Mutagenetix > Incidental Mutation

Incidental Mutation 'R6248:Fscn1'

505591

Institutional Source

Beutler Lab

Gene Symbol

Fscn1

Ensembl Gene

ENSMUSG00000029581

Gene Name

fascin actin-bundling protein 1

Synonyms

fascin-1, Fan1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R6248 (G1)

Quality Score

160.009

Status

Validated

Chromosome

Chromosomal Location

142946110-142958944 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142946778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 192 (D192V)

Ref Sequence

ENSEMBL: ENSMUSP00000031565 (fasta)

Gene Model

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

AlphaFold

Q61553

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031565
AA Change: D192V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031565
Gene: ENSMUSG00000029581
AA Change: D192V

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,978 (GRCm39)	S83P	possibly damaging	Het
Actr10	A	T	12: 70,999,733 (GRCm39)	E176D	probably benign	Het
Adcy3	G	A	12: 4,258,662 (GRCm39)		probably null	Het
AI429214	T	A	8: 37,461,278 (GRCm39)	I142N	probably damaging	Het
Alox12	A	G	11: 70,143,936 (GRCm39)	L148S	probably damaging	Het
Ank3	A	G	10: 69,809,680 (GRCm39)	I1147V	probably benign	Het
Apoc2	C	T	7: 19,407,493 (GRCm39)	V12I	probably benign	Het
Arap3	T	C	18: 38,124,407 (GRCm39)	S311G	probably benign	Het
Arih2	G	T	9: 108,488,841 (GRCm39)	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,101,843 (GRCm39)	D312E	probably benign	Het
Cdh12	T	G	15: 21,237,800 (GRCm39)	W12G	possibly damaging	Het
Cisd2	A	T	3: 135,114,616 (GRCm39)	N118K	probably damaging	Het
Cntnap5b	A	G	1: 99,999,827 (GRCm39)	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,161,966 (GRCm39)		probably null	Het
Cyp4f37	A	G	17: 32,848,864 (GRCm39)	D244G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dido1	T	A	2: 180,302,048 (GRCm39)	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,871,283 (GRCm39)		probably null	Het
Dnal4	T	A	15: 79,646,714 (GRCm39)	M56L	probably damaging	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Eps8l2	A	G	7: 140,922,015 (GRCm39)	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479 (GRCm39)	L112*	probably null	Het
Etl4	C	T	2: 20,813,900 (GRCm39)	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,330,400 (GRCm39)	F510L	probably benign	Het
Fam114a2	G	T	11: 57,383,942 (GRCm39)	T324K	possibly damaging	Het
Fer1l4	G	A	2: 155,888,091 (GRCm39)	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,436,173 (GRCm39)	S2R	probably benign	Het
Gm3486	T	A	14: 41,206,472 (GRCm39)	*200C	probably null	Het
Gusb	A	T	5: 130,029,366 (GRCm39)	H138Q	probably benign	Het
Hdac9	A	T	12: 34,578,293 (GRCm39)	M4K	possibly damaging	Het
Hhipl1	G	T	12: 108,284,964 (GRCm39)	R439L	probably benign	Het
Hoxd9	A	G	2: 74,528,980 (GRCm39)	E194G	probably benign	Het
Itgb1	A	G	8: 129,448,902 (GRCm39)	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,437,216 (GRCm39)	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,123,983 (GRCm39)	S727L	possibly damaging	Het
Klhdc4	A	G	8: 122,540,507 (GRCm39)	F92L	probably damaging	Het
Klrb1a	A	G	6: 128,596,137 (GRCm39)	V62A	probably damaging	Het
Krit1	A	G	5: 3,863,032 (GRCm39)		probably null	Het
Krt40	A	G	11: 99,432,566 (GRCm39)	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,208,738 (GRCm39)	T464A	probably benign	Het
Lrrc52	T	G	1: 167,293,964 (GRCm39)	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,408,692 (GRCm39)	V35F	probably damaging	Het
