Incidental Mutation 'R2122:Fscn3'
ID229570
Institutional Source Beutler Lab
Gene Symbol Fscn3
Ensembl Gene ENSMUSG00000029707
Gene Namefascin actin-bundling protein 3
SynonymsOTTMUSP00000023543; fascin (testis); fascin 3
MMRRC Submission 040126-MU
Accession Numbers

Genbank: NM_019569; MGI:1890386

Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #R2122 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location28427789-28438622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28430389 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 186 (D186G)
Ref Sequence ENSEMBL: ENSMUSP00000031719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020717] [ENSMUST00000031719] [ENSMUST00000064377] [ENSMUST00000169841]
Predicted Effect probably benign
Transcript: ENSMUST00000020717
SMART Domains Protein: ENSMUSP00000020717
Gene: ENSMUSG00000020440

DomainStartEndE-ValueType
ARF 1 180 5.83e-121 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031719
AA Change: D186G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031719
Gene: ENSMUSG00000029707
AA Change: D186G

DomainStartEndE-ValueType
Pfam:Fascin 24 138 1e-29 PFAM
SCOP:d1dfca2 146 260 2e-48 SMART
Pfam:Fascin 271 381 2.1e-26 PFAM
SCOP:d1dfca4 386 498 3e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064377
SMART Domains Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708

DomainStartEndE-ValueType
coiled coil region 13 61 N/A INTRINSIC
low complexity region 93 109 N/A INTRINSIC
low complexity region 130 153 N/A INTRINSIC
coiled coil region 156 315 N/A INTRINSIC
low complexity region 408 418 N/A INTRINSIC
low complexity region 432 443 N/A INTRINSIC
low complexity region 479 491 N/A INTRINSIC
Blast:H2B 492 590 3e-8 BLAST
low complexity region 613 631 N/A INTRINSIC
coiled coil region 659 701 N/A INTRINSIC
Grip 719 766 8.28e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147036
Predicted Effect probably benign
Transcript: ENSMUST00000169841
SMART Domains Protein: ENSMUSP00000127281
Gene: ENSMUSG00000020440

