Mutagenetix > Incidental Mutation

Incidental Mutation 'R4658:Fmnl1'

352617

Institutional Source

Beutler Lab

Gene Symbol

Fmnl1

Ensembl Gene

ENSMUSG00000055805

Gene Name

formin-like 1

Synonyms

formin-related gene in leukocytes, 8030453N10Rik

MMRRC Submission

041918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R4658 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103171107-103198901 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103197694 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 90 (I90F)

Ref Sequence

ENSEMBL: ENSMUSP00000133299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [ENSMUST00000174567] [ENSMUST00000218163]

AlphaFold

Q9JL26

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000021322

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: I1033F

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: I1033F

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: I1033F

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: I1033F

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 damaging
Transcript: ENSMUST00000129726
AA Change: I90F

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

SMART Domains

Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805
AA Change: I90F

Domain	Start	End	E-Value	Type
Pfam:FH2	1	50	8.2e-10	PFAM
low complexity region	124	139	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140559

Predicted Effect

probably benign
Transcript: ENSMUST00000172850

SMART Domains

Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
EFh	109	137	3.5e-1	SMART
EFh	145	173	3.2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174079

Predicted Effect

probably benign
Transcript: ENSMUST00000174567

SMART Domains

Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	153	209	5e-8	SMART
Blast:EFh	159	187	4e-12	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000218163
AA Change: I1039F

