Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02716:Fscn2'

304768

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fscn2

Ensembl Gene

ENSMUSG00000025380

Gene Name

fascin actin-bundling protein 2

Synonyms

C630046B20Rik, ahl8

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

IGL02716

Quality Score

Status

Chromosome

Chromosomal Location

120361534-120368168 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120366724 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 304 (T304S)

Ref Sequence

ENSEMBL: ENSMUSP00000026445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026445] [ENSMUST00000026448]

Predicted Effect

probably benign
Transcript: ENSMUST00000026445
AA Change: T304S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: T304S

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

probably benign
Transcript: ENSMUST00000026448

SMART Domains

Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384

Domain	Start	End	E-Value	Type
Pfam:FANCAA	447	879	1.4e-196	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152556

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	C	11: 54,327,276	S212P	probably benign	Het
Ago2	C	T	15: 73,111,727	R711Q	possibly damaging	Het
Akp3	A	C	1: 87,125,479	D91A	probably damaging	Het
Arhgap12	T	A	18: 6,111,857	Q169L	possibly damaging	Het
Aspm	A	G	1: 139,479,687	Y2104C	probably damaging	Het
Baz2b	G	A	2: 59,962,524	S420L	possibly damaging	Het
Cenpo	T	C	12: 4,215,390	N210S	possibly damaging	Het
Chadl	T	C	15: 81,695,915	N40D	probably damaging	Het
Crebbp	T	C	16: 4,114,878	E586G	probably benign	Het
Cts7	T	A	13: 61,356,608	Q47L	probably benign	Het
Cyp2c40	C	A	19: 39,807,536	D133Y	possibly damaging	Het
Dnah3	A	T	7: 119,937,023	M3679K	probably damaging	Het
Dym	T	C	18: 75,286,683	Y642H	probably damaging	Het
Efr3b	T	C	12: 3,984,627	D65G	probably damaging	Het
Elmo1	T	A	13: 20,449,502	F445I	probably damaging	Het
Epdr1	C	T	13: 19,594,570	V119M	probably benign	Het
Epha4	G	T	1: 77,380,965	R799S	probably damaging	Het
Esyt3	A	T	9: 99,317,224	V778E	probably damaging	Het
F10	A	T	8: 13,048,177	K127*	probably null	Het
Fcgbp	G	A	7: 28,101,434	E1302K	probably damaging	Het
Fer1l4	A	G	2: 156,029,715	F1382L	probably damaging	Het
Fhad1	T	C	4: 141,918,331	I318V	possibly damaging	Het
Gab1	A	T	8: 80,769,694	L659Q	probably damaging	Het
Gm4845	A	C	1: 141,256,838		noncoding transcript	Het
Gm572	A	G	4: 148,654,870	M52V	probably benign	Het
Hmgcr	T	C	13: 96,660,012		probably null	Het
Kcnk5	T	C	14: 20,181,428	T9A	probably damaging	Het
Krt87	A	C	15: 101,434,604	F243V	possibly damaging	Het
Mast1	G	T	8: 84,935,723	P52Q	probably damaging	Het
Mcf2l	A	T	8: 12,997,277	Q211L	probably benign	Het
Mtus2	C	A	5: 148,236,310	P968T	probably benign	Het
Mylk2	T	C	2: 152,922,153	*614R	probably null	Het
Myo15b	A	T	11: 115,883,709	E2049V	probably benign	Het
Myo6	A	T	9: 80,269,694	H581L	probably damaging	Het
Numb	A	T	12: 83,801,208	S241T	possibly damaging	Het
Olfr1265	G	T	2: 90,037,794	V292L	probably benign	Het
Olfr1283	A	T	2: 111,368,781	I50F	probably benign	Het
Olfr338	A	G	2: 36,377,343	D189G	possibly damaging	Het
Phldb2	A	G	16: 45,801,590	S676P	probably damaging	Het
Rttn	G	A	18: 89,048,417	E1196K	possibly damaging	Het
Skiv2l2	T	G	13: 112,883,146	D810A	probably benign	Het
Slc13a3	G	A	2: 165,406,715	P548S	unknown	Het
Slc2a7	A	G	4: 150,160,010		probably benign	Het
Slc37a1	T	C	17: 31,328,161	S261P	possibly damaging	Het
Spryd3	T	A	15: 102,133,461	Y42F	possibly damaging	Het
Srrm3	A	G	5: 135,854,433		probably null	Het
Stambp	G	A	6: 83,556,390	T297I	probably damaging	Het
Sypl	T	A	12: 32,967,669	Y129N	probably damaging	Het
Syt14	G	A	1: 192,980,535	P368S	possibly damaging	Het
Tas2r122	T	C	6: 132,711,264	D222G	probably damaging	Het
Tead2	C	A	7: 45,232,296	Y79*	probably null	Het
Tmem251	A	G	12: 102,744,829	T104A	probably benign	Het
Uso1	T	C	5: 92,173,935	V229A	probably damaging	Het
Vmn1r238	A	G	18: 3,123,124	S97P	probably damaging	Het
Vmn2r82	T	A	10: 79,377,844	V88D	probably benign	Het
Vps29	A	G	5: 122,362,066	T85A	probably benign	Het
Wdr90	T	A	17: 25,857,220	S500C	probably damaging	Het
Zfp958	G	A	8: 4,625,967		probably null	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
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
R2212:Fscn2	UTSW	11	120361591	start gained	probably benign
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

Posted On

2015-04-16