Incidental Mutation 'R3715:Fscn3'
ID 476161
Institutional Source Beutler Lab
Gene Symbol Fscn3
Ensembl Gene ENSMUSG00000029707
Gene Name fascin actin-bundling protein 3
Synonyms
MMRRC Submission 040708-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R3715 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 28427888-28438621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28428091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 26 (T26I)
Ref Sequence ENSEMBL: ENSMUSP00000031719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020717] [ENSMUST00000031719] [ENSMUST00000064377] [ENSMUST00000169841] [ENSMUST00000170767]
AlphaFold Q9QXW4
Predicted Effect probably benign
Transcript: ENSMUST00000020717
SMART Domains Protein: ENSMUSP00000020717
Gene: ENSMUSG00000020440

DomainStartEndE-ValueType
ARF 1 180 5.83e-121 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000031719
AA Change: T26I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031719
Gene: ENSMUSG00000029707
AA Change: T26I

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 probably benign
Transcript: ENSMUST00000169841
SMART Domains Protein: ENSMUSP00000127281
Gene: ENSMUSG00000020440

DomainStartEndE-ValueType
ARF 1 180 5.83e-121 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202028
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T C 16: 88,424,081 (GRCm39) M137V probably benign Het
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Aaas T C 15: 102,248,771 (GRCm39) I236V probably benign Het
Abcd4 C T 12: 84,658,533 (GRCm39) M223I probably benign Het
Adamtsl1 T A 4: 86,135,213 (GRCm39) I246N probably benign Het
Ak9 A G 10: 41,233,508 (GRCm39) D582G probably damaging Het
Aqr A G 2: 113,949,150 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,187 (GRCm39) K360E probably damaging Het
Cacna2d3 T C 14: 29,068,880 (GRCm39) I282M probably damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Dexi A T 16: 10,360,553 (GRCm39) M1K probably null Het
Dlat A G 9: 50,549,354 (GRCm39) V510A probably damaging Het
Eaf1 T C 14: 31,224,402 (GRCm39) I173T possibly damaging Het
Elavl3 G T 9: 21,929,895 (GRCm39) D336E probably benign Het
Epm2a A G 10: 11,219,420 (GRCm39) Y69C probably benign Het
Fam168a A G 7: 100,473,432 (GRCm39) N107S probably damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fras1 T C 5: 96,793,829 (GRCm39) probably null Het
Glt8d2 C A 10: 82,488,571 (GRCm39) A300S probably benign Het
Hcn4 G A 9: 58,751,319 (GRCm39) R315H unknown Het
Lipk A G 19: 34,017,829 (GRCm39) N289S probably damaging Het
Lyg1 G T 1: 37,989,759 (GRCm39) R43S probably damaging Het
Marchf6 A G 15: 31,465,405 (GRCm39) L833P probably benign Het
Mc4r T A 18: 66,992,892 (GRCm39) N74Y probably damaging Het
Med17 G A 9: 15,175,062 (GRCm39) probably benign Het
Mink1 G T 11: 70,499,776 (GRCm39) R773L possibly damaging Het
Myo15a A T 11: 60,370,057 (GRCm39) E939V possibly damaging Het
Ndst4 A T 3: 125,355,154 (GRCm39) H354L possibly damaging Het
Or2t26 T C 11: 49,039,642 (GRCm39) L186P probably damaging Het
Or4c15 A G 2: 88,759,757 (GRCm39) W301R probably benign Het
Or4p22 C A 2: 88,317,787 (GRCm39) T237N probably damaging Het
Otof T A 5: 30,534,215 (GRCm39) K1397* probably null Het
Rangap1 C A 15: 81,594,661 (GRCm39) E389D probably benign Het
Rbfox2 A G 15: 76,983,451 (GRCm39) I270T probably damaging Het
Rnf217 G T 10: 31,410,728 (GRCm39) C322* probably null Het
Sbk1 A G 7: 125,889,183 (GRCm39) T50A probably benign Het
Shmt1 T C 11: 60,688,402 (GRCm39) T248A probably damaging Het
