Incidental Mutation 'R8030:Fscn1'
ID 617886
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 # R8030 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 142946110-142958944 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142946756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 185 (R185C)
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: R185C

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031565
Gene: ENSMUSG00000029581
AA Change: R185C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Fascin 16 126 1.1e-37 PFAM
Pfam:Fascin 139 241 8.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198017
SMART Domains Protein: ENSMUSP00000142509
Gene: ENSMUSG00000029581

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B09Rik A G 9: 14,672,970 (GRCm39) S98P probably benign Het
Abca9 C T 11: 110,011,534 (GRCm39) V1170I probably benign Het
Acacb A G 5: 114,371,228 (GRCm39) T1786A probably damaging Het
Acmsd T C 1: 127,676,898 (GRCm39) I141T possibly damaging Het
Akr1c12 A G 13: 4,322,244 (GRCm39) V266A possibly damaging Het
Arhgef18 A T 8: 3,489,600 (GRCm39) I311F probably damaging Het
Armc2 T A 10: 41,842,738 (GRCm39) N355I possibly damaging Het
Armh1 T A 4: 117,087,184 (GRCm39) K160N probably benign Het
Asic1 A T 15: 99,592,722 (GRCm39) T236S possibly damaging Het
Avl9 T A 6: 56,718,407 (GRCm39) D424E probably damaging Het
Cbfa2t2 A T 2: 154,357,816 (GRCm39) Q197L probably damaging Het
Ccdc136 T C 6: 29,417,141 (GRCm39) V654A probably benign Het
Cd177 C T 7: 24,455,594 (GRCm39) W309* probably null Het
Cplane1 G T 15: 8,259,787 (GRCm39) G2383V probably damaging Het
Cracr2a A G 6: 127,588,386 (GRCm39) K182E probably damaging Het
Dpys T C 15: 39,691,486 (GRCm39) T279A possibly damaging Het
Dsc1 A T 18: 20,222,628 (GRCm39) S615T probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Efcab14 A G 4: 115,623,599 (GRCm39) Q390R probably benign Het
Eif4ebp2 G A 10: 61,270,825 (GRCm39) A68V probably damaging Het
Fam81a A G 9: 70,010,191 (GRCm39) S149P probably benign Het
Ffar4 A G 19: 38,095,839 (GRCm39) I193V possibly damaging Het
Flvcr2 T A 12: 85,845,312 (GRCm39) V377D probably damaging Het
Gucy1b2 C T 14: 62,630,319 (GRCm39) S809N probably benign Het
H60b T A 10: 22,163,020 (GRCm39) N198K probably damaging Het
Helz2 A T 2: 180,879,689 (GRCm39) F643Y possibly damaging Het
Kash5 CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC 7: 44,837,608 (GRCm39) probably benign Het
Kif28 A G 1: 179,526,629 (GRCm39) V846A probably benign Het
Kirrel1 C A 3: 87,005,082 (GRCm39) G89W probably damaging Het
Krt42 G C 11: 100,155,865 (GRCm39) R294G possibly damaging Het
Mb21d2 A G 16: 28,646,555 (GRCm39) F473S probably damaging Het
Mcrip2 G A 17: 26,083,306 (GRCm39) Q111* probably null Het
Msh5 A G 17: 35,248,724 (GRCm39) Y741H possibly damaging Het
Myo7b A G 18: 32,131,135 (GRCm39) I544T probably damaging Het
Nav1 T C 1: 135,464,977 (GRCm39) E276G probably damaging Het
Nr2f1 T C 13: 78,343,565 (GRCm39) N233S probably benign Het
Nrip2 A T 6: 128,383,484 (GRCm39) D124V possibly damaging Het
Or5al1 C T 2: 85,990,586 (GRCm39) V43I probably benign Het
Or8k16 T A 2: 85,520,063 (GRCm39) C97S probably damaging Het
Panx2 G T 15: 88,952,282 (GRCm39) A250S probably damaging Het
Pdc T C 1: 150,208,964 (GRCm39) L149P probably damaging Het
Pex5l T A 3: 33,008,568 (GRCm39) I445F possibly damaging Het
Pigc T C 1: 161,798,116 (GRCm39) F33L probably damaging Het
Pkp2 A T 16: 16,064,774 (GRCm39) M433L probably benign Het
Rbfox2 A G 15: 76,969,776 (GRCm39) probably null Het
Rd3l A G 12: 111,946,584 (GRCm39) L64P possibly damaging Het
Rnf220 A G 4: 117,135,025 (GRCm39) Y409H probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Sel1l2 T C 2: 140,082,938 (GRCm39) T567A probably damaging Het
Slc22a8 T C 19: 8,587,371 (GRCm39) I477T probably damaging Het
Sltm C T 9: 70,493,261 (GRCm39) R753* probably null Het
Specc1l T A 10: 75,084,389 (GRCm39) M687K probably damaging Het
Spock3 T G 8: 63,805,232 (GRCm39) C338G probably damaging Het
Ssh2 C A 11: 77,345,332 (GRCm39) Q1106K probably benign Het
Sycp2l A G 13: 41,326,146 (GRCm39) M251V not run Het
Tdrd5 C A 1: 156,098,165 (GRCm39) E711* probably null Het
Thop1 T C 10: 80,911,450 (GRCm39) M112T possibly damaging Het
Tln1 C T 4: 43,535,737 (GRCm39) probably null Het
Ttc28 A C 5: 111,433,922 (GRCm39) I2319L possibly damaging Het
Ttll11 A G 2: 35,792,685 (GRCm39) I386T probably damaging Het
Txndc8 T C 4: 57,984,178 (GRCm39) E151G probably damaging Het
Ubr1 T C 2: 120,764,855 (GRCm39) E533G probably damaging Het
Zscan4f A G 7: 11,135,290 (GRCm39) H232R probably benign Het
Other mutations in Fscn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6248:Fscn1 UTSW 5 142,946,778 (GRCm39) missense possibly damaging 0.94
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
R8121:Fscn1 UTSW 5 142,946,616 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GAACGCATCCGCTAGTAGCTTG -3'
(R):5'- ATCTTTGCCCACCTTGGTGG -3'

Sequencing Primer
(F):5'- CGCATCCGCTAGTAGCTTGAAAAAG -3'
(R):5'- CACCTTGGTGGCCTTGC -3'
Posted On 2020-01-23