Incidental Mutation 'IGL00331:Flii'
ID4585
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flii
Ensembl Gene ENSMUSG00000002812
Gene Nameflightless I actin binding protein
SynonymsFliih, 3632430F08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00331
Quality Score
Status
Chromosome11
Chromosomal Location60714123-60727263 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60715833 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 1061 (I1061T)
Ref Sequence ENSEMBL: ENSMUSP00000002889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002889] [ENSMUST00000052346] [ENSMUST00000108719]
Predicted Effect probably benign
Transcript: ENSMUST00000002889
AA Change: I1061T

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: I1061T

DomainStartEndE-ValueType
LRR 55 78 1.08e-1 SMART
LRR 103 126 4.08e0 SMART
LRR 127 149 2.27e1 SMART
LRR 150 173 1.25e-1 SMART
LRR 222 244 6.78e1 SMART
LRR 245 268 2.86e-1 SMART
LRR 269 291 3.78e-1 SMART
LRR 316 339 2.82e0 SMART
LRR 340 362 2.27e2 SMART
low complexity region 403 420 N/A INTRINSIC
GEL 499 597 4.17e-25 SMART
GEL 617 709 1.72e-26 SMART
low complexity region 727 740 N/A INTRINSIC
GEL 745 838 2.24e-25 SMART
GEL 905 1039 1.13e-3 SMART
GEL 1056 1152 7.28e-16 SMART
GEL 1167 1263 5.51e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052346
SMART Domains Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536

DomainStartEndE-ValueType
WD40 22 62 4.42e1 SMART
WD40 64 103 1.65e1 SMART
WD40 187 223 2.74e2 SMART
WD40 226 264 2.06e0 SMART
Pfam:LLGL 278 379 1.2e-43 PFAM
WD40 424 460 3.2e0 SMART
Blast:WD40 498 541 2e-13 BLAST
Blast:WD40 585 624 4e-9 BLAST
Pfam:Lgl_C 732 978 1.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108719
SMART Domains Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536

