Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00424:Fmnl1'

4486

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: 0.125) question?

Stock #

IGL00424

Quality Score

Status

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 103197340 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 1008 (W1008*)

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
AA Change: W1002*

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: W1002*

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
AA Change: W1002*

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: W1002*

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
AA Change: W59*

SMART Domains

Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805
AA Change: W59*

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
AA Change: W1008*

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 138,282,499	E108G	probably benign	Het
Afap1l2	A	G	19: 57,002,308		probably benign	Het
Als2cl	T	C	9: 110,886,539		probably null	Het
Bpifb1	A	G	2: 154,217,167		probably benign	Het
Cux2	G	A	5: 121,868,538	R890W	possibly damaging	Het
Fancb	A	C	X: 164,983,338	Q272P	probably damaging	Het
Gfra2	T	A	14: 70,968,239		probably benign	Het
Gjd2	A	G	2: 114,011,777	I73T	probably damaging	Het
Itgae	T	C	11: 73,145,635	I1133T	probably benign	Het
Kcnh1	T	A	1: 192,418,882	V594E	probably damaging	Het
Maml2	T	A	9: 13,620,912	V474E	probably damaging	Het
Mysm1	G	A	4: 94,972,909		probably benign	Het
Ntrk3	C	T	7: 78,250,873	A573T	probably benign	Het
Pi4kb	A	G	3: 95,004,263	D348G	probably damaging	Het
Prol1	A	G	5: 88,327,859	Y36C	probably benign	Het
Rfx6	T	A	10: 51,681,886	C152S	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Tnxb	T	G	17: 34,714,692	F2362C	probably damaging	Het
Tpr	T	A	1: 150,398,595		probably benign	Het
Trf	G	A	9: 103,226,936	A76V	probably damaging	Het
Tubgcp3	C	T	8: 12,621,809	R811H	probably benign	Het
Zfp820	A	T	17: 21,819,311	H345Q	probably damaging	Het

Other mutations in Fmnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03369:Fmnl1	APN	11	103197182	splice site	probably null
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
R7831:Fmnl1	UTSW	11	103198173	missense	unknown
R7862:Fmnl1	UTSW	11	103180930	missense	probably damaging	1.00
R7973:Fmnl1	UTSW	11	103171158	start gained	probably benign
R8177:Fmnl1	UTSW	11	103189959	missense	probably damaging	0.98
R8273:Fmnl1	UTSW	11	103186699	missense	probably damaging	1.00
R8345:Fmnl1	UTSW	11	103186614	missense	possibly damaging	0.88
R8507:Fmnl1	UTSW	11	103194033	missense	unknown

Posted On

2012-04-20