Incidental Mutation 'R3876:Flii'
ID 276856
Institutional Source Beutler Lab
Gene Symbol Flii
Ensembl Gene ENSMUSG00000002812
Gene Name flightless I actin binding protein
Synonyms Fliih, 3632430F08Rik
MMRRC Submission 041606-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3876 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 60714123-60727263 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60719872 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 533 (T533A)
Ref Sequence ENSEMBL: ENSMUSP00000002889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002889]
AlphaFold Q9JJ28
Predicted Effect possibly damaging
Transcript: ENSMUST00000002889
AA Change: T533A

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: T533A

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
Meta Mutation Damage Score 0.5323 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (53/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,591,400 (GRCm38) R215* probably null Het
Brinp2 C A 1: 158,246,846 (GRCm38) L568F probably damaging Het
Brip1 T C 11: 86,152,790 (GRCm38) Y316C probably damaging Het
Cdk5rap2 ATGTG ATG 4: 70,289,977 (GRCm38) probably null Het
Cfap69 G T 5: 5,584,645 (GRCm38) probably benign Het
Chrnb4 T C 9: 55,043,898 (GRCm38) E27G probably damaging Het
Clec14a A G 12: 58,268,644 (GRCm38) V64A possibly damaging Het
Crygs A G 16: 22,806,512 (GRCm38) Y60H probably damaging Het
Dpp10 T A 1: 123,353,487 (GRCm38) Q611L probably damaging Het
Entpd1 T C 19: 40,736,820 (GRCm38) L450P probably damaging Het
Eogt G A 6: 97,120,190 (GRCm38) S317L probably damaging Het
Exosc10 T A 4: 148,572,919 (GRCm38) S584T probably benign Het
Fam184a C T 10: 53,699,061 (GRCm38) V151I probably damaging Het
Fbxo43 A G 15: 36,152,112 (GRCm38) V517A probably damaging Het
Frmpd1 T G 4: 45,284,093 (GRCm38) H971Q probably benign Het
Gata3 A T 2: 9,863,143 (GRCm38) N333K probably damaging Het
Hectd1 A G 12: 51,768,730 (GRCm38) S1525P probably damaging Het
Ibtk A G 9: 85,718,426 (GRCm38) I816T probably benign Het
Kirrel1 C T 3: 87,089,151 (GRCm38) M380I probably null Het
Krt34 T C 11: 100,040,965 (GRCm38) T143A probably benign Het
Lipn G T 19: 34,069,428 (GRCm38) M43I probably benign Het
Lrp1b A G 2: 41,445,194 (GRCm38) C779R probably damaging Het
Mios G A 6: 8,233,189 (GRCm38) R779Q probably damaging Het
Mme A T 3: 63,362,059 (GRCm38) probably benign Het
Ncstn A G 1: 172,070,073 (GRCm38) S418P probably benign Het
Oprk1 T A 1: 5,602,661 (GRCm38) C340* probably null Het
Or10d1c T A 9: 38,982,870 (GRCm38) Y58F probably damaging Het
Or4c29 T C 2: 88,909,608 (GRCm38) T262A possibly damaging Het
Or4k39 T C 2: 111,408,622 (GRCm38) V69A possibly damaging Het
Or6c210 C T 10: 129,660,274 (GRCm38) P156L probably benign Het
Or6z7 G A 7: 6,481,132 (GRCm38) A8V probably benign Het
Pald1 T A 10: 61,347,487 (GRCm38) N323Y probably damaging Het
Pcdhac1 C A 18: 37,091,892 (GRCm38) A586E probably damaging Het
Pcnx2 C T 8: 125,888,158 (GRCm38) A185T probably benign Het
Pik3r1 G A 13: 101,684,957 (GRCm38) H430Y probably benign Het
Polr3b G A 10: 84,720,518 (GRCm38) probably null Het
Prl8a6 A T 13: 27,433,032 (GRCm38) L225* probably null Het
Psme4 T C 11: 30,856,068 (GRCm38) S89P probably damaging Het
Pygl G A 12: 70,201,339 (GRCm38) T250I probably damaging Het
Rgs13 T A 1: 144,140,790 (GRCm38) K72* probably null Het
Ryr2 T A 13: 11,588,159 (GRCm38) I4514F probably damaging Het
Septin3 A T 15: 82,285,801 (GRCm38) D32V probably damaging Het
Sfrp2 C T 3: 83,767,028 (GRCm38) P163S possibly damaging Het
Spata31 A G 13: 64,920,931 (GRCm38) T298A probably benign Het
Stxbp2 T C 8: 3,633,369 (GRCm38) probably null Het
Syne1 A T 10: 5,052,345 (GRCm38) M282K possibly damaging Het
Timd2 T C 11: 46,671,020 (GRCm38) probably null Het
Tlr11 G A 14: 50,363,154 (GRCm38) V866I probably benign Het
