Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Fscn2'

346435

Institutional Source

Beutler Lab

Gene Symbol

Fscn2

Ensembl Gene

ENSMUSG00000025380

Gene Name

fascin actin-bundling protein 2

Synonyms

ahl8, C630046B20Rik

MMRRC Submission

041889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4624 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

120252360-120258994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120258169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 364 (I364F)

Ref Sequence

ENSEMBL: ENSMUSP00000026445 (fasta)

Gene Model

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

AlphaFold

Q32M02

Predicted Effect

probably benign
Transcript: ENSMUST00000026445
AA Change: I364F

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: I364F

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

Meta Mutation Damage Score

0.0644

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,873 (GRCm39)	T134A	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adgb	C	A	10: 10,278,748 (GRCm39)	V267L	probably benign	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,225,128 (GRCm39)	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,619,734 (GRCm39)	R766G	unknown	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Bcr	A	T	10: 74,989,752 (GRCm39)	E716V	probably damaging	Het
Borcs6	T	C	11: 68,951,423 (GRCm39)	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,255,351 (GRCm39)	K223R	probably null	Het
Cd2	T	G	3: 101,194,747 (GRCm39)	K114Q	probably benign	Het
Cdh19	T	C	1: 110,859,981 (GRCm39)	K167E	probably benign	Het
Cep131	T	C	11: 119,961,658 (GRCm39)	E558G	probably damaging	Het
Cmya5	A	T	13: 93,200,059 (GRCm39)	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,809 (GRCm39)	C663*	probably null	Het
Dnaaf4	A	G	9: 72,871,453 (GRCm39)	I238V	probably benign	Het
Dnah12	T	C	14: 26,456,913 (GRCm39)	I893T	possibly damaging	Het
Dop1a	G	A	9: 86,403,578 (GRCm39)	V129M	probably damaging	Het
Exoc6b	A	G	6: 84,831,791 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,533,545 (GRCm39)	V671A	probably benign	Het
Fcamr	T	G	1: 130,730,999 (GRCm39)	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,425,554 (GRCm39)	I144T	probably damaging	Het
Frem1	A	G	4: 82,907,343 (GRCm39)	L839P	probably damaging	Het
Gm10291	T	C	3: 78,824,581 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,362,676 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,710,823 (GRCm39)	M908V	probably damaging	Het
Helz2	T	C	2: 180,881,101 (GRCm39)	E436G	probably damaging	Het
Hfe	A	T	13: 23,890,061 (GRCm39)	C149*	probably null	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnh3	T	A	15: 99,124,253 (GRCm39)	D47E	probably damaging	Het
Kcp	A	G	6: 29,482,813 (GRCm39)	F1419L	possibly damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Klhl24	A	G	16: 19,938,873 (GRCm39)	D476G	probably damaging	Het
Krt79	T	A	15: 101,848,241 (GRCm39)	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,367,584 (GRCm39)	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,821,121 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,121,927 (GRCm39)	Y497H	probably damaging	Het
Mmut	G	A	17: 41,257,946 (GRCm39)	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,412,375 (GRCm39)	Q181R	probably damaging	Het
Notch1	T	C	2: 26,368,093 (GRCm39)	K631R	possibly damaging	Het
Or5an10	C	T	19: 12,276,347 (GRCm39)	V50I	probably benign	Het
Pcdh9	T	A	14: 94,123,845 (GRCm39)	N775I	probably damaging	Het
Phkb	T	A	8: 86,575,341 (GRCm39)		probably benign	Het
Pick1	T	A	15: 79,130,666 (GRCm39)	I250N	probably damaging	Het
Plec	T	C	15: 76,059,335 (GRCm39)	E3556G	probably damaging	Het
Prex2	C	T	1: 11,359,489 (GRCm39)	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,355,128 (GRCm39)	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,051,869 (GRCm39)		noncoding transcript	Het
Rab5b	G	T	10: 128,519,130 (GRCm39)	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rsrc1	T	C	3: 67,257,311 (GRCm39)	V241A	probably damaging	Het
Ryr2	A	T	13: 12,121,301 (GRCm39)	I11N	possibly damaging	Het
S100a11	T	C	3: 93,433,321 (GRCm39)	L55P	probably damaging	Het
Sec13	A	G	6: 113,706,652 (GRCm39)	S254P	probably benign	Het
Slc25a36	G	A	9: 96,961,178 (GRCm39)	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,184,411 (GRCm39)	E651G	probably benign	Het
Stox2	C	A	8: 47,646,851 (GRCm39)	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,132,691 (GRCm39)	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,936,881 (GRCm39)	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,812,895 (GRCm39)	S134G	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tnnt1	G	A	7: 4,515,267 (GRCm39)		probably benign	Het
Tpst2	A	G	5: 112,456,162 (GRCm39)	M234V	probably damaging	Het
Ttbk2	T	C	2: 120,603,804 (GRCm39)	D208G	probably benign	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,816,835 (GRCm39)	M425K	probably benign	Het
Uvssa	G	A	5: 33,547,300 (GRCm39)	E289K	possibly damaging	Het
Vmn2r11	T	A	5: 109,200,101 (GRCm39)	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,484,341 (GRCm39)	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,404,627 (GRCm39)	I259F	possibly damaging	Het
Wdfy3	C	T	5: 102,031,949 (GRCm39)	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,599,829 (GRCm39)	M111R	probably benign	Het

