Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Fscn1'

100596

Institutional Source

Beutler Lab

Gene Symbol

Fscn1

Ensembl Gene

ENSMUSG00000029581

Gene Name

fascin actin-bundling protein 1

Synonyms

fascin-1, Fan1

MMRRC Submission

039236-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R1163 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

142946110-142958944 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142946598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 132 (W132L)

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: W132L

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

SMART Domains

Protein: ENSMUSP00000031565
Gene: ENSMUSG00000029581
AA Change: W132L

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

noncoding transcript
Transcript: ENSMUST00000137552

SMART Domains

Protein: ENSMUSP00000119590
Gene: ENSMUSG00000029581

Domain	Start	End	E-Value	Type
Pfam:Fascin	1	100	1.6e-33	PFAM
Pfam:Fascin	113	167	1.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139131

SMART Domains

Protein: ENSMUSP00000115116
Gene: ENSMUSG00000029581

Domain	Start	End	E-Value	Type
Pfam:Fascin	1	100	1.1e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150622

SMART Domains

Protein: ENSMUSP00000123347
Gene: ENSMUSG00000029581

Domain	Start	End	E-Value	Type
Pfam:Fascin	1	100	3.4e-34	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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 86,957,284 (GRCm39)	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 137,882,271 (GRCm39)	D18A	probably damaging	Het
Abca8a	T	C	11: 109,962,356 (GRCm39)	D499G	probably benign	Het
Adamts1	G	C	16: 85,599,525 (GRCm39)	A25G	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Akap3	A	G	6: 126,841,750 (GRCm39)	D123G	probably damaging	Het
Ankar	C	T	1: 72,727,864 (GRCm39)	V350I	possibly damaging	Het
Apob	A	G	12: 8,061,654 (GRCm39)	T3379A	probably damaging	Het
Ash1l	G	T	3: 88,942,570 (GRCm39)		probably null	Het
Atp2b1	T	C	10: 98,815,713 (GRCm39)	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,786,558 (GRCm39)	M210K	probably benign	Het
Bcl11a	A	G	11: 24,115,143 (GRCm39)	N829D	probably benign	Het
Btnl4	T	C	17: 34,689,049 (GRCm39)	E337G	possibly damaging	Het
Casr	A	T	16: 36,315,169 (GRCm39)	V967D	probably damaging	Het
Cd200	A	T	16: 45,212,715 (GRCm39)	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,658,383 (GRCm39)	N256D	probably benign	Het
Cep68	A	G	11: 20,190,539 (GRCm39)	S158P	probably damaging	Het
Chst10	A	T	1: 38,910,783 (GRCm39)	V123D	probably damaging	Het
Cobll1	T	C	2: 64,928,623 (GRCm39)	H938R	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dmkn	T	G	7: 30,464,476 (GRCm39)	C205G	probably damaging	Het
Dock8	A	G	19: 25,028,867 (GRCm39)	I24V	probably benign	Het
Dpp3	C	T	19: 4,964,951 (GRCm39)	W488*	probably null	Het
Dpp9	C	A	17: 56,506,426 (GRCm39)	A365S	possibly damaging	Het
Egfr	A	T	11: 16,833,546 (GRCm39)	T605S	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83g	T	C	11: 61,594,262 (GRCm39)	S599P	probably damaging	Het
Gbp2b	A	G	3: 142,304,857 (GRCm39)	T98A	probably damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,736,488 (GRCm39)	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,799,842 (GRCm39)	L829P	probably damaging	Het
Grm3	T	A	5: 9,620,738 (GRCm39)	I169L	probably benign	Het
Gsdma2	A	G	11: 98,541,684 (GRCm39)	D137G	probably damaging	Het
Hhip	T	C	8: 80,719,105 (GRCm39)	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,554,266 (GRCm39)	V163E	probably damaging	Het
Ifi203	T	C	1: 173,751,703 (GRCm39)	K373E	probably damaging	Het
Itsn2	A	G	12: 4,762,009 (GRCm39)	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,225,398 (GRCm39)	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029 (GRCm39)	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,619,379 (GRCm39)	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,146,379 (GRCm39)	F1822L	probably benign	Het
Krt1	C	A	15: 101,756,600 (GRCm39)	E308*	probably null	Het
Lrrc47	T	A	4: 154,096,274 (GRCm39)	M1K	probably null	Het
Mrgpra4	A	T	7: 47,631,224 (GRCm39)	W126R	probably damaging	Het
Nlrp4e	G	A	7: 23,020,397 (GRCm39)	V295I	probably benign	Het
Or1l4b	A	T	2: 37,037,039 (GRCm39)	T272S	probably damaging	Het
Or2f1	G	A	6: 42,721,057 (GRCm39)	V29I	probably benign	Het
Or4c10	G	T	2: 89,760,449 (GRCm39)	V99F	possibly damaging	Het
Or5ac19	A	G	16: 59,089,518 (GRCm39)	S171P	probably benign	Het
Or5ac24	A	T	16: 59,165,425 (GRCm39)	I213N	probably damaging	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Or6c66	A	G	10: 129,461,516 (GRCm39)	V138A	possibly damaging	Het
Or8h10	A	G	2: 86,809,020 (GRCm39)	L40P	probably damaging	Het
Or8k41	A	T	2: 86,313,582 (GRCm39)	F168Y	probably damaging	Het
Plec	G	T	15: 76,068,038 (GRCm39)	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,379,719 (GRCm39)	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697 (GRCm39)		probably benign	Het
Pramel22	A	G	4: 143,383,204 (GRCm39)	L5P	probably damaging	Het
Psg27	A	G	7: 18,299,234 (GRCm39)	L29P	probably damaging	Het
Psmd13	C	A	7: 140,477,367 (GRCm39)	T292N	probably damaging	Het
Rab1b	A	T	19: 5,154,684 (GRCm39)	Y88*	probably null	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,966,880 (GRCm39)	M257L	probably benign	Het
Rnd1	A	T	15: 98,574,435 (GRCm39)	F47L	probably damaging	Het
Rnf41	G	A	10: 128,274,076 (GRCm39)	V243I	probably benign	Het
Rnf43	C	G	11: 87,620,339 (GRCm39)	S226R	probably damaging	Het
Scn5a	A	T	9: 119,362,993 (GRCm39)	D542E	probably damaging	Het
Sema5b	A	T	16: 35,448,466 (GRCm39)	I81F	probably benign	Het
Serinc5	G	A	13: 92,819,285 (GRCm39)	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,205,551 (GRCm39)	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,614,033 (GRCm39)	S262P	probably damaging	Het
Smad4	A	T	18: 73,781,978 (GRCm39)	I428N	probably damaging	Het
Snip1	G	T	4: 124,966,613 (GRCm39)	G348W	probably damaging	Het
Spg11	A	G	2: 121,901,422 (GRCm39)	L1506P	probably damaging	Het
Stard9	G	A	2: 120,526,694 (GRCm39)	V984I	possibly damaging	Het
Svopl	A	T	6: 38,006,635 (GRCm39)	F121I	possibly damaging	Het
Tjp1	A	T	7: 64,972,802 (GRCm39)	V546E	probably damaging	Het
Tmem116	T	A	5: 121,631,819 (GRCm39)	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,601,714 (GRCm39)	T446M	probably benign	Het
Tubb1	A	T	2: 174,299,532 (GRCm39)	I405L	probably benign	Het
Uba5	A	T	9: 103,933,025 (GRCm39)	F155L	possibly damaging	Het
Ubd	C	T	17: 37,506,212 (GRCm39)	H33Y	probably damaging	Het
Ube3d	A	T	9: 86,322,648 (GRCm39)	D175E	probably benign	Het
Usp24	A	G	4: 106,278,157 (GRCm39)	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,507,937 (GRCm39)	H230L	probably benign	Het
Vmn1r88	A	G	7: 12,912,060 (GRCm39)	I139V	probably benign	Het
Vmn2r1	T	C	3: 63,994,046 (GRCm39)	F131L	probably benign	Het
Yipf3	T	C	17: 46,562,155 (GRCm39)		probably null	Het
Zdhhc19	A	G	16: 32,325,258 (GRCm39)	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611 (GRCm39)	T718I	probably damaging	Het