Smim29 G A 17: 27,785,043 (GRCm39) probably benign Het
Sox30 C T 11: 45,875,619 (GRCm39) T457I probably damaging Het
Stox2 T A 8: 47,866,187 (GRCm39) I52F possibly damaging Het
Syncrip A T 9: 88,361,738 (GRCm39) probably benign Het
Tars3 G A 7: 65,338,700 (GRCm39) probably null Het
Tdrd12 T C 7: 35,204,405 (GRCm39) E235G probably benign Het
Tmem82 A T 4: 141,344,945 (GRCm39) probably null Het
Tro T C X: 149,437,230 (GRCm39) T476A probably damaging Het
Ttn G A 2: 76,561,363 (GRCm39) P27302S probably damaging Het
Ttn C T 2: 76,571,610 (GRCm39) V26428I probably damaging Het
Usp53 T C 3: 122,742,968 (GRCm39) E656G probably benign Het
Vmn2r100 A G 17: 19,752,272 (GRCm39) R772G probably damaging Het
Xkr5 T C 8: 18,984,474 (GRCm39) E190G probably benign Het
Zfp236 A G 18: 82,651,095 (GRCm39) probably benign Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign Het
Zp2 A T 7: 119,741,057 (GRCm39) S156T possibly damaging Het
Zswim5 A G 4: 116,819,755 (GRCm39) T387A probably benign Het
Other mutations in Fscn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Fscn3 APN 6 28,430,505 (GRCm39) missense probably benign 0.43
IGL01312:Fscn3 APN 6 28,434,469 (GRCm39) missense probably damaging 0.99
IGL01634:Fscn3 APN 6 28,430,537 (GRCm39) missense probably damaging 1.00
IGL01899:Fscn3 APN 6 28,436,078 (GRCm39) missense probably damaging 1.00
IGL01928:Fscn3 APN 6 28,430,181 (GRCm39) missense possibly damaging 0.65
IGL02334:Fscn3 APN 6 28,428,153 (GRCm39) splice site probably null
IGL02959:Fscn3 APN 6 28,435,997 (GRCm39) missense possibly damaging 0.93
IGL03201:Fscn3 APN 6 28,430,604 (GRCm39) missense probably benign 0.07
IGL03202:Fscn3 APN 6 28,434,451 (GRCm39) missense probably benign 0.10
IGL03227:Fscn3 APN 6 28,434,429 (GRCm39) missense probably benign 0.00
0152:Fscn3 UTSW 6 28,429,966 (GRCm39) unclassified probably benign
R1478:Fscn3 UTSW 6 28,430,567 (GRCm39) missense probably benign
R1502:Fscn3 UTSW 6 28,435,622 (GRCm39) missense probably benign 0.05
R1955:Fscn3 UTSW 6 28,430,235 (GRCm39) missense possibly damaging 0.82
R2122:Fscn3 UTSW 6 28,430,388 (GRCm39) missense probably benign 0.18
R2135:Fscn3 UTSW 6 28,431,583 (GRCm39) missense probably benign 0.02
R3713:Fscn3 UTSW 6 28,428,091 (GRCm39) missense possibly damaging 0.89
R3778:Fscn3 UTSW 6 28,430,031 (GRCm39) missense possibly damaging 0.72
R4572:Fscn3 UTSW 6 28,430,634 (GRCm39) splice site probably null
R4745:Fscn3 UTSW 6 28,435,627 (GRCm39) missense probably damaging 0.98
R4764:Fscn3 UTSW 6 28,436,200 (GRCm39) makesense probably null
R4794:Fscn3 UTSW 6 28,430,595 (GRCm39) missense probably damaging 1.00
R5738:Fscn3 UTSW 6 28,430,030 (GRCm39) missense possibly damaging 0.56
R5951:Fscn3 UTSW 6 28,436,173 (GRCm39) missense possibly damaging 0.88
R5994:Fscn3 UTSW 6 28,430,294 (GRCm39) missense probably benign
R6595:Fscn3 UTSW 6 28,430,174 (GRCm39) missense probably damaging 1.00
R7323:Fscn3 UTSW 6 28,431,544 (GRCm39) missense possibly damaging 0.53
R7738:Fscn3 UTSW 6 28,434,445 (GRCm39) missense probably benign 0.01
R7840:Fscn3 UTSW 6 28,430,175 (GRCm39) missense probably damaging 1.00
R8169:Fscn3 UTSW 6 28,430,328 (GRCm39) missense possibly damaging 0.79
R8991:Fscn3 UTSW 6 28,434,472 (GRCm39) missense probably benign
R9111:Fscn3 UTSW 6 28,430,310 (GRCm39) missense probably damaging 0.98
R9350:Fscn3 UTSW 6 28,430,432 (GRCm39) nonsense probably null
R9370:Fscn3 UTSW 6 28,434,535 (GRCm39) missense probably benign
R9410:Fscn3 UTSW 6 28,430,432 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2017-05-11