Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02812:Fmnl1'

360608

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: 0.127) question?

Stock #

IGL02812

Quality Score

Status

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 103196766 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134292 (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

unknown
Transcript: ENSMUST00000042286
AA Change: D932G

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: D932G

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

unknown
Transcript: ENSMUST00000107027
AA Change: D932G

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: D932G

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 benign
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

unknown
Transcript: ENSMUST00000218163
AA Change: D938G

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,728	I224T	probably damaging	Het
Abca7	G	T	10: 80,006,047	V1005L	possibly damaging	Het
Abcc9	A	G	6: 142,697,790	S11P	possibly damaging	Het
Acsl1	A	T	8: 46,492,836	E2V	possibly damaging	Het
AI314180	T	A	4: 58,864,343		probably benign	Het
Aox3	G	A	1: 58,165,896	V757I	probably benign	Het
Aqp4	T	C	18: 15,397,575		probably null	Het
Arhgef7	A	G	8: 11,781,245		probably benign	Het
Armc9	T	A	1: 86,244,571	D2E	probably damaging	Het
Celsr2	G	A	3: 108,414,113	P461L	probably benign	Het
Cep170	T	C	1: 176,742,514	D1339G	probably damaging	Het
Clk1	T	A	1: 58,414,476	N317I	probably damaging	Het
Comp	G	A	8: 70,376,687	G305S	possibly damaging	Het
Depdc5	G	A	5: 32,893,368		probably benign	Het
Dse	T	C	10: 34,183,716	E131G	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Epha2	A	G	4: 141,318,919		probably benign	Het
Gbp9	T	C	5: 105,083,758	N321D	probably damaging	Het
Gm5884	A	G	6: 128,645,775		noncoding transcript	Het
Gp2	A	T	7: 119,452,229	N254K	probably benign	Het
Hgh1	T	A	15: 76,369,554		probably null	Het
Inpp5f	A	G	7: 128,682,306	N543S	probably damaging	Het
Ints7	T	C	1: 191,619,741	V854A	probably damaging	Het
Itgb1bp1	T	G	12: 21,270,878		probably benign	Het
Lrrtm4	A	T	6: 80,021,964	N120Y	probably damaging	Het
Map3k5	T	C	10: 20,025,036	S319P	probably damaging	Het
Mc4r	A	G	18: 66,859,247	L265S	probably damaging	Het
Morc1	T	C	16: 48,558,506		probably benign	Het
Mre11a	T	A	9: 14,790,670		probably null	Het
Msh4	T	C	3: 153,901,400		probably benign	Het
Mterf4	A	G	1: 93,304,733	L132P	probably damaging	Het
Myo15	A	T	11: 60,477,179	E255V	probably benign	Het
Myot	T	C	18: 44,346,060	V288A	probably damaging	Het
Nipa2	T	C	7: 55,943,018	Y53C	probably damaging	Het
Npas1	T	A	7: 16,456,116	I502F	probably damaging	Het
Olfr1389	T	A	11: 49,430,922	W149R	probably damaging	Het
Olfr536	C	T	7: 140,503,620	V280M	probably damaging	Het
Osbp2	A	G	11: 3,714,637	V565A	probably benign	Het
Otof	A	G	5: 30,374,082	S1666P	probably benign	Het
Per3	A	C	4: 151,024,470	S476A	probably damaging	Het
Pja2	T	C	17: 64,297,794	N465D	probably damaging	Het
Pla2g4c	T	C	7: 13,348,365	F512S	probably damaging	Het
Plcd4	T	A	1: 74,557,808	L403Q	probably damaging	Het
Psg26	T	C	7: 18,475,155	T443A	probably benign	Het
Snapc4	T	A	2: 26,369,372	T589S	probably benign	Het
Spag8	G	A	4: 43,651,755	R404W	probably damaging	Het
Tdrd7	A	G	4: 45,994,406	D268G	probably benign	Het
Tfap2d	A	G	1: 19,142,927	H325R	possibly damaging	Het
Vmn1r59	C	T	7: 5,454,177	V195I	probably damaging	Het
Vmn1r67	G	A	7: 10,447,018	E70K	probably benign	Het
Wdr18	T	A	10: 79,961,064	N91K	possibly damaging	Het
Zbtb7b	T	C	3: 89,379,774	T463A	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
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

2015-12-18