Mutagenetix > Incidental Mutation

Incidental Mutation 'R8507:Fmnl1'

655655

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

067843-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R8507 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103194033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 659 (N659I)

Ref Sequence

ENSEMBL: ENSMUSP00000046296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000218163]

AlphaFold

Q9JL26

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: N659I

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: N659I

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: N659I

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: N659I

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

unknown
Transcript: ENSMUST00000218163
AA Change: N665I

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	G	14: 68,526,324	C126R	probably damaging	Het
Agpat5	G	A	8: 18,878,027	V203I	possibly damaging	Het
Ankrd12	T	A	17: 65,986,909	R510*	probably null	Het
Anxa6	C	T	11: 55,013,870	A22T	probably benign	Het
Barx2	A	T	9: 31,859,013	L73Q	probably damaging	Het
BC024139	T	C	15: 76,120,133	K702R	possibly damaging	Het
Cc2d1a	T	C	8: 84,134,976	K739R	probably benign	Het
Cdk12	A	G	11: 98,250,285	T1451A	unknown	Het
Chd7	A	G	4: 8,858,675	E2367G	probably damaging	Het
Cp	A	G	3: 19,971,029	Y384C	probably damaging	Het
Dnah14	T	A	1: 181,641,414	W1270R	probably benign	Het
Dyrk2	G	T	10: 118,860,662	S230R	probably damaging	Het
Epn3	A	T	11: 94,493,776	S290R	probably damaging	Het
Fas	C	T	19: 34,327,226	R296C	probably benign	Het
Gas8	T	C	8: 123,531,038		probably null	Het
Gpr156	A	G	16: 37,948,236	T40A	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Htr3b	C	A	9: 48,964,877		probably benign	Het
Itgal	C	T	7: 127,329,435	T1044I	probably benign	Het
Kcnip4	T	G	5: 48,482,655	D38A	possibly damaging	Het
Kcnma1	G	T	14: 23,591,638	Q216K	probably benign	Het
Kdsr	T	A	1: 106,743,670	E203V	probably null	Het
Lrp1b	T	C	2: 41,408,375	E999G		Het
Malt1	T	A	18: 65,470,523	W577R	probably damaging	Het
Mroh2b	A	C	15: 4,949,090	T1373P	probably damaging	Het
Mymk	A	G	2: 27,062,700		probably null	Het
Myo1f	T	A	17: 33,598,018	H707Q	probably benign	Het
Ncam2	C	A	16: 81,512,979	H452Q	possibly damaging	Het
Ndrg4	A	G	8: 95,678,347	M1V	probably null	Het
Nps	C	T	7: 135,272,350	S83L	probably damaging	Het
Nup155	T	A	15: 8,147,560	Y1040*	probably null	Het
Olfr1303	T	C	2: 111,814,706	T7A	probably benign	Het
Olfr190	C	T	16: 59,074,880	V67M	possibly damaging	Het
Olfr316	C	T	11: 58,758,159	Q165*	probably null	Het
Olfr344	T	C	2: 36,569,431	Y278H	probably damaging	Het
Pak1ip1	G	A	13: 41,009,294	R191Q	probably benign	Het
Pcdh17	G	A	14: 84,445,944		probably benign	Het
Pcdhgc5	G	T	18: 37,819,892	R73L	probably benign	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Plxnd1	A	T	6: 115,966,905	N1144K	probably damaging	Het
Ppp1r1b	G	T	11: 98,355,484	E133D	probably damaging	Het
Ptpn13	A	G	5: 103,557,949	E1396G	probably damaging	Het
Reps1	T	C	10: 18,094,470	S272P	probably damaging	Het
Ric8b	T	C	10: 84,980,175	V430A	probably damaging	Het
Sept10	A	T	10: 59,177,003	N264K	possibly damaging	Het
Sgms1	A	T	19: 32,159,709	F152L	probably benign	Het
Snapc1	C	A	12: 73,964,732	F57L	probably damaging	Het
Spidr	A	G	16: 15,968,676	L401P	probably damaging	Het
Spn	C	T	7: 127,136,556	V260M	probably damaging	Het
Sptan1	G	A	2: 30,026,584	A2095T	probably damaging	Het
Ssfa2	A	G	2: 79,644,864	Q389R	probably benign	Het
Tbc1d15	A	G	10: 115,202,502		probably null	Het
Thsd7b	T	A	1: 129,678,053	F510L	probably benign	Het
Trpm5	T	A	7: 143,078,313	I920F	probably damaging	Het
Tspear	C	A	10: 77,875,064	H507N	probably benign	Het
Vmn2r108	T	A	17: 20,462,933	K670*	probably null	Het
Vmn2r75	A	T	7: 86,148,477	C709*	probably null	Het
Wdfy3	G	T	5: 101,872,901	S2494R	probably benign	Het
Zfp456	A	T	13: 67,366,989	F199L	probably damaging	Het
Zfp830	A	G	11: 82,764,703	Q111R	probably benign	Het
Znrf1	G	A	8: 111,537,210	A24T	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
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
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
R9696:Fmnl1	UTSW	11	103195471	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCCTCTCCACTGAAGAGTC -3'
(R):5'- GATACTGCCTTCTCCTGTCAAG -3'

Sequencing Primer
(F):5'- CCACTGAAGAGTCTCTATTGCC -3'
(R):5'- TCAAGGCTTGGAGTCTAGCTAAC -3'

Posted On

2020-10-20