Other mutations in Fscn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Fscn2	APN	11	120,258,131 (GRCm39)	missense	probably damaging	0.99
IGL01767:Fscn2	APN	11	120,258,576 (GRCm39)	missense	possibly damaging	0.82
IGL02212:Fscn2	APN	11	120,252,881 (GRCm39)	missense	probably damaging	1.00
IGL02299:Fscn2	APN	11	120,253,025 (GRCm39)	missense	probably benign	0.09
IGL02494:Fscn2	APN	11	120,253,228 (GRCm39)	missense	probably benign	0.02
IGL02716:Fscn2	APN	11	120,257,550 (GRCm39)	missense	probably benign	0.00
IGL02882:Fscn2	APN	11	120,253,325 (GRCm39)	missense	probably benign
IGL02986:Fscn2	APN	11	120,258,176 (GRCm39)	missense	possibly damaging	0.74
bundle	UTSW	11	120,258,852 (GRCm39)	missense	probably damaging	1.00
R0513_Fscn2_038	UTSW	11	120,252,706 (GRCm39)	missense	probably damaging	1.00
R7170_Fscn2_209	UTSW	11	120,253,335 (GRCm39)	missense	probably damaging	0.98
ANU74:Fscn2	UTSW	11	120,253,162 (GRCm39)	missense	probably damaging	1.00
R0277:Fscn2	UTSW	11	120,258,837 (GRCm39)	missense	probably damaging	1.00
R0323:Fscn2	UTSW	11	120,258,837 (GRCm39)	missense	probably damaging	1.00
R0513:Fscn2	UTSW	11	120,252,706 (GRCm39)	missense	probably damaging	1.00
R1451:Fscn2	UTSW	11	120,252,848 (GRCm39)	missense	probably damaging	0.98
R1620:Fscn2	UTSW	11	120,257,511 (GRCm39)	missense	probably damaging	1.00
R1736:Fscn2	UTSW	11	120,258,852 (GRCm39)	missense	probably damaging	1.00
R2212:Fscn2	UTSW	11	120,252,417 (GRCm39)	start gained	probably benign
R2327:Fscn2	UTSW	11	120,257,527 (GRCm39)	missense	probably damaging	1.00
R2384:Fscn2	UTSW	11	120,257,559 (GRCm39)	missense	possibly damaging	0.48
R2397:Fscn2	UTSW	11	120,252,995 (GRCm39)	missense	probably damaging	1.00
R4634:Fscn2	UTSW	11	120,258,546 (GRCm39)	missense	possibly damaging	0.65
R4784:Fscn2	UTSW	11	120,258,813 (GRCm39)	missense	possibly damaging	0.82
R5062:Fscn2	UTSW	11	120,257,575 (GRCm39)	missense	probably damaging	1.00
R5084:Fscn2	UTSW	11	120,252,686 (GRCm39)	missense	probably damaging	0.96
R5514:Fscn2	UTSW	11	120,258,858 (GRCm39)	missense	probably damaging	1.00
R5780:Fscn2	UTSW	11	120,257,494 (GRCm39)	missense	probably benign	0.14
R6073:Fscn2	UTSW	11	120,252,613 (GRCm39)	nonsense	probably null
R6345:Fscn2	UTSW	11	120,252,853 (GRCm39)	missense	probably damaging	0.99
R7110:Fscn2	UTSW	11	120,257,580 (GRCm39)	missense	probably benign	0.19
R7170:Fscn2	UTSW	11	120,253,335 (GRCm39)	missense	probably damaging	0.98
R7171:Fscn2	UTSW	11	120,253,335 (GRCm39)	missense	probably damaging	0.98
R7538:Fscn2	UTSW	11	120,258,152 (GRCm39)	missense	possibly damaging	0.55
R7917:Fscn2	UTSW	11	120,258,082 (GRCm39)	missense	possibly damaging	0.79
R9468:Fscn2	UTSW	11	120,253,283 (GRCm39)	missense	probably damaging	1.00
R9541:Fscn2	UTSW	11	120,258,771 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTGGCAATGGGTACTTCTG -3'
(R):5'- CACAGAAGCAGGCATTCGTTAC -3'

Sequencing Primer
(F):5'- AGGGCAGGCTTCTGTTCCAC -3'
(R):5'- GAAGCAGGCATTCGTTACTAATATAG -3'

Posted On

2015-09-25