Meta Mutation Damage Score

0.2481

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (88/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,200,564	R778S	probably damaging	Het
Adam17	A	G	12: 21,332,160	C567R	probably damaging	Het
Ankrd28	G	A	14: 31,710,868	A758V	probably damaging	Het
Atrn	T	C	2: 130,933,429	Y151H	probably damaging	Het
B3gat3	A	G	19: 8,925,632	T118A	possibly damaging	Het
Camta1	A	G	4: 151,143,910	C822R	probably damaging	Het
Capn15	G	T	17: 25,960,768	Q807K	probably benign	Het
Clec12a	T	C	6: 129,354,530	Y145H	probably damaging	Het
Clk1	T	C	1: 58,412,987	I393V	probably benign	Het
Cpm	A	G	10: 117,668,051	I121V	probably benign	Het
Cux1	A	G	5: 136,250,594	I405T	possibly damaging	Het
Dnah3	A	G	7: 119,950,651	S3471P	probably damaging	Het
Dok6	A	G	18: 89,473,847		probably benign	Het
Eif4g1	A	T	16: 20,685,934	D1124V	possibly damaging	Het
Eif4g3	A	G	4: 138,206,132	E1756G	probably damaging	Het
Exo5	A	G	4: 120,922,551	V39A	probably benign	Het
Fryl	G	T	5: 73,081,053	T1450K	probably damaging	Het
Gde1	T	C	7: 118,694,528	M91V	probably benign	Het
Gimd1	T	C	3: 132,644,582	I84T	probably damaging	Het
Gm13889	C	T	2: 93,957,108		probably benign	Het
Gm6445	T	A	19: 9,608,197		noncoding transcript	Het
Gm8113	T	C	14: 43,932,410	S483P	probably damaging	Het
Grik2	T	C	10: 49,523,792	I281V	possibly damaging	Het
Grik5	T	C	7: 25,060,727		probably benign	Het
Herc1	A	T	9: 66,479,491	I3796F	possibly damaging	Het
Hoxb13	A	T	11: 96,194,483	D14V	probably benign	Het
Hspg2	A	G	4: 137,533,730	Y1645C	probably damaging	Het
Igkv8-16	G	T	6: 70,386,778	R87S	probably damaging	Het
Ints1	A	T	5: 139,774,299	V140E	possibly damaging	Het
Kbtbd11	C	A	8: 15,028,917	D505E	possibly damaging	Het
Kcnu1	G	A	8: 25,937,555	C300Y	probably damaging	Het
Kmt2d	G	C	15: 98,852,529		probably benign	Het
Lats1	T	C	10: 7,702,729	V539A	probably benign	Het
Lipo5	C	T	19: 33,464,522	G200D	unknown	Het
Lmo7	C	A	14: 101,886,957	A284D	probably damaging	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Mcpt8	T	C	14: 56,083,828	M60V	possibly damaging	Het
Mdn1	A	G	4: 32,730,749		probably null	Het
Mphosph10	A	G	7: 64,388,974		probably null	Het
Muc5b	G	A	7: 141,841,398	S47N	unknown	Het
Notch3	A	T	17: 32,154,763	N490K	probably damaging	Het
Nr1d1	G	A	11: 98,771,912	S85L	possibly damaging	Het
Obscn	T	A	11: 59,054,288	R4635*	probably null	Het
Olfr121	G	T	17: 37,752,163	C103F	probably damaging	Het
Olfr1504	T	C	19: 13,887,548	I221V	probably benign	Het
Olfr275	T	C	4: 52,826,240	L281P	probably damaging	Het
Pappa	G	A	4: 65,314,796		probably null	Het
Pcdhb17	G	A	18: 37,486,599	G481S	probably damaging	Het
Pde1a	TCC	TC	2: 79,898,181		probably benign	Het
Phf3	A	T	1: 30,863,088	M48K	probably damaging	Het
Pira2	A	T	7: 3,840,934	V613E	probably damaging	Het
Poc1a	T	C	9: 106,349,688	S327P	possibly damaging	Het
Ptpn9	A	G	9: 57,020,037	H66R	probably benign	Het
Rabgap1	C	T	2: 37,487,549	R353*	probably null	Het
Rcc1l	G	T	5: 134,171,890	N134K	probably damaging	Het
Rims1	G	A	1: 22,427,543	T787I	probably damaging	Het
Rreb1	T	G	13: 37,948,801	S1651A	probably damaging	Het
Rsl1d1	T	C	16: 11,201,374	D100G	probably damaging	Het
Samd4	C	T	14: 47,064,246	R147C	probably damaging	Het
Serpinb6e	T	C	13: 33,841,316		probably benign	Het
Ska1	T	C	18: 74,197,040	I210V	probably benign	Het
Slc17a1	A	G	13: 23,878,560	I237V	probably benign	Het
Slc22a4	A	T	11: 53,997,510	S231T	probably benign	Het
Slc7a4	T	A	16: 17,575,933	M66L	probably damaging	Het
Snapc1	A	G	12: 73,983,868	T381A	possibly damaging	Het
St6galnac2	C	T	11: 116,684,525		probably benign	Het
Taar2	C	T	10: 23,941,503	L314F	probably benign	Het
Tmem74b	A	G	2: 151,706,641	D96G	probably damaging	Het
Tnfrsf17	T	C	16: 11,313,969	F6S	probably benign	Het
Tpp2	G	T	1: 43,954,710	G252W	probably damaging	Het
Trf	A	G	9: 103,223,608	F209L	probably damaging	Het
Ttn	T	C	2: 76,898,591		probably benign	Het
Uhmk1	A	T	1: 170,207,205	H311Q	probably damaging	Het
Unc13c	G	T	9: 73,932,826	Q248K	probably damaging	Het
Uqcrc2	A	G	7: 120,650,921	Y253C	probably damaging	Het
Vmn2r117	A	G	17: 23,478,416	F101L	probably benign	Het
Vmn2r43	T	C	7: 8,255,071	N381S	probably benign	Het
Zfp879	T	A	11: 50,833,197	Y271F	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
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
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'- TTCTGCCCAGAGACAAGGAC -3'
(R):5'- TCAGCACTGAGGTTTTGAGGAATAG -3'

Sequencing Primer
(F):5'- GAGACAAGGACAGTGCCCC -3'
(R):5'- ACCAGGCATCTTGGCATATG -3'

Posted On

2015-10-08