DomainStartEndE-ValueType
WD40 22 62 4.42e1 SMART
WD40 64 103 1.65e1 SMART
WD40 187 223 2.74e2 SMART
WD40 226 264 2.06e0 SMART
Pfam:LLGL 275 379 2e-48 PFAM
WD40 424 460 3.2e0 SMART
Blast:WD40 498 540 2e-13 BLAST
Blast:WD40 585 624 4e-9 BLAST
Pfam:Lgl_C 804 976 1.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154465
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein with gelsolin-like repeats and an N-terminal leucine-rich repeat domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. This protein may act as an actin-remodelling protein as well as a transcriptional coactivator. Homozygous knockout mice show embryonic lethality. This protein may act to regulate wound repair. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Embryos homozygous for a knock-out allele are able to initiate uterine implantation but degenerate rapidly thereafter. Heterozygous mutant mice display enhanced wound healing with increased epithelial migration and improved wound contraction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,281,436 probably benign Het
Adamts19 T A 18: 59,007,325 probably benign Het
Afg3l1 T A 8: 123,487,389 F190I probably benign Het
Alms1 T A 6: 85,641,371 S2800T possibly damaging Het
Alox5 A T 6: 116,415,517 W348R probably damaging Het
Atp13a5 G A 16: 29,267,014 Q823* probably null Het
Atp6v1b2 T C 8: 69,088,934 probably null Het
Chuk T C 19: 44,088,023 I416M possibly damaging Het
Dmbt1 A T 7: 131,099,290 Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,620 T3873A probably damaging Het
Endog C T 2: 30,172,900 T184M probably damaging Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp T C 7: 28,101,541 probably benign Het
Hdac2 T A 10: 36,997,071 N308K probably damaging Het
Hoxa2 T G 6: 52,163,517 Y163S probably damaging Het
Hsd3b7 T C 7: 127,802,972 L263P probably damaging Het
Klf17 T C 4: 117,761,038 T41A probably benign Het
Lrrfip1 T C 1: 91,068,621 M42T probably damaging Het
Mapk8ip1 C T 2: 92,385,188 V614I probably benign Het
Mocs1 T G 17: 49,435,264 probably null Het
Moxd1 T C 10: 24,282,555 probably benign Het
Mterf1a T C 5: 3,891,610 E86G probably damaging Het
Muc4 A G 16: 32,753,185 D1021G probably benign Het
Nomo1 T C 7: 46,045,336 S212P possibly damaging Het
Olfr1471 A G 19: 13,445,624 D204G probably benign Het
Olfr893 T A 9: 38,209,238 Y60N probably damaging Het
Phf21a A C 2: 92,348,029 T385P probably damaging Het
Piwil4 A T 9: 14,715,031 probably benign Het
Pknox1 T C 17: 31,599,645 probably null Het
Prr14l T C 5: 32,831,066 I362V probably benign Het
Sergef C T 7: 46,635,420 probably null Het
Sez6l T C 5: 112,424,645 D948G probably damaging Het
Skor1 A T 9: 63,146,441 L54Q probably damaging Het
Sntn C T 14: 13,679,086 Q87* probably null Het
Syde2 A G 3: 146,014,341 K772E possibly damaging Het
Taf2 T A 15: 55,071,449 probably null Het
Tbc1d13 T A 2: 30,140,511 Y113N probably damaging Het
Tmem154 T C 3: 84,684,415 F91L probably benign Het
Tmem63a A G 1: 180,966,497 D533G possibly damaging Het
Tmprss15 A T 16: 78,985,994 N712K possibly damaging Het
Trip12 A T 1: 84,730,541 D603E probably damaging Het
Trmt11 T C 10: 30,566,449 D246G probably damaging Het
Vmn1r174 T A 7: 23,754,533 M208K possibly damaging Het
Wdr54 T C 6: 83,155,773 H33R probably benign Het
Zfp207 A G 11: 80,389,002 D111G probably benign Het
Other mutations in Flii
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Flii APN 11 60723415 missense probably benign 0.03
IGL01530:Flii APN 11 60720182 nonsense probably null
IGL01678:Flii APN 11 60716846 unclassified probably benign
IGL01938:Flii APN 11 60715116 missense probably damaging 1.00
IGL02211:Flii APN 11 60718298 unclassified probably benign
IGL02626:Flii APN 11 60719859 missense probably benign 0.37
IGL03038:Flii APN 11 60724832 missense probably benign 0.01
IGL03412:Flii APN 11 60722640 missense probably damaging 0.99
Dry_tortugas UTSW 11 60720757 nonsense probably null
R0135:Flii UTSW 11 60723378 missense probably damaging 0.99
R0350:Flii UTSW 11 60721857 missense probably damaging 1.00
R0355:Flii UTSW 11 60719680 splice site probably null
R0524:Flii UTSW 11 60720061 missense probably damaging 0.98
R0636:Flii UTSW 11 60715552 missense probably damaging 1.00
R0639:Flii UTSW 11 60722997 splice site probably null
R1515:Flii UTSW 11 60721606 critical splice acceptor site probably null
R1544:Flii UTSW 11 60719692 critical splice donor site probably null
R1782:Flii UTSW 11 60714636 missense probably benign
R2922:Flii UTSW 11 60718916 missense probably damaging 1.00
R3691:Flii UTSW 11 60719757 missense probably benign 0.03
R3753:Flii UTSW 11 60715480 missense probably benign
R3875:Flii UTSW 11 60720492 missense probably benign
R3876:Flii UTSW 11 60719872 missense possibly damaging 0.85
R3924:Flii UTSW 11 60720076 missense probably damaging 1.00
R4621:Flii UTSW 11 60716111 missense possibly damaging 0.95
R4789:Flii UTSW 11 60715093 missense probably benign 0.33
R5153:Flii UTSW 11 60716686 missense possibly damaging 0.89
R5326:Flii UTSW 11 60718862 missense probably benign 0.30
R5340:Flii UTSW 11 60717268 missense probably damaging 0.99
R5364:Flii UTSW 11 60720128 missense probably benign 0.00
R5542:Flii UTSW 11 60718862 missense probably benign 0.30
R5592:Flii UTSW 11 60720399 missense probably benign 0.00
R5859:Flii UTSW 11 60716311 nonsense probably null
R5968:Flii UTSW 11 60720212 missense probably benign
R6009:Flii UTSW 11 60720757 nonsense probably null
R6287:Flii UTSW 11 60721597 missense probably damaging 1.00
R6368:Flii UTSW 11 60721136 missense probably damaging 1.00
R6997:Flii UTSW 11 60722325 missense probably benign 0.14
R7099:Flii UTSW 11 60720655 missense probably benign 0.05
R7324:Flii UTSW 11 60719040 missense probably benign
R7366:Flii UTSW 11 60721119 missense possibly damaging 0.67
R7371:Flii UTSW 11 60718264 missense probably benign 0.41
R7571:Flii UTSW 11 60721136 missense probably damaging 1.00
R7669:Flii UTSW 11 60722664 missense probably damaging 1.00
R7677:Flii UTSW 11 60720145 missense probably damaging 0.99
R7698:Flii UTSW 11 60720092 missense probably damaging 1.00
RF011:Flii UTSW 11 60716243 missense probably benign 0.04
X0025:Flii UTSW 11 60721708 missense possibly damaging 0.62
Z1176:Flii UTSW 11 60722313 missense possibly damaging 0.69
Posted On2012-04-20