Mccc1	A	G	3: 36,044,313 (GRCm39)	V171A	probably damaging	Het
Metap1d	A	T	2: 71,346,104 (GRCm39)	R222*	probably null	Het
Mrgpre	G	A	7: 143,334,603 (GRCm39)	A300V	probably benign	Het
Mterf1b	C	A	5: 4,246,606 (GRCm39)	N82K	probably benign	Het
Myh9	C	T	15: 77,669,422 (GRCm39)	W533*	probably null	Het
Myom2	A	G	8: 15,148,472 (GRCm39)		probably null	Het
Ncor1	G	A	11: 62,257,808 (GRCm39)	P329S	probably damaging	Het
Nr2f1	T	C	13: 78,344,611 (GRCm39)		probably benign	Het
Or10x1	T	G	1: 174,197,236 (GRCm39)	V251G	probably benign	Het
Or11a4	T	A	17: 37,536,451 (GRCm39)	L145*	probably null	Het
Or2a57	C	T	6: 43,212,838 (GRCm39)	Q99*	probably null	Het
Or2w6	A	T	13: 21,843,244 (GRCm39)	I83N	possibly damaging	Het
Or52p2	T	C	7: 102,237,237 (GRCm39)	T238A	probably benign	Het
Or6c210	A	G	10: 129,496,532 (GRCm39)	I286V	probably benign	Het
Or6z1	A	T	7: 6,504,675 (GRCm39)	C183*	probably null	Het
Pcdha11	T	C	18: 37,138,950 (GRCm39)	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,639,285 (GRCm39)	F604I	probably damaging	Het
Pde1a	T	C	2: 79,708,545 (GRCm39)	H291R	probably damaging	Het
Pfkm	G	A	15: 98,024,260 (GRCm39)	V423M	probably damaging	Het
Pira1	C	A	7: 3,739,337 (GRCm39)	E510D	probably benign	Het
Pkd2l1	G	T	19: 44,146,108 (GRCm39)	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,392,955 (GRCm39)	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,748,338 (GRCm39)	T282I	probably damaging	Het
Prpf39	A	C	12: 65,089,528 (GRCm39)	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,587,537 (GRCm39)	F743L	probably damaging	Het
Raver2	A	G	4: 100,991,320 (GRCm39)		probably null	Het
Ric8b	T	C	10: 84,783,709 (GRCm39)	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,495,957 (GRCm39)	F13L	probably benign	Het
Scd2	T	C	19: 44,291,448 (GRCm39)	F296L	probably damaging	Het
Scg2	G	T	1: 79,414,023 (GRCm39)	D233E	probably benign	Het
Sema5b	C	A	16: 35,448,377 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,636,286 (GRCm39)	V644E	unknown	Het
Slc44a5	G	T	3: 153,969,678 (GRCm39)	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,234 (GRCm39)	R107*	probably null	Het
Sun5	G	T	2: 153,702,589 (GRCm39)	T189K	probably damaging	Het
Tap1	A	T	17: 34,412,151 (GRCm39)	E452V	probably damaging	Het
Tcam1	A	G	11: 106,173,652 (GRCm39)	N32S	probably benign	Het
Tep1	T	C	14: 51,067,715 (GRCm39)	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Tmem175	T	C	5: 108,793,821 (GRCm39)	V317A	probably damaging	Het
Tsga13	A	G	6: 30,874,139 (GRCm39)	V231A	probably benign	Het
Tspan12	A	G	6: 21,799,970 (GRCm39)	S126P	probably damaging	Het
Uvrag	G	T	7: 98,637,398 (GRCm39)	D143E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,036 (GRCm39)	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,852,287 (GRCm39)	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,049,284 (GRCm39)	T822A	probably benign	Het
Vmn2r67	T	C	7: 84,799,768 (GRCm39)	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,667,386 (GRCm39)	W644R	probably damaging	Het
Zeb1	A	G	18: 5,766,962 (GRCm39)	D491G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp831	A	T	2: 174,486,308 (GRCm39)	T328S	possibly 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
R1163:Fscn1	UTSW	5	142,946,598 (GRCm39)	missense	probably damaging	1.00
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
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

PCR Primer
(F):5'- AGAAGTGGAGCGTGCACATC -3'
(R):5'- CTTTTGTGCACTGGGTCAGGAC -3'

Sequencing Primer
(F):5'- AGCGTGCACATCGCCATG -3'
(R):5'- TCTGTTCCAGGGCGAAGAG -3'

Posted On

2018-02-28