Mutagenetix > Incidental Mutation

Incidental Mutation 'R7862:Fmnl1'

607591

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: 0.108) question?

Stock #

R7862 (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 G at 103180930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 88 (K88E)

Ref Sequence

ENSEMBL: ENSMUSP00000046296 (fasta)

Gene Model

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

AlphaFold

Q9JL26

Predicted Effect

probably damaging
Transcript: ENSMUST00000042286
AA Change: K88E

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

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: K88E

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: K88E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: K88E

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: ENSMUST00000218163
AA Change: K88E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	C	3: 145,943,869	*181S	probably null	Het
Abcc10	G	T	17: 46,315,532	S661*	probably null	Het
Abtb2	C	T	2: 103,702,281	R475W	probably damaging	Het
Cep97	T	C	16: 55,905,721	D673G	probably benign	Het
Chaf1b	T	C	16: 93,888,095	M144T	possibly damaging	Het
Chd8	T	C	14: 52,214,277	D1372G	probably damaging	Het
Chmp6	G	A	11: 119,917,010		probably null	Het
Cst12	T	C	2: 148,789,575	V72A	probably damaging	Het
D1Pas1	G	A	1: 186,968,152	G93R	probably damaging	Het
Dhx34	C	A	7: 16,210,523	V589F	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmrta1	C	A	4: 89,688,324	H6N	probably benign	Het
Dopey2	T	C	16: 93,749,963	L285P	probably damaging	Het
Dpy19l1	T	C	9: 24,475,434	Y188C	probably damaging	Het
Ehbp1l1	C	T	19: 5,720,823	R230Q	probably benign	Het
Ep300	T	G	15: 81,650,753	V2337G	probably damaging	Het
Fh1	A	T	1: 175,614,834	V150E	probably damaging	Het
Fkbp11	G	A	15: 98,726,508	R122*	probably null	Het
Fkbp5	C	T	17: 28,412,039	E251K	probably damaging	Het
Frrs1	T	C	3: 116,891,880	V300A	possibly damaging	Het
Glud1	T	G	14: 34,325,522	L198V	possibly damaging	Het
Gsdmc	A	T	15: 63,777,996	W349R	possibly damaging	Het
Hacd1	T	C	2: 14,045,202	H64R	probably damaging	Het
Haus2	T	A	2: 120,613,089	D75E	probably benign	Het
Hmcn1	A	T	1: 150,806,421	F459L	probably damaging	Het
Ighe	A	T	12: 113,271,808	V272E		Het
Iqgap1	C	T	7: 80,743,888	R647H	probably benign	Het
Jmy	T	C	13: 93,499,195	I38V	possibly damaging	Het
Kcnh1	G	T	1: 192,190,859		probably benign	Het
Kctd20	C	T	17: 28,962,875	A167V	probably damaging	Het
Klhl38	A	T	15: 58,314,999	V525E	probably damaging	Het
Krit1	A	G	5: 3,812,788	D259G	probably damaging	Het
Med1	A	T	11: 98,161,210	C443S	probably benign	Het
Mllt6	T	C	11: 97,665,805	V107A	probably benign	Het
Myl7	A	G	11: 5,897,157	M132T	probably benign	Het
Myo10	T	C	15: 25,666,436	V11A	probably damaging	Het
Nipbl	T	C	15: 8,325,752	I1642V	probably benign	Het
Olfr1256	T	C	2: 89,835,124	T274A	probably benign	Het
Olfr807	T	C	10: 129,755,355	T32A	probably benign	Het
Olfr843	C	A	9: 19,249,440		probably benign	Het
Olfr918	C	T	9: 38,673,328	V39M	probably benign	Het
Pcdhb2	C	T	18: 37,296,060	A362V	probably benign	Het
Pnp2	A	T	14: 50,963,559	D167V	possibly damaging	Het
Rasa1	G	A	13: 85,255,411	T282I	probably damaging	Het
Rp1l1	A	G	14: 64,028,027	D354G	probably damaging	Het
Rpap1	C	T	2: 119,775,412		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Shank3	A	G	15: 89,505,445	D415G	possibly damaging	Het
Slc12a1	A	G	2: 125,161,094	I182V	probably damaging	Het
Slc6a13	A	G	6: 121,335,630	Y441C	probably damaging	Het
Sltm	G	T	9: 70,572,164	E193*	probably null	Het
Spag9	T	C	11: 94,112,066	I1134T	possibly damaging	Het
Spta1	G	A	1: 174,197,785		probably null	Het
Stk3	A	G	15: 35,115,586	V29A	possibly damaging	Het
Tgfbr1	A	T	4: 47,403,489	I365F	probably damaging	Het
Thpo	C	T	16: 20,728,790	V24I	probably benign	Het
Tle1	A	C	4: 72,199,315	L36R	probably damaging	Het
Togaram2	T	C	17: 71,689,173	V57A	probably benign	Het
Ttll9	C	T	2: 153,006,975	A459V	probably benign	Het
Ush1c	T	C	7: 46,221,424	I330V	probably damaging	Het
Usp34	T	C	11: 23,464,718	M2906T		Het
Vmn2r28	A	T	7: 5,490,614	M111K	probably benign	Het
Vmn2r97	T	C	17: 18,947,154	C557R	probably damaging	Het
Zfp873	T	A	10: 82,060,275	I280K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACATGGCCAAAGTTTGTGCC -3'
(R):5'- ATGTATGGACTCAGGGATACACAAG -3'

Sequencing Primer
(F):5'- GCCTTTGGTATTTCAGAAGCAG -3'
(R):5'- TCTATGCATGAATACACAGGGTGC -3'

Posted On

2019-12-20