Trappc10 T C 10: 78,220,186 (GRCm38) probably null Het
Zfp512b AG AGG 2: 181,588,763 (GRCm38) probably null Het
Other mutations in Flii
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Flii APN 11 60,723,415 (GRCm38) missense probably benign 0.03
IGL00331:Flii APN 11 60,715,833 (GRCm38) missense probably benign 0.40
IGL01530:Flii APN 11 60,720,182 (GRCm38) nonsense probably null
IGL01678:Flii APN 11 60,716,846 (GRCm38) unclassified probably benign
IGL01938:Flii APN 11 60,715,116 (GRCm38) missense probably damaging 1.00
IGL02211:Flii APN 11 60,718,298 (GRCm38) unclassified probably benign
IGL02626:Flii APN 11 60,719,859 (GRCm38) missense probably benign 0.37
IGL03038:Flii APN 11 60,724,832 (GRCm38) missense probably benign 0.01
IGL03412:Flii APN 11 60,722,640 (GRCm38) missense probably damaging 0.99
R0135:Flii UTSW 11 60,723,378 (GRCm38) missense probably damaging 0.99
R0350:Flii UTSW 11 60,721,857 (GRCm38) missense probably damaging 1.00
R0355:Flii UTSW 11 60,719,680 (GRCm38) splice site probably null
R0524:Flii UTSW 11 60,720,061 (GRCm38) missense probably damaging 0.98
R0636:Flii UTSW 11 60,715,552 (GRCm38) missense probably damaging 1.00
R0639:Flii UTSW 11 60,722,997 (GRCm38) splice site probably null
R1515:Flii UTSW 11 60,721,606 (GRCm38) critical splice acceptor site probably null
R1544:Flii UTSW 11 60,719,692 (GRCm38) critical splice donor site probably null
R1782:Flii UTSW 11 60,714,636 (GRCm38) missense probably benign
R2922:Flii UTSW 11 60,718,916 (GRCm38) missense probably damaging 1.00
R3691:Flii UTSW 11 60,719,757 (GRCm38) missense probably benign 0.03
R3753:Flii UTSW 11 60,715,480 (GRCm38) missense probably benign
R3875:Flii UTSW 11 60,720,492 (GRCm38) missense probably benign
R3924:Flii UTSW 11 60,720,076 (GRCm38) missense probably damaging 1.00
R4621:Flii UTSW 11 60,716,111 (GRCm38) missense possibly damaging 0.95
R4789:Flii UTSW 11 60,715,093 (GRCm38) missense probably benign 0.33
R5153:Flii UTSW 11 60,716,686 (GRCm38) missense possibly damaging 0.89
R5326:Flii UTSW 11 60,718,862 (GRCm38) missense probably benign 0.30
R5340:Flii UTSW 11 60,717,268 (GRCm38) missense probably damaging 0.99
R5364:Flii UTSW 11 60,720,128 (GRCm38) missense probably benign 0.00
R5542:Flii UTSW 11 60,718,862 (GRCm38) missense probably benign 0.30
R5592:Flii UTSW 11 60,720,399 (GRCm38) missense probably benign 0.00
R5859:Flii UTSW 11 60,716,311 (GRCm38) nonsense probably null
R5968:Flii UTSW 11 60,720,212 (GRCm38) missense probably benign
R6009:Flii UTSW 11 60,720,757 (GRCm38) nonsense probably null
R6287:Flii UTSW 11 60,721,597 (GRCm38) missense probably damaging 1.00
R6368:Flii UTSW 11 60,721,136 (GRCm38) missense probably damaging 1.00
R6997:Flii UTSW 11 60,722,325 (GRCm38) missense probably benign 0.14
R7099:Flii UTSW 11 60,720,655 (GRCm38) missense probably benign 0.05
R7324:Flii UTSW 11 60,719,040 (GRCm38) missense probably benign
R7366:Flii UTSW 11 60,721,119 (GRCm38) missense possibly damaging 0.67
R7371:Flii UTSW 11 60,718,264 (GRCm38) missense probably benign 0.41
R7571:Flii UTSW 11 60,721,136 (GRCm38) missense probably damaging 1.00
R7669:Flii UTSW 11 60,722,664 (GRCm38) missense probably damaging 1.00
R7677:Flii UTSW 11 60,720,145 (GRCm38) missense probably damaging 0.99
R7698:Flii UTSW 11 60,720,092 (GRCm38) missense probably damaging 1.00
R8485:Flii UTSW 11 60,716,237 (GRCm38) missense probably benign
R8821:Flii UTSW 11 60,725,248 (GRCm38) missense probably benign 0.00
R8831:Flii UTSW 11 60,725,248 (GRCm38) missense probably benign 0.00
R8839:Flii UTSW 11 60,718,607 (GRCm38) missense possibly damaging 0.82
R9380:Flii UTSW 11 60,715,471 (GRCm38) missense probably benign 0.23
R9448:Flii UTSW 11 60,715,567 (GRCm38) missense probably benign 0.04
R9598:Flii UTSW 11 60,727,165 (GRCm38) missense probably benign 0.01
RF011:Flii UTSW 11 60,716,243 (GRCm38) missense probably benