Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Fscn1'

541876

Institutional Source

Beutler Lab

Gene Symbol

Fscn1

Ensembl Gene

ENSMUSG00000029581

Gene Name

fascin actin-bundling protein 1

Synonyms

Fan1, fascin-1

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R6964 (G1)

Quality Score

164.009

Status

Not validated

Chromosome

Chromosomal Location

142960343-142973185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142960660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 71 (A71V)

Ref Sequence

ENSEMBL: ENSMUSP00000031565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031565] [ENSMUST00000198017]

AlphaFold

Q61553

Predicted Effect

probably damaging
Transcript: ENSMUST00000031565
AA Change: A71V

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

SMART Domains

Protein: ENSMUSP00000031565
Gene: ENSMUSG00000029581
AA Change: A71V

Domain	Start	End	E-Value	Type
Pfam:Fascin	20	134	1.9e-37	PFAM
Pfam:Fascin	142	256	4.1e-30	PFAM
Pfam:Fascin	268	378	1.3e-36	PFAM
Pfam:Fascin	391	493	9.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129306

SMART Domains

Protein: ENSMUSP00000122862
Gene: ENSMUSG00000029581

Domain	Start	End	E-Value	Type
Pfam:Fascin	16	126	1.1e-37	PFAM
Pfam:Fascin	139	241	8.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198017

SMART Domains

Protein: ENSMUSP00000142509
Gene: ENSMUSG00000029581

Domain	Start	End	E-Value	Type
Pfam:Fascin	20	74	2.3e-12	PFAM
Pfam:Fascin	107	217	7.3e-34	PFAM
Pfam:Fascin	230	332	1.5e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired migration of mature dendritic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	Het

Other mutations in Fscn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:Fscn1	APN	5	142960620	missense	possibly damaging	0.46
IGL02311:Fscn1	APN	5	142972010	missense	probably benign	0.08
R0037:Fscn1	UTSW	5	142970694	splice site	probably benign
R1163:Fscn1	UTSW	5	142960843	missense	probably damaging	1.00
R1860:Fscn1	UTSW	5	142970063	critical splice donor site	probably null
R4342:Fscn1	UTSW	5	142972021	missense	probably damaging	1.00
R5569:Fscn1	UTSW	5	142961044	missense	probably benign	0.13
R6248:Fscn1	UTSW	5	142961023	missense	possibly damaging	0.94
R6517:Fscn1	UTSW	5	142971986	missense	probably damaging	0.98
R6594:Fscn1	UTSW	5	142970028	missense	probably benign	0.02
R7000:Fscn1	UTSW	5	142960627	missense	probably damaging	1.00
R7108:Fscn1	UTSW	5	142960515	missense	probably damaging	1.00
R7165:Fscn1	UTSW	5	142972046	missense	probably benign	0.13
R7233:Fscn1	UTSW	5	142970274	missense	possibly damaging	0.83
R8030:Fscn1	UTSW	5	142961001	missense	possibly damaging	0.95
R8121:Fscn1	UTSW	5	142960861	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GATTCAGTTCGGGCTCATCAGC -3'
(R):5'- TAGATGTTAACCTGCGGGTGC -3'

Sequencing Primer
(F):5'- CTGCGGCAACAAGTACCTG -3'
(R):5'- GATGTGCACGCTCCACTTC -3'

Posted On

2018-11-28