Mutagenetix > Incidental Mutations

Incidental Mutation 'R5702:Fmnl1'

451760

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

043182-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R5702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103185665 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 219 (I219T)

Ref Sequence

ENSEMBL: ENSMUSP00000046296 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042286
AA Change: I219T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: I219T

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: I219T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: I219T

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

possibly damaging
Transcript: ENSMUST00000218163
AA Change: I225T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	A	9: 92,343,688		probably null	Het
Abcb1a	G	A	5: 8,737,752	S1018N	probably benign	Het
Adat1	G	T	8: 111,978,072	T414K	probably benign	Het
AF529169	G	A	9: 89,591,155	A901V	probably benign	Het
Ahnak	G	T	19: 9,001,840	V163L	probably damaging	Het
Atf6b	T	C	17: 34,651,004	I288T	possibly damaging	Het
Blm	A	T	7: 80,458,927	V1323E	probably benign	Het
Brap	T	A	5: 121,665,143	L118Q	probably damaging	Het
C1qbp	G	A	11: 70,978,744	T171I	probably benign	Het
Ccdc136	C	A	6: 29,412,982	H455Q	probably damaging	Het
Chd3	A	T	11: 69,361,435	V47D	possibly damaging	Het
Cnot10	A	C	9: 114,629,010	F143V	probably damaging	Het
Cnot8	T	C	11: 58,114,047	S191P	possibly damaging	Het
Coro2b	G	A	9: 62,426,577	T345I	probably damaging	Het
Dennd1b	T	C	1: 139,133,675	I365T	probably damaging	Het
Dnah11	C	A	12: 118,113,907	A1284S	probably benign	Het
Dock4	G	A	12: 40,737,491	D802N	probably benign	Het
Dsg1a	T	C	18: 20,336,865		probably null	Het
Elp3	C	T	14: 65,577,982	R187Q	probably damaging	Het
Ercc3	G	A	18: 32,254,153	R473Q	probably damaging	Het
F5	G	A	1: 164,194,547	W1530*	probably null	Het
Gemin4	G	A	11: 76,210,837	R1033C	probably benign	Het
Gm2381	T	A	7: 42,822,396	I20F	probably benign	Het
Hmgcll1	A	G	9: 76,084,390	M129V	possibly damaging	Het
Ltbp3	G	T	19: 5,747,821	R496L	probably benign	Het
Mettl13	A	G	1: 162,545,980	V234A	probably benign	Het
Olfr350	A	G	2: 36,850,934	D296G	probably damaging	Het
Pde7a	A	T	3: 19,241,207	C146*	probably null	Het
Pla2g4e	T	A	2: 120,188,511	N202Y	possibly damaging	Het
Plk5	G	A	10: 80,360,567		probably null	Het
Ptpn7	A	G	1: 135,133,844	T15A	probably benign	Het
Rrn3	T	A	16: 13,813,266	Y655*	probably null	Het
Scarb2	C	T	5: 92,451,396	G355D	probably damaging	Het
Scd2	G	A	19: 44,298,063	A111T	possibly damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Smurf1	T	C	5: 144,901,211	T57A	possibly damaging	Het
Spire2	C	T	8: 123,346,663	P94S	probably benign	Het
Tex2	T	C	11: 106,544,395	H237R	possibly damaging	Het
Vmn2r109	T	C	17: 20,554,145	D316G	probably benign	Het
Zfp830	T	A	11: 82,764,974	F201L	possibly damaging	Het
Zic1	A	G	9: 91,364,080	F313S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACAGCAGCTTAGAGTTCCTAG -3'
(R):5'- AATCAAACCCAGGGCTTTCC -3'

Sequencing Primer
(F):5'- GCAGCTTAGAGTTCCTAGATCGATC -3'
(R):5'- CAGGCTCGTAGGGTTCCAG -3'

Posted On

2017-01-03