Incidental Mutation 'IGL02212:Fscn2'
ID285518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fscn2
Ensembl Gene ENSMUSG00000025380
Gene Namefascin actin-bundling protein 2
SynonymsC630046B20Rik, ahl8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02212
Quality Score
Status
Chromosome11
Chromosomal Location120361534-120368168 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120362055 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 116 (D116G)
Ref Sequence ENSEMBL: ENSMUSP00000026445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026445]
Predicted Effect probably damaging
Transcript: ENSMUST00000026445
AA Change: D116G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380
AA Change: D116G

DomainStartEndE-ValueType
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: ENSMUST00000130476
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,248,889 D1079V probably damaging Het
Adam18 T C 8: 24,637,179 H467R probably benign Het
Ambra1 T G 2: 91,917,361 D1056E probably damaging Het
Aoah A C 13: 21,002,901 N456T probably benign Het
Batf2 T A 19: 6,171,961 F267Y probably damaging Het
Bbs7 C T 3: 36,594,409 V397I probably benign Het
Bbs9 T A 9: 22,812,512 D824E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Brip1 A T 11: 86,139,015 V601E possibly damaging Het
Bub1 A G 2: 127,805,351 F773L probably damaging Het
Cadps A T 14: 12,522,345 D606E possibly damaging Het
Cenps T G 4: 149,128,846 D54A probably damaging Het
Cep170 T A 1: 176,735,936 N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,749 V1340A possibly damaging Het
D630003M21Rik A T 2: 158,210,171 S667T probably benign Het
Dgkb A G 12: 38,139,414 Y272C probably damaging Het
Dlx3 A G 11: 95,120,641 D107G probably benign Het
Drd3 A T 16: 43,762,312 N56I probably benign Het
Elavl4 T A 4: 110,206,412 I331F probably damaging Het
Fam167a T G 14: 63,462,629 S213A probably damaging Het
Fasn A T 11: 120,807,903 I2489N probably damaging Het
Fbxo43 T C 15: 36,151,811 K587E probably damaging Het
Galm T C 17: 80,150,117 V194A probably benign Het
Gm14851 C T 8: 21,095,260 probably benign Het
Gpr180 T A 14: 118,160,176 F361I probably damaging Het
Gpx2 A T 12: 76,792,908 C105* probably null Het
Gsdmc2 A T 15: 63,828,062 probably benign Het
Hes2 T G 4: 152,160,525 S150R probably damaging Het
Ighv1-56 C T 12: 115,242,797 probably benign Het
Inhbb A T 1: 119,417,983 V192D probably benign Het
Itgal A T 7: 127,300,980 M137L probably benign Het
Jak2 A G 19: 29,287,982 N470D probably benign Het
Jph1 T C 1: 17,091,757 E227G probably damaging Het
Kcnj6 A T 16: 94,832,487 I237N probably damaging Het
Kctd8 G T 5: 69,340,688 P205Q probably benign Het
Klhdc1 A T 12: 69,250,766 N37I probably damaging Het
Lrp2 T A 2: 69,451,264 H3921L probably benign Het
Lrp8os2 T C 4: 107,807,048 probably benign Het
Man2a2 A C 7: 80,362,308 D700E probably benign Het
Mast1 A T 8: 84,921,397 L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 D299G probably damaging Het
Mptx2 T A 1: 173,274,681 D147V possibly damaging Het
Mrpl9 T A 3: 94,443,817 probably null Het
Mup21 T G 4: 62,148,592 E137A probably damaging Het
Mutyh T A 4: 116,815,606 V52D probably damaging Het
Nalcn T A 14: 123,515,330 S340C probably damaging Het
Neb A G 2: 52,308,311 Y474H probably damaging Het
Nol8 A G 13: 49,662,150 E560G possibly damaging Het
Ntn4 A G 10: 93,644,849 D145G possibly damaging Het
Nup93 G A 8: 94,311,662 probably null Het
Olfr133 C A 17: 38,148,855 T89K probably benign Het
Olfr1384 A T 11: 49,513,910 I91F probably damaging Het
Olfr346 A G 2: 36,688,182 Y60C probably damaging Het
Olfr691 C T 7: 105,337,143 C191Y probably damaging Het
Pcdhb8 T A 18: 37,356,412 V40E possibly damaging Het
Peg3 C T 7: 6,711,416 R269H probably benign Het
Piwil1 T A 5: 128,750,270 F648I possibly damaging Het
Psd4 A T 2: 24,405,314 K827* probably null Het
Retsat T A 6: 72,601,710 L135* probably null Het
Rtp3 A G 9: 110,987,321 probably benign Het
Samd14 A G 11: 95,023,350 Y305C probably damaging Het
Satb1 T A 17: 51,775,291 Q445L possibly damaging Het
Shbg A G 11: 69,617,209 L110P probably damaging Het
Slc17a6 T A 7: 51,667,470 I413N possibly damaging Het
Slu7 A T 11: 43,440,642 Q201L probably benign Het
Spg11 T C 2: 122,108,157 T439A probably benign Het
Sstr5 A T 17: 25,491,673 L194Q possibly damaging Het
Tjp2 A T 19: 24,138,786 L13Q probably damaging Het
Tnk2 G A 16: 32,680,142 V758I probably damaging Het
Ttll8 C A 15: 88,917,247 V413L probably benign Het
Wiz T C 17: 32,368,135 D67G probably damaging Het
Other mutations in Fscn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Fscn2 APN 11 120367305 missense probably damaging 0.99
IGL01767:Fscn2 APN 11 120367750 missense possibly damaging 0.82
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
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
Posted On2015-04-16