Mutagenetix > Incidental Mutations

Incidental Mutation 'R3883:Fmnl1'

308833

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

040796-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R3883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103182114 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 144 (N144D)

Ref Sequence

ENSEMBL: ENSMUSP00000151439 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042286
AA Change: N144D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: N144D

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: N144D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: N144D

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: N144D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2475

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (45/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	C	T	8: 46,527,191	S423L	probably benign	Het
Ankmy1	T	G	1: 92,886,152	E435A	probably damaging	Het
Ano5	T	A	7: 51,566,304	M343K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
C3	T	C	17: 57,217,173		probably null	Het
C530008M17Rik	T	A	5: 76,856,574	W261R	unknown	Het
Cdk17	T	C	10: 93,212,077		probably null	Het
Cntn2	A	G	1: 132,528,939	V123A	probably damaging	Het
Dchs1	A	G	7: 105,762,563	Y1449H	probably damaging	Het
Ddx42	T	A	11: 106,247,692	N772K	probably benign	Het
Dnah11	T	C	12: 117,978,453		probably benign	Het
Edn1	T	A	13: 42,301,906	F4L	probably benign	Het
Epb41l3	C	T	17: 69,274,116	R552*	probably null	Het
Epc1	T	C	18: 6,452,258	D267G	possibly damaging	Het
Fbxo22	A	T	9: 55,223,262	T169S	probably benign	Het
Folh1	A	G	7: 86,775,656	L35P	possibly damaging	Het
Gm10220	A	C	5: 26,116,910	S255A	possibly damaging	Het
Gm15446	G	T	5: 109,940,447	V9L	probably damaging	Het
Hipk2	A	G	6: 38,699,265	L1011P	probably damaging	Het
Kif4-ps	G	T	12: 101,146,214	V201L	probably damaging	Het
Klk1b16	T	C	7: 44,139,463	V40A	possibly damaging	Het
Lgsn	C	A	1: 31,176,459	D3E	probably benign	Het
Mavs	T	C	2: 131,245,298	S239P	probably benign	Het
Mkl2	T	A	16: 13,401,458	V667D	probably damaging	Het
Mtrf1	A	G	14: 79,419,267	Y403C	probably damaging	Het
Mycbp2	A	C	14: 103,295,250	L390V	probably damaging	Het
Neto2	A	G	8: 85,663,265	S190P	probably damaging	Het
Ngly1	A	G	14: 16,270,574	I195V	probably damaging	Het
Olfr1339	T	C	4: 118,734,685	I52T	probably benign	Het
Olfr961	A	G	9: 39,647,124	I133V	probably benign	Het
Pde4dip	T	C	3: 97,713,188	K1632E	probably damaging	Het
Pigk	T	C	3: 152,714,195	S21P	probably benign	Het
Rabggtb	A	G	3: 153,910,780	F82L	probably damaging	Het
Reep6	G	A	10: 80,335,535	R415Q	probably benign	Het
Serpinb13	T	C	1: 106,998,572	V159A	probably benign	Het
Slc5a8	T	A	10: 88,902,463	M196K	possibly damaging	Het
Sprr1a	G	A	3: 92,484,520	P58L	probably damaging	Het
Taf1a	A	T	1: 183,390,948	T10S	possibly damaging	Het
Tap1	T	A	17: 34,193,258	V479E	probably damaging	Het
Trpm4	C	T	7: 45,321,998		probably null	Het
Ush2a	T	C	1: 188,263,382	Y117H	probably benign	Het
Vmn2r58	A	T	7: 41,864,490	L243*	probably null	Het
Zbtb32	A	G	7: 30,591,144	I242T	probably benign	Het
Zbtb7a	T	C	10: 81,148,025	C434R	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGATTTCCATACACAGCTGG -3'
(R):5'- AGAGCCAAGTCCAGCTTTCC -3'

Sequencing Primer
(F):5'- TGCTCAGGCCCTCAGCATC -3'
(R):5'- CAGCTTTCCTGGGATGGG -3'

Posted On

2015-04-17