Other mutations in Fscn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:Fscn1	APN	5	142,946,375 (GRCm39)	missense	possibly damaging	0.46
IGL02311:Fscn1	APN	5	142,957,765 (GRCm39)	missense	probably benign	0.08
R0037:Fscn1	UTSW	5	142,956,449 (GRCm39)	splice site	probably benign
R1860:Fscn1	UTSW	5	142,955,818 (GRCm39)	critical splice donor site	probably null
R4342:Fscn1	UTSW	5	142,957,776 (GRCm39)	missense	probably damaging	1.00
R5569:Fscn1	UTSW	5	142,946,799 (GRCm39)	missense	probably benign	0.13
R6248:Fscn1	UTSW	5	142,946,778 (GRCm39)	missense	possibly damaging	0.94
R6517:Fscn1	UTSW	5	142,957,741 (GRCm39)	missense	probably damaging	0.98
R6594:Fscn1	UTSW	5	142,955,783 (GRCm39)	missense	probably benign	0.02
R6964:Fscn1	UTSW	5	142,946,415 (GRCm39)	missense	probably damaging	1.00
R7000:Fscn1	UTSW	5	142,946,382 (GRCm39)	missense	probably damaging	1.00
R7108:Fscn1	UTSW	5	142,946,270 (GRCm39)	missense	probably damaging	1.00
R7165:Fscn1	UTSW	5	142,957,801 (GRCm39)	missense	probably benign	0.13
R7233:Fscn1	UTSW	5	142,956,029 (GRCm39)	missense	possibly damaging	0.83
R8030:Fscn1	UTSW	5	142,946,756 (GRCm39)	missense	possibly damaging	0.95
R8121:Fscn1	UTSW	5	142,946,616 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2014-01-15