Incidental Mutation 'R7108:Fscn1'
ID 551313
Institutional Source Beutler Lab
Gene Symbol Fscn1
Ensembl Gene ENSMUSG00000029581
Gene Name fascin actin-bundling protein 1
Synonyms Fan1, fascin-1
MMRRC Submission 045200-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R7108 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 142960343-142973185 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142960515 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 23 (Y23H)
Ref Sequence ENSEMBL: ENSMUSP00000031565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031565] [ENSMUST00000198017]
AlphaFold Q61553
Predicted Effect probably damaging
Transcript: ENSMUST00000031565
AA Change: Y23H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031565
Gene: ENSMUSG00000029581
AA Change: Y23H

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

Pfam:Fascin 16 126 1.1e-37 PFAM
Pfam:Fascin 139 241 8.3e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198017
AA Change: Y23H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142509
Gene: ENSMUSG00000029581
AA Change: Y23H

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,880,924 (GRCm38) S411P probably damaging Het
4930503L19Rik A T 18: 70,468,476 (GRCm38) Y112N probably benign Het
Abcd2 A T 15: 91,191,274 (GRCm38) V112E probably benign Het
Acadm A T 3: 153,925,800 (GRCm38) Y353* probably null Het
Adra2c A G 5: 35,279,998 (GRCm38) D38G probably benign Het
Ankrd10 C T 8: 11,612,624 (GRCm38) G370R probably damaging Het
Arfgef2 T A 2: 166,873,608 (GRCm38) N1324K possibly damaging Het
Atp6v1b2 A G 8: 69,102,501 (GRCm38) T172A probably damaging Het
BC003331 T C 1: 150,382,290 (GRCm38) Y198C probably benign Het
Bloc1s1 T A 10: 128,922,723 (GRCm38) K22M possibly damaging Het
Brpf3 A G 17: 28,817,125 (GRCm38) T599A probably benign Het
Cacna1e TTCCAGTCTC TTC 1: 154,468,995 (GRCm38) probably null Het
Casc1 G A 6: 145,185,865 (GRCm38) Q351* probably null Het
Ccdc186 T C 19: 56,798,760 (GRCm38) D592G probably damaging Het
Cfap161 A T 7: 83,793,310 (GRCm38) D98E possibly damaging Het
Cfi G A 3: 129,875,016 (GRCm38) V564M probably damaging Het
Cilp2 T A 8: 69,881,129 (GRCm38) Q1073L probably damaging Het
Cox6b1 A G 7: 30,623,504 (GRCm38) C40R possibly damaging Het
Cyp3a59 A T 5: 146,096,333 (GRCm38) M172L probably benign Het
Cyth1 T C 11: 118,182,913 (GRCm38) D198G probably damaging Het
Daam2 T C 17: 49,460,674 (GRCm38) D963G probably damaging Het
Ddi2 A T 4: 141,705,937 (GRCm38) D209E probably benign Het
Dnah12 G A 14: 26,778,912 (GRCm38) probably null Het
Dpagt1 G T 9: 44,327,021 (GRCm38) probably benign Het
Drc3 T A 11: 60,370,554 (GRCm38) F177Y probably benign Het
Dsg2 T C 18: 20,601,863 (GRCm38) V966A probably damaging Het
E430018J23Rik A G 7: 127,391,523 (GRCm38) S431P probably benign Het
E4f1 A G 17: 24,444,578 (GRCm38) V633A probably damaging Het
Eif2ak2 T A 17: 78,858,536 (GRCm38) R411* probably null Het
Frem2 T C 3: 53,653,513 (GRCm38) E1191G probably damaging Het
Fry T A 5: 150,491,090 (GRCm38) C467S Het
Fry T C 5: 150,395,786 (GRCm38) V972A probably damaging Het
Gm16506 T A 14: 43,724,302 (GRCm38) I163F Het
Gm21103 T C 14: 6,303,774 (GRCm38) Y92C probably damaging Het
Golgb1 A G 16: 36,913,721 (GRCm38) H1151R probably benign Het
Gprc5c T C 11: 114,864,282 (GRCm38) Y262H probably damaging Het
Hc G T 2: 35,039,694 (GRCm38) N245K probably benign Het
Hps6 T A 19: 46,005,490 (GRCm38) L622Q probably damaging Het
Hsd17b1 T C 11: 101,079,209 (GRCm38) Y156H probably damaging Het
Ireb2 T A 9: 54,906,641 (GRCm38) F799L probably damaging Het
Irf1 A G 11: 53,774,412 (GRCm38) D205G probably damaging Het
