Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00972:Fmnl1'

28640

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 #

IGL00972

Quality Score

Status

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103180955 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 96 (V96A)

Ref Sequence

ENSEMBL: ENSMUSP00000046296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042286] [ENSMUST00000107027] [ENSMUST00000218163]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042286
AA Change: V96A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: V96A

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 damaging
Transcript: ENSMUST00000107027
AA Change: V96A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: V96A

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

noncoding transcript
Transcript: ENSMUST00000126425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154871

Predicted Effect

probably damaging
Transcript: ENSMUST00000218163
AA Change: V96A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,610,691	F23L	probably damaging	Het
Abcf3	A	T	16: 20,551,684	M320L	probably damaging	Het
Adam4	A	T	12: 81,420,649	H399Q	probably damaging	Het
Ank1	A	G	8: 23,141,644	K140E	probably damaging	Het
Atg2a	G	A	19: 6,254,599	C1162Y	probably damaging	Het
Atp2b1	T	A	10: 99,015,044	I34N	probably damaging	Het
Bin1	A	T	18: 32,424,834	E260V	probably benign	Het
Birc2	G	A	9: 7,833,715	S255L	probably benign	Het
Cdc42bpa	A	G	1: 180,074,684	Q502R	probably benign	Het
Cep170	A	G	1: 176,735,696	V1584A	probably benign	Het
Commd3	A	T	2: 18,674,665	R120S	probably benign	Het
Cyp39a1	A	T	17: 43,701,543	I304L	probably benign	Het
Cyp3a44	A	T	5: 145,779,724	M352K	possibly damaging	Het
Dna2	T	C	10: 62,950,823	Y117H	probably benign	Het
Dnah6	A	G	6: 73,083,157		probably benign	Het
Dsc1	G	A	18: 20,088,363	P685L	probably benign	Het
Efna5	T	A	17: 62,613,379	I168L	possibly damaging	Het
Ephx1	A	G	1: 180,999,800	F96S	probably benign	Het
Fig4	A	T	10: 41,251,788	I560K	probably damaging	Het
Fktn	T	A	4: 53,734,992	I210N	probably damaging	Het
Gabra1	T	G	11: 42,133,626	E407D	probably benign	Het
Gm5277	A	T	3: 78,892,286		noncoding transcript	Het
H2-M10.5	A	T	17: 36,773,335	E63V	possibly damaging	Het
Icam5	T	A	9: 21,034,697	V275E	probably damaging	Het
Kel	G	A	6: 41,688,066	A588V	possibly damaging	Het
Klra5	T	A	6: 129,906,605	E96D	probably damaging	Het
Limd1	C	T	9: 123,480,076	T280I	probably benign	Het
Mul1	C	A	4: 138,438,317	S95*	probably null	Het
Nlrp4a	T	C	7: 26,457,048	S733P	probably benign	Het
Ntn1	T	A	11: 68,213,272	I517F	possibly damaging	Het
Ntrk3	T	A	7: 78,247,322	M656L	possibly damaging	Het
Oacyl	T	G	18: 65,725,501	L226R	possibly damaging	Het
Olfr1314	A	T	2: 112,092,094	N202K	probably damaging	Het
Olfr1378	A	T	11: 50,969,119	M34L	probably benign	Het
Olfr199	A	G	16: 59,216,466	I49T	probably damaging	Het
Pibf1	T	A	14: 99,179,449	L486*	probably null	Het
Pla2g4c	A	G	7: 13,340,658	Y253C	probably benign	Het
Rims3	C	A	4: 120,891,386	A268E	probably benign	Het
Rpl12	T	C	2: 32,963,747	I129T	probably benign	Het
Rsl1	A	T	13: 67,181,798	K103N	probably benign	Het
Scn11a	A	T	9: 119,793,938	W612R	probably benign	Het
Sdk2	G	A	11: 113,854,384	T695M	possibly damaging	Het
Slc17a1	T	A	13: 23,878,454		probably benign	Het
Stam	A	T	2: 14,115,968		probably benign	Het
Tacr3	T	G	3: 134,932,355	N424K	probably benign	Het
Tas1r2	C	T	4: 139,660,036	R240W	probably damaging	Het
Tle1	T	C	4: 72,122,400	R648G	probably damaging	Het
Tmem92	T	C	11: 94,782,428	D3G	possibly damaging	Het
Trip11	T	C	12: 101,894,337	I250V	probably null	Het
Tspan8	C	T	10: 115,844,139		probably benign	Het
Vmn1r128	A	G	7: 21,350,076	E235G	probably benign	Het
Vmn1r220	A	G	13: 23,184,388	L46P	probably damaging	Het
Vmn2r9	T	C	5: 108,849,037	E122G	probably benign	Het
Zfp27	A	T	7: 29,894,958	N527K	probably damaging	Het

Other mutations in Fmnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Fmnl1	APN	11	103197340	nonsense	probably null
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

2013-04-17