DomainStartEndE-ValueType
ARF 1 180 5.83e-121 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G T 7: 120,519,961 G975V probably damaging Het
Abcg5 T A 17: 84,671,147 E294D probably benign Het
Actl10 G A 2: 154,552,233 R35H probably damaging Het
Adamts12 C T 15: 11,310,579 T974I probably damaging Het
Ahctf1 C A 1: 179,769,452 R43L probably damaging Het
Arhgef10 A G 8: 14,934,820 D200G probably damaging Het
Arhgef38 T C 3: 133,160,753 K208E probably benign Het
Arhgef7 A T 8: 11,728,256 N2I possibly damaging Het
Blvra T G 2: 127,086,897 S102A probably damaging Het
Btn1a1 A G 13: 23,461,521 L226P probably damaging Het
C2cd4d G T 3: 94,363,618 E64* probably null Het
Ccna2 A G 3: 36,568,726 V209A probably damaging Het
Cd55 T A 1: 130,459,617 D148V possibly damaging Het
Cdh2 G A 18: 16,774,543 P46L probably benign Het
Cldn11 A G 3: 31,163,151 Y156C probably damaging Het
Cmtm2a T C 8: 104,293,023 R12G possibly damaging Het
Cog2 T C 8: 124,528,985 S104P possibly damaging Het
Col4a3 T G 1: 82,654,957 F184V unknown Het
Col4a4 T A 1: 82,456,871 D1406V unknown Het
Col6a1 T C 10: 76,721,498 T207A probably benign Het
Cyp2a12 A G 7: 27,036,646 *493W probably null Het
Dcdc2a T G 13: 25,119,285 S266R possibly damaging Het
Dmd G C X: 84,312,483 A2257P probably benign Het
Ecel1 A G 1: 87,148,275 S727P probably damaging Het
Eif2ak4 T A 2: 118,455,793 V1063E probably damaging Het
Enpp2 A T 15: 54,897,792 Y44* probably null Het
Ep400 A T 5: 110,708,850 probably benign Het
Exoc6b A G 6: 84,621,482 M779T probably benign Het
F13a1 T A 13: 37,025,679 Y104F probably benign Het
Fam78b G A 1: 167,078,709 V146M probably damaging Het
Fgf18 A C 11: 33,118,003 F129C probably damaging Het
Gm5773 G A 3: 93,773,317 G99R possibly damaging Het
Grk1 A T 8: 13,405,221 Y35F probably benign Het
Heatr1 T C 13: 12,403,264 V359A probably benign Het
Hfm1 A G 5: 106,896,255 S567P probably damaging Het
Il1rap A T 16: 26,710,565 H379L probably damaging Het
Kctd5 T C 17: 24,055,966 T212A probably benign Het
Krtap5-5 A T 7: 142,229,503 C137S unknown Het
Lrp2 T C 2: 69,483,707 T2227A probably damaging Het
Ltbp1 T A 17: 75,310,159 V1031E possibly damaging Het
Ltbr A G 6: 125,309,477 S249P probably benign Het
Map1a T A 2: 121,299,446 Y248N probably damaging Het
Mdc1 C T 17: 35,847,943 A405V probably benign Het
Mfsd4b1 T C 10: 40,002,651 K417E possibly damaging Het
Mroh2a T C 1: 88,256,754 V1453A probably benign Het
Myh11 T C 16: 14,218,004 E1027G probably damaging Het
Nudt6 A C 3: 37,412,405 F80L probably benign Het
Nxph1 A G 6: 9,247,791 K254R probably damaging Het
Obsl1 C T 1: 75,493,883 R1043H probably benign Het
Olfr17 A T 7: 107,098,109 I215F probably damaging Het
Pde6d A G 1: 86,545,802 F91L probably benign Het
Phldb2 T A 16: 45,762,941 I1065F probably damaging Het
Ppp1r3a A T 6: 14,721,875 N317K possibly damaging Het
Psmd1 T A 1: 86,078,700 S263T possibly damaging Het
Pum1 C A 4: 130,669,270 T112K possibly damaging Het
Rasgrp2 T A 19: 6,404,395 M156K probably benign Het
Reg3a T C 6: 78,381,136 C17R possibly damaging Het
Ripor2 A G 13: 24,713,718 S800G probably damaging Het
Rnf168 T G 16: 32,278,218 L37R probably damaging Het
Rnf31 A G 14: 55,596,197 D554G probably damaging Het
Rpe T C 1: 66,715,228 M153T probably damaging Het
Sacs A T 14: 61,212,316 Q3937L probably damaging Het
Sap18 T A 14: 57,798,554 S66T probably damaging Het
Slc20a1 T G 2: 129,199,819 I34S possibly damaging Het
Slc25a30 A G 14: 75,770,218 S116P possibly damaging Het
Speer4c T A 5: 15,714,117 D29V possibly damaging Het
Stk40 C T 4: 126,128,847 T138I probably benign Het
Susd3 A G 13: 49,231,150 Y254H probably damaging Het
Tanc2 T C 11: 105,895,949 L858P probably damaging Het
Tas2r106 A T 6: 131,678,354 L178H probably damaging Het
Tfpt C T 7: 3,628,931 R60Q probably damaging Het
Tmem44 T A 16: 30,547,444 K55* probably null Het
Tnfsf9 A T 17: 57,107,316 probably null Het
Ube3c T C 5: 29,619,606 I543T probably benign Het
Ugt1a2 C A 1: 88,201,013 S126Y possibly damaging Het
Vmn1r180 T A 7: 23,953,141 L243Q probably damaging Het
Vmn2r15 A C 5: 109,286,456 V794G probably damaging Het
Vmn2r24 A G 6: 123,815,394 D560G possibly damaging Het
Wdr11 G A 7: 129,631,766 C1028Y probably damaging Het
Zfp318 A G 17: 46,413,371 D2100G probably benign Het
Zfyve16 A T 13: 92,519,483 Y789* probably null Het
Other mutations in Fscn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Fscn3 APN 6 28430506 missense probably benign 0.43
IGL01312:Fscn3 APN 6 28434470 missense probably damaging 0.99
IGL01634:Fscn3 APN 6 28430538 missense probably damaging 1.00
IGL01899:Fscn3 APN 6 28436079 missense probably damaging 1.00
IGL01928:Fscn3 APN 6 28430182 missense possibly damaging 0.65
IGL02334:Fscn3 APN 6 28428154 unclassified probably null
IGL02959:Fscn3 APN 6 28435998 missense possibly damaging 0.93
IGL03201:Fscn3 APN 6 28430605 missense probably benign 0.07
IGL03202:Fscn3 APN 6 28434452 missense probably benign 0.10
IGL03227:Fscn3 APN 6 28434430 missense probably benign 0.00
0152:Fscn3 UTSW 6 28429967 unclassified probably benign
R1478:Fscn3 UTSW 6 28430568 missense probably benign
R1502:Fscn3 UTSW 6 28435623 missense probably benign 0.05
R1955:Fscn3 UTSW 6 28430236 missense possibly damaging 0.82
R2135:Fscn3 UTSW 6 28431584 missense probably benign 0.02
R3713:Fscn3 UTSW 6 28428092 missense possibly damaging 0.89
R3715:Fscn3 UTSW 6 28428092 missense possibly damaging 0.89
R3778:Fscn3 UTSW 6 28430032 missense possibly damaging 0.72
R4572:Fscn3 UTSW 6 28430635 unclassified probably null
R4745:Fscn3 UTSW 6 28435628 missense probably damaging 0.98
R4764:Fscn3 UTSW 6 28436201 makesense probably null
R4794:Fscn3 UTSW 6 28430596 missense probably damaging 1.00
R5738:Fscn3 UTSW 6 28430031 missense possibly damaging 0.56
R5951:Fscn3 UTSW 6 28436174 missense possibly damaging 0.88
R5994:Fscn3 UTSW 6 28430295 missense probably benign
R6595:Fscn3 UTSW 6 28430175 missense probably damaging 1.00
R7323:Fscn3 UTSW 6 28431545 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TGGTCGCTATCTTGAGTCCG -3'
(R):5'- GCCCAGTAGAAGATGTGAACCC -3'

Sequencing Primer
(F):5'- AGGATGTATTCTGCAACTCCAGG -3'
(R):5'- ACCCTGCGGATACAATGTG -3'
Posted On2014-09-17