Mutagenetix > Incidental Mutation

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: 0.108) 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 (GRCm38)

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]

AlphaFold

Q9JL26

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
archetypal	UTSW	11	103186627	missense	probably damaging	1.00
contractual	UTSW	11	103180915	missense	probably damaging	1.00
stylistic	UTSW	11	103193736	critical splice donor 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
R8921:Fmnl1	UTSW	11	103197141	missense	unknown
R8946:Fmnl1	UTSW	11	103180915	missense	probably damaging	1.00
R8968:Fmnl1	UTSW	11	103186618	small deletion	probably benign
R9114:Fmnl1	UTSW	11	103196501	missense	unknown

Posted On

2015-12-18