Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Fscn2'

239468

Institutional Source

Beutler Lab

Gene Symbol

Fscn2

Ensembl Gene

ENSMUSG00000025380

Gene Name

fascin actin-bundling protein 2

Synonyms

C630046B20Rik, ahl8

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R2212 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

120361534-120368168 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 120361591 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026445]

Predicted Effect

probably benign
Transcript: ENSMUST00000026445

SMART Domains

Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380

Domain	Start	End	E-Value	Type
Pfam:Fascin	20	133	4.9e-34	PFAM
Pfam:Fascin	141	254	1.2e-26	PFAM
Pfam:Fascin	266	376	8.9e-35	PFAM
Pfam:Fascin	389	492	4.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152556

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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 protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display retinal generation with structural abnormalities of the outer segment and depressed rod and cone ERGs that worsen with age. [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
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Fscn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Fscn2	APN	11	120367305	missense	probably damaging	0.99
IGL01767:Fscn2	APN	11	120367750	missense	possibly damaging	0.82
IGL02212:Fscn2	APN	11	120362055	missense	probably damaging	1.00
IGL02299:Fscn2	APN	11	120362199	missense	probably benign	0.09
IGL02494:Fscn2	APN	11	120362402	missense	probably benign	0.02
IGL02716:Fscn2	APN	11	120366724	missense	probably benign	0.00
IGL02882:Fscn2	APN	11	120362499	missense	probably benign
IGL02986:Fscn2	APN	11	120367350	missense	possibly damaging	0.74
bundle	UTSW	11	120368026	missense	probably damaging	1.00
ANU74:Fscn2	UTSW	11	120362336	missense	probably damaging	1.00
R0277:Fscn2	UTSW	11	120368011	missense	probably damaging	1.00
R0323:Fscn2	UTSW	11	120368011	missense	probably damaging	1.00
R0513:Fscn2	UTSW	11	120361880	missense	probably damaging	1.00
R1451:Fscn2	UTSW	11	120362022	missense	probably damaging	0.98
R1620:Fscn2	UTSW	11	120366685	missense	probably damaging	1.00
R1736:Fscn2	UTSW	11	120368026	missense	probably damaging	1.00
R2327:Fscn2	UTSW	11	120366701	missense	probably damaging	1.00
R2384:Fscn2	UTSW	11	120366733	missense	possibly damaging	0.48
R2397:Fscn2	UTSW	11	120362169	missense	probably damaging	1.00
R4624:Fscn2	UTSW	11	120367343	missense	probably benign	0.21
R4634:Fscn2	UTSW	11	120367720	missense	possibly damaging	0.65
R4784:Fscn2	UTSW	11	120367987	missense	possibly damaging	0.82
R5062:Fscn2	UTSW	11	120366749	missense	probably damaging	1.00
R5084:Fscn2	UTSW	11	120361860	missense	probably damaging	0.96
R5514:Fscn2	UTSW	11	120368032	missense	probably damaging	1.00
R5780:Fscn2	UTSW	11	120366668	missense	probably benign	0.14
R6073:Fscn2	UTSW	11	120361787	nonsense	probably null
R6345:Fscn2	UTSW	11	120362027	missense	probably damaging	0.99
R7110:Fscn2	UTSW	11	120366754	missense	probably benign	0.19
R7170:Fscn2	UTSW	11	120362509	missense	probably damaging	0.98
R7171:Fscn2	UTSW	11	120362509	missense	probably damaging	0.98
R7538:Fscn2	UTSW	11	120367326	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TCCTGCTGGACATTGACTCTG -3'
(R):5'- CGTTAACAAGGCCAAACTGG -3'

Sequencing Primer
(F):5'- GACTCTGGACTTGGTGCATCC -3'
(R):5'- AACTGGATCTTCAGCACCTGGTG -3'

Posted On

2014-10-15