critical splice donor site	probably null
R7282:Fmnl1	UTSW	11	103196265	missense	unknown
R7448:Fmnl1	UTSW	11	103186627	missense	probably damaging	1.00
R7463:Fmnl1	UTSW	11	103193128	missense	probably damaging	1.00

Posted On

2016-08-02