Kif12 A T 4: 63,171,205 (GRCm38) F103L probably benign Het
Krt12 C T 11: 99,416,052 (GRCm38) V475M unknown Het
Lca5 T A 9: 83,423,169 (GRCm38) T195S probably benign Het
Lrrc17 T C 5: 21,575,339 (GRCm38) V437A possibly damaging Het
Malt1 G T 18: 65,464,051 (GRCm38) D468Y probably damaging Het
Man2b2 C T 5: 36,815,485 (GRCm38) A562T probably benign Het
Mrc1 C T 2: 14,304,146 (GRCm38) Q794* probably null Het
Muc16 T A 9: 18,655,233 (GRCm38) I1997L unknown Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,634,450 (GRCm38) probably null Het
Mycbp2 A T 14: 103,122,603 (GRCm38) F4518Y probably damaging Het
Myo5a T A 9: 75,129,992 (GRCm38) I159N probably damaging Het
Nat1 T C 8: 67,491,020 (GRCm38) V19A probably benign Het
Ndst4 A G 3: 125,561,471 (GRCm38) T343A probably damaging Het
Nlrp9b A T 7: 20,045,930 (GRCm38) L839F probably damaging Het
Nxnl1 A G 8: 71,566,554 (GRCm38) I9T probably benign Het
Olfr1351 C A 10: 79,017,649 (GRCm38) S109* probably null Het
Olfr331 T A 11: 58,502,554 (GRCm38) M7L probably benign Het
Olfr364-ps1 C T 2: 37,146,260 (GRCm38) T16I probably benign Het
Olfr548-ps1 A T 7: 102,541,992 (GRCm38) I19F probably damaging Het
Olfr693 G A 7: 106,678,048 (GRCm38) A146V probably benign Het
Pou5f2 T C 13: 78,025,265 (GRCm38) S109P possibly damaging Het
Prkcz G A 4: 155,286,793 (GRCm38) Q321* probably null Het
Prr18 G T 17: 8,341,531 (GRCm38) R173L probably damaging Het
Ralgapb A T 2: 158,494,662 (GRCm38) I1407F probably damaging Het
Ralgapb T C 2: 158,492,460 (GRCm38) Y1364H probably damaging Het
Sacs T A 14: 61,211,009 (GRCm38) Y3501* probably null Het
Sall3 G A 18: 80,973,754 (GRCm38) P320S probably benign Het
Scn8a A T 15: 101,039,778 (GRCm38) H1676L probably benign Het
Shmt1 T C 11: 60,798,644 (GRCm38) D178G probably damaging Het
Slmap T C 14: 26,422,521 (GRCm38) K737R probably benign Het
Ssh2 G A 11: 77,454,794 (GRCm38) V1202I probably benign Het
Stard7 A G 2: 127,295,494 (GRCm38) D288G possibly damaging Het
Tek A T 4: 94,853,487 (GRCm38) D827V probably damaging Het
Tfap2e A G 4: 126,720,563 (GRCm38) L276P probably damaging Het
Tns3 T C 11: 8,437,251 (GRCm38) N1312S probably benign Het
Tubd1 T A 11: 86,557,805 (GRCm38) S315T probably damaging Het
Ube2f T A 1: 91,265,219 (GRCm38) C50* probably null Het
Vmn2r109 T C 17: 20,564,744 (GRCm38) I5V probably benign Het
Vmn2r39 T C 7: 9,023,668 (GRCm38) T445A probably damaging Het
Other mutations in Fscn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02189:Fscn1 APN 5 142,960,620 (GRCm38) missense possibly damaging 0.46
IGL02311:Fscn1 APN 5 142,972,010 (GRCm38) missense probably benign 0.08
R0037:Fscn1 UTSW 5 142,970,694 (GRCm38) splice site probably benign
R1163:Fscn1 UTSW 5 142,960,843 (GRCm38) missense probably damaging 1.00
R1860:Fscn1 UTSW 5 142,970,063 (GRCm38) critical splice donor site probably null
R4342:Fscn1 UTSW 5 142,972,021 (GRCm38) missense probably damaging 1.00
R5569:Fscn1 UTSW 5 142,961,044 (GRCm38) missense probably benign 0.13
R6248:Fscn1 UTSW 5 142,961,023 (GRCm38) missense possibly damaging 0.94
R6517:Fscn1 UTSW 5 142,971,986 (GRCm38) missense probably damaging 0.98
R6594:Fscn1 UTSW 5 142,970,028 (GRCm38) missense probably benign 0.02
R6964:Fscn1 UTSW 5 142,960,660 (GRCm38) missense probably damaging 1.00
R7000:Fscn1 UTSW 5 142,960,627 (GRCm38) missense probably damaging 1.00
R7165:Fscn1 UTSW 5 142,972,046 (GRCm38) missense probably benign 0.13
R7233:Fscn1 UTSW 5 142,970,274 (GRCm38) missense possibly damaging 0.83
R8030:Fscn1 UTSW 5 142,961,001 (GRCm38) missense possibly damaging 0.95
R8121:Fscn1 UTSW 5 142,960,861 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-15