Incidental Mutation 'IGL01928:Fscn3'
ID180343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fscn3
Ensembl Gene ENSMUSG00000029707
Gene Namefascin actin-bundling protein 3
SynonymsOTTMUSP00000023543; fascin (testis); fascin 3
Accession Numbers

Genbank: NM_019569; MGI:1890386

Is this an essential gene? Probably non essential (E-score: 0.177) question?
Stock #IGL01928
Quality Score
Status
Chromosome6
Chromosomal Location28427789-28438622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28430182 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 117 (E117G)
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 possibly damaging
Transcript: ENSMUST00000031719
AA Change: E117G

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031719
Gene: ENSMUSG00000029707
AA Change: E117G

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,683,342 T5024S probably benign Het
Adam23 C A 1: 63,557,446 N562K probably damaging Het
Brd9 G A 13: 73,955,511 M503I probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp2j8 A T 4: 96,470,476 probably benign Het
Erich6 T C 3: 58,621,271 I519M probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm45234 A G 6: 124,745,004 probably benign Het
Ighv1-47 T A 12: 114,991,293 M56L probably benign Het
Klf4 A G 4: 55,530,949 L45P probably benign Het
Ksr1 A C 11: 79,044,839 probably null Het
L3mbtl3 T C 10: 26,330,245 N341S unknown Het
Mfsd12 T C 10: 81,365,788 probably benign Het
Nlrp9c A T 7: 26,375,422 probably benign Het
Ntrk2 T A 13: 58,846,851 C194S probably damaging Het
Olfm4 G A 14: 80,011,952 V170I possibly damaging Het
Olfr936 A C 9: 39,047,413 D46E unknown Het
Onecut1 C A 9: 74,889,533 Q445K possibly damaging Het
Pak6 A G 2: 118,689,864 Q112R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rapgef2 C T 3: 79,103,963 E124K probably damaging Het
Snx14 T C 9: 88,381,512 T893A probably benign Het
Spag17 T C 3: 99,940,074 probably benign Het
Tgds T C 14: 118,116,129 T259A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zc3h12a A G 4: 125,119,986 S362P probably benign Het
Zfyve16 A G 13: 92,504,498 I1246T probably damaging 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
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
R2122:Fscn3 UTSW 6 28430389 missense probably benign 0.18
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
R7738:Fscn3 UTSW 6 28434446 missense probably benign 0.01
R7840:Fscn3 UTSW 6 28430176 missense probably damaging 1.00
R7923:Fscn3 UTSW 6 28430176 missense probably damaging 1.00
Posted On2014-05-07