Incidental Mutation 'IGL02626:Flii'
ID301070
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 #IGL02626
Quality Score
Status
Chromosome11
Chromosomal Location60714123-60727263 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60719859 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 537 (D537G)
Ref Sequence ENSEMBL: ENSMUSP00000002889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002889]
Predicted Effect probably benign
Transcript: ENSMUST00000002889
AA Change: D537G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: D537G

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 noncoding transcript
Transcript: ENSMUST00000137226
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,065,609 K1236E probably damaging Het
Actl7a A T 4: 56,744,353 E293D possibly damaging Het
Adamts2 T C 11: 50,776,255 Y460H probably damaging Het
Aoc1 G A 6: 48,906,110 V307I probably benign Het
Ar C T X: 98,314,886 H756Y probably damaging Het
Atg3 C T 16: 45,183,685 R224W probably benign Het
Atp5o G A 16: 91,686,313 P47S probably damaging Het
Bicd1 A G 6: 149,409,556 E43G probably damaging Het
Ccdc129 T A 6: 55,968,646 V784D probably benign Het
Ccdc88c A G 12: 100,967,800 probably benign Het
Cd33 A G 7: 43,530,312 probably benign Het
Cd36 T A 5: 17,797,128 R292* probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh23 T C 10: 60,391,801 D1167G probably damaging Het
Cdk5rap1 A G 2: 154,365,960 probably null Het
Chd6 A G 2: 161,039,350 probably benign Het
Chd7 A T 4: 8,826,519 Y961F probably damaging Het
Cpe T C 8: 64,692,795 E52G probably benign Het
Cpne5 C T 17: 29,160,337 G491S probably damaging Het
Csmd3 A T 15: 47,704,107 probably benign Het
Ctbp2 T A 7: 132,999,211 T608S probably benign Het
Cybb A G X: 9,469,200 probably null Het
Daam2 T C 17: 49,490,254 T168A possibly damaging Het
Dnah5 G T 15: 28,307,276 V1717F possibly damaging Het
Dse G A 10: 34,153,162 T644I probably damaging Het
Dtd2 A C 12: 52,004,925 Y45* probably null Het
Fgfr1op2 T A 6: 146,590,011 M124K probably benign Het
Fntb T A 12: 76,897,371 I217N probably benign Het
Foxi1 A G 11: 34,205,860 S257P probably benign Het
Fyn G A 10: 39,526,802 R190H probably damaging Het
Gm28557 T A 13: 67,074,944 T8S probably benign Het
Gramd1b T C 9: 40,298,010 K873E probably damaging Het
Grb10 T C 11: 11,945,503 T329A probably benign Het
Haus5 A G 7: 30,657,250 L477P probably damaging Het
Hectd4 A T 5: 121,353,881 E3761V possibly damaging Het
Ift172 T C 5: 31,264,496 I930V probably benign Het
Izumo2 A G 7: 44,709,136 probably benign Het
Map4k4 A G 1: 40,014,097 probably benign Het
Morc1 A G 16: 48,615,760 S753G probably damaging Het
Mpzl2 C T 9: 45,044,292 T167I probably damaging Het
Mta2 T A 19: 8,949,168 I491N probably damaging Het
Myo18b A T 5: 112,878,085 I33N unknown Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Olfr1311 A T 2: 112,021,113 V247E probably damaging Het
Olfr1337 T C 4: 118,782,334 M84V probably damaging Het
Olfr74 T C 2: 87,973,724 N314D probably benign Het
Olfr926 T C 9: 38,877,488 L104S probably benign Het
Ralyl A T 3: 13,777,034 M77L probably benign Het
Rap1gap T A 4: 137,727,053 V649E probably benign Het
Rnf40 C A 7: 127,596,572 Q663K probably damaging Het
Slc22a18 T C 7: 143,499,100 L354P probably damaging Het
Slc9a8 T C 2: 167,467,677 probably benign Het
Surf4 C T 2: 26,925,607 probably null Het
T A T 17: 8,435,237 N85Y probably damaging Het
Tanc1 A G 2: 59,799,872 E732G probably damaging Het
Tas2r138 A G 6: 40,612,715 V199A possibly damaging Het
Trim43b T C 9: 89,085,488 Y365C possibly damaging Het
Ubd T C 17: 37,195,682 L153P probably damaging Het
Xpnpep2 A C X: 48,126,909 M513L probably benign Het
Zar1l C T 5: 150,517,745 G139R probably damaging Het
Zc3hav1 T G 6: 38,332,991 T299P probably damaging Het
Zfp236 C A 18: 82,657,995 probably benign Het
Other mutations in Flii
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Flii APN 11 60723415 missense probably benign 0.03
IGL00331:Flii APN 11 60715833 missense probably benign 0.40
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
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
Posted On2015-04-16