Mutagenetix > Incidental Mutations

Incidental Mutation 'R8273:Fmnl1'

637863

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103186699 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 295 (F295S)

Ref Sequence

ENSEMBL: ENSMUSP00000046296 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042286
AA Change: F295S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: F295S

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: F295S

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

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: F295S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 138,066,450	V467I	probably benign	Het
Ank1	G	A	8: 23,085,652	G167E	probably damaging	Het
Ano2	G	A	6: 125,982,720	V648M	probably damaging	Het
Ap3b2	A	G	7: 81,463,242	C954R	unknown	Het
Atp13a4	T	G	16: 29,471,902	Y243S		Het
Bend3	T	G	10: 43,510,903	C431G	probably damaging	Het
Ccdc57	G	A	11: 120,921,773	R52C	probably damaging	Het
Ccl22	T	C	8: 94,746,991	W55R	probably damaging	Het
Ccnk	A	G	12: 108,186,499	Y25C	probably damaging	Het
Cntnap5a	C	T	1: 116,571,541	P1174S	probably damaging	Het
Copa	T	C	1: 172,118,979		probably null	Het
Copg2	C	T	6: 30,816,126	V425M	probably benign	Het
Dnah6	T	C	6: 73,076,599	E2936G	probably benign	Het
Dnah6	T	A	6: 73,195,681	T265S	probably benign	Het
Erc2	A	G	14: 27,777,139	D324G	probably benign	Het
F11	T	A	8: 45,248,607	H363L	possibly damaging	Het
F7	T	C	8: 13,033,981	V222A	probably benign	Het
Fars2	A	G	13: 36,410,110	D366G	probably damaging	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flot2	A	G	11: 78,059,195	I417V	probably benign	Het
Gpr89	G	A	3: 96,905,189	T12I	probably benign	Het
Gprc6a	T	C	10: 51,631,274	D53G	probably benign	Het
Gtf2e1	T	A	16: 37,522,851	I184F	probably damaging	Het
Gtf2h1	G	A	7: 46,805,050	R152H	probably benign	Het
Haus3	A	G	5: 34,154,091	F532L	probably benign	Het
Inpp4a	A	G	1: 37,368,439		probably benign	Het
Klc4	A	T	17: 46,642,154	L150Q	possibly damaging	Het
Lzts3	C	T	2: 130,634,881	R549Q	possibly damaging	Het
Mbd5	T	A	2: 49,278,879	L1354Q	probably damaging	Het
Mtus2	A	G	5: 148,107,005	D801G	probably damaging	Het
Muc6	T	A	7: 141,640,528	T1411S	unknown	Het
Nalcn	C	A	14: 123,317,024	G954C	probably damaging	Het
Nlrp9b	G	A	7: 20,024,061	E408K	possibly damaging	Het
Oaz3	A	G	3: 94,435,127	L119P	probably damaging	Het
Olfr1361	A	G	13: 21,659,207	F39L	probably damaging	Het
Pcdhgb5	T	C	18: 37,732,187	V345A	probably benign	Het
Pdzph1	A	T	17: 58,973,014	Y758N	probably benign	Het
Pea15a	T	A	1: 172,199,245	H65L	probably damaging	Het
Pigm	T	A	1: 172,377,957	I420N	probably benign	Het
Pign	A	G	1: 105,589,078	F580L	probably benign	Het
Pkhd1	T	C	1: 20,537,420		probably benign	Het
Plxnc1	T	C	10: 94,813,243	N1225D	probably benign	Het
Rbbp6	G	A	7: 122,990,324	D412N	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rtl1	A	G	12: 109,592,715	Y897H	possibly damaging	Het
Scube2	A	T	7: 109,809,176	F688Y	probably benign	Het
Sgol2b	C	A	8: 63,924,701	R1166L	unknown	Het
Slc12a2	G	T	18: 57,914,266		probably benign	Het
Smpdl3b	T	A	4: 132,738,401	H236L	probably damaging	Het
Spata9	C	A	13: 75,977,547		probably benign	Het
St6galnac4	A	G	2: 32,587,655		probably benign	Het
Stc2	T	A	11: 31,369,777	N29I	possibly damaging	Het
Sun5	A	T	2: 153,865,323	M145K	possibly damaging	Het
Tas2r106	T	C	6: 131,678,055	I278V	probably damaging	Het
Trrap	A	G	5: 144,791,165	I565M	probably damaging	Het
Ttl	A	G	2: 129,068,933	K79R	probably benign	Het
Ttn	A	T	2: 76,907,377	Y4319N	unknown	Het
Usp28	T	C	9: 49,026,882	L584P	probably damaging	Het
Wdr27	A	G	17: 14,829,576	S777P	probably benign	Het
Wdr34	A	T	2: 30,031,891	V486D	probably damaging	Het
Wee1	A	G	7: 110,124,484	D202G	probably benign	Het
Wnt5a	T	C	14: 28,522,605	Y270H	probably damaging	Het
Zfp318	G	A	17: 46,412,375	C1768Y	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
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
R8345:Fmnl1	UTSW	11	103186614	missense	possibly damaging	0.88
R8507:Fmnl1	UTSW	11	103194033	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCCAGCCTGTGTCAATGAG -3'
(R):5'- AAACCTGACATTCTGAATTTCCCC -3'

Sequencing Primer
(F):5'- GTGTCAATGAGATCGCTCTAAGCC -3'
(R):5'- GAATTTCCCCATCCCAATATCCTGTG -3'

Posted On

2020-07-28