Mutagenetix > Incidental Mutation

Incidental Mutation 'R7108:Fscn1'

551313

Institutional Source

Beutler Lab

Gene Symbol

Fscn1

Ensembl Gene

ENSMUSG00000029581

Gene Name

fascin actin-bundling protein 1

Synonyms

Fan1, fascin-1

MMRRC Submission

045200-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R7108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142960343-142973185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142960515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 23 (Y23H)

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: Y23H

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

SMART Domains

Protein: ENSMUSP00000031565
Gene: ENSMUSG00000029581
AA Change: Y23H

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 damaging
Transcript: ENSMUST00000198017
AA Change: Y23H

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

SMART Domains

Protein: ENSMUSP00000142509
Gene: ENSMUSG00000029581
AA Change: Y23H

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,880,924 (GRCm38)	S411P	probably damaging	Het
4930503L19Rik	A	T	18: 70,468,476 (GRCm38)	Y112N	probably benign	Het
Abcd2	A	T	15: 91,191,274 (GRCm38)	V112E	probably benign	Het
Acadm	A	T	3: 153,925,800 (GRCm38)	Y353*	probably null	Het
Adra2c	A	G	5: 35,279,998 (GRCm38)	D38G	probably benign	Het
Ankrd10	C	T	8: 11,612,624 (GRCm38)	G370R	probably damaging	Het
Arfgef2	T	A	2: 166,873,608 (GRCm38)	N1324K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,102,501 (GRCm38)	T172A	probably damaging	Het
BC003331	T	C	1: 150,382,290 (GRCm38)	Y198C	probably benign	Het
Bloc1s1	T	A	10: 128,922,723 (GRCm38)	K22M	possibly damaging	Het
Brpf3	A	G	17: 28,817,125 (GRCm38)	T599A	probably benign	Het
Cacna1e	TTCCAGTCTC	TTC	1: 154,468,995 (GRCm38)		probably null	Het
Casc1	G	A	6: 145,185,865 (GRCm38)	Q351*	probably null	Het
Ccdc186	T	C	19: 56,798,760 (GRCm38)	D592G	probably damaging	Het
Cfap161	A	T	7: 83,793,310 (GRCm38)	D98E	possibly damaging	Het
Cfi	G	A	3: 129,875,016 (GRCm38)	V564M	probably damaging	Het
Cilp2	T	A	8: 69,881,129 (GRCm38)	Q1073L	probably damaging	Het
Cox6b1	A	G	7: 30,623,504 (GRCm38)	C40R	possibly damaging	Het
Cyp3a59	A	T	5: 146,096,333 (GRCm38)	M172L	probably benign	Het
Cyth1	T	C	11: 118,182,913 (GRCm38)	D198G	probably damaging	Het
Daam2	T	C	17: 49,460,674 (GRCm38)	D963G	probably damaging	Het
Ddi2	A	T	4: 141,705,937 (GRCm38)	D209E	probably benign	Het
Dnah12	G	A	14: 26,778,912 (GRCm38)		probably null	Het
Dpagt1	G	T	9: 44,327,021 (GRCm38)		probably benign	Het
Drc3	T	A	11: 60,370,554 (GRCm38)	F177Y	probably benign	Het
Dsg2	T	C	18: 20,601,863 (GRCm38)	V966A	probably damaging	Het
E430018J23Rik	A	G	7: 127,391,523 (GRCm38)	S431P	probably benign	Het
E4f1	A	G	17: 24,444,578 (GRCm38)	V633A	probably damaging	Het
Eif2ak2	T	A	17: 78,858,536 (GRCm38)	R411*	probably null	Het
Frem2	T	C	3: 53,653,513 (GRCm38)	E1191G	probably damaging	Het
Fry	T	A	5: 150,491,090 (GRCm38)	C467S		Het
Fry	T	C	5: 150,395,786 (GRCm38)	V972A	probably damaging	Het
Gm16506	T	A	14: 43,724,302 (GRCm38)	I163F		Het
Gm21103	T	C	14: 6,303,774 (GRCm38)	Y92C	probably damaging	Het
Golgb1	A	G	16: 36,913,721 (GRCm38)	H1151R	probably benign	Het
Gprc5c	T	C	11: 114,864,282 (GRCm38)	Y262H	probably damaging	Het
Hc	G	T	2: 35,039,694 (GRCm38)	N245K	probably benign	Het
Hps6	T	A	19: 46,005,490 (GRCm38)	L622Q	probably damaging	Het
Hsd17b1	T	C	11: 101,079,209 (GRCm38)	Y156H	probably damaging	Het
Ireb2	T	A	9: 54,906,641 (GRCm38)	F799L	probably damaging	Het
Irf1	A	G	11: 53,774,412 (GRCm38)	D205G	probably damaging	Het
Kif12	A	T	4: 63,171,205 (GRCm38)	F103L	probably benign	Het
Krt12	C	T	11: 99,416,052 (GRCm38)	V475M	unknown	Het
Lca5	T	A	9: 83,423,169 (GRCm38)	T195S	probably benign	Het
Lrrc17	T	C	5: 21,575,339 (GRCm38)	V437A	possibly damaging	Het
Malt1	G	T	18: 65,464,051 (GRCm38)	D468Y	probably damaging	Het
Man2b2	C	T	5: 36,815,485 (GRCm38)	A562T	probably benign	Het
Mrc1	C	T	2: 14,304,146 (GRCm38)	Q794*	probably null	Het
Muc16	T	A	9: 18,655,233 (GRCm38)	I1997L	unknown	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450 (GRCm38)		probably null	Het
Mycbp2	A	T	14: 103,122,603 (GRCm38)	F4518Y	probably damaging	Het
Myo5a	T	A	9: 75,129,992 (GRCm38)	I159N	probably damaging	Het
Nat1	T	C	8: 67,491,020 (GRCm38)	V19A	probably benign	Het
Ndst4	A	G	3: 125,561,471 (GRCm38)	T343A	probably damaging	Het
Nlrp9b	A	T	7: 20,045,930 (GRCm38)	L839F	probably damaging	Het
Nxnl1	A	G	8: 71,566,554 (GRCm38)	I9T	probably benign	Het
Olfr1351	C	A	10: 79,017,649 (GRCm38)	S109*	probably null	Het
Olfr331	T	A	11: 58,502,554 (GRCm38)	M7L	probably benign	Het
Olfr364-ps1	C	T	2: 37,146,260 (GRCm38)	T16I	probably benign	Het
Olfr548-ps1	A	T	7: 102,541,992 (GRCm38)	I19F	probably damaging	Het
Olfr693	G	A	7: 106,678,048 (GRCm38)	A146V	probably benign	Het
Pou5f2	T	C	13: 78,025,265 (GRCm38)	S109P	possibly damaging	Het
Prkcz	G	A	4: 155,286,793 (GRCm38)	Q321*	probably null	Het
Prr18	G	T	17: 8,341,531 (GRCm38)	R173L	probably damaging	Het
Ralgapb	A	T	2: 158,494,662 (GRCm38)	I1407F	probably damaging	Het
Ralgapb	T	C	2: 158,492,460 (GRCm38)	Y1364H	probably damaging	Het
Sacs	T	A	14: 61,211,009 (GRCm38)	Y3501*	probably null	Het
Sall3	G	A	18: 80,973,754 (GRCm38)	P320S	probably benign	Het
Scn8a	A	T	15: 101,039,778 (GRCm38)	H1676L	probably benign	Het
Shmt1	T	C	11: 60,798,644 (GRCm38)	D178G	probably damaging	Het
Slmap	T	C	14: 26,422,521 (GRCm38)	K737R	probably benign	Het
Ssh2	G	A	11: 77,454,794 (GRCm38)	V1202I	probably benign	Het
Stard7	A	G	2: 127,295,494 (GRCm38)	D288G	possibly damaging	Het
Tek	A	T	4: 94,853,487 (GRCm38)	D827V	probably damaging	Het
Tfap2e	A	G	4: 126,720,563 (GRCm38)	L276P	probably damaging	Het
Tns3	T	C	11: 8,437,251 (GRCm38)	N1312S	probably benign	Het
Tubd1	T	A	11: 86,557,805 (GRCm38)	S315T	probably damaging	Het
Ube2f	T	A	1: 91,265,219 (GRCm38)	C50*	probably null	Het
Vmn2r109	T	C	17: 20,564,744 (GRCm38)	I5V	probably benign	Het
Vmn2r39	T	C	7: 9,023,668 (GRCm38)	T445A	probably damaging	Het

Other mutations in Fscn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:Fscn1	APN	5	142,960,620 (GRCm38)	missense	possibly damaging	0.46
IGL02311:Fscn1	APN	5	142,972,010 (GRCm38)	missense	probably benign	0.08
R0037:Fscn1	UTSW	5	142,970,694 (GRCm38)	splice site	probably benign
R1163:Fscn1	UTSW	5	142,960,843 (GRCm38)	missense	probably damaging	1.00
R1860:Fscn1	UTSW	5	142,970,063 (GRCm38)	critical splice donor site	probably null
R4342:Fscn1	UTSW	5	142,972,021 (GRCm38)	missense	probably damaging	1.00
R5569:Fscn1	UTSW	5	142,961,044 (GRCm38)	missense	probably benign	0.13
R6248:Fscn1	UTSW	5	142,961,023 (GRCm38)	missense	possibly damaging	0.94
R6517:Fscn1	UTSW	5	142,971,986 (GRCm38)	missense	probably damaging	0.98
R6594:Fscn1	UTSW	5	142,970,028 (GRCm38)	missense	probably benign	0.02
R6964:Fscn1	UTSW	5	142,960,660 (GRCm38)	missense	probably damaging	1.00
R7000:Fscn1	UTSW	5	142,960,627 (GRCm38)	missense	probably damaging	1.00
R7165:Fscn1	UTSW	5	142,972,046 (GRCm38)	missense	probably benign	0.13
R7233:Fscn1	UTSW	5	142,970,274 (GRCm38)	missense	possibly damaging	0.83
R8030:Fscn1	UTSW	5	142,961,001 (GRCm38)	missense	possibly damaging	0.95
R8121:Fscn1	UTSW	5	142,960,861 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTGGCTTTGTGGAGAACTGC -3'
(R):5'- GGGTAACGCTGTAGATGTTAACC -3'

Sequencing Primer
(F):5'- AACTGCAGCGGGCTAAGC -3'
(R):5'- CGCTGTAGATGTTAACCTGCGG -3'

Posted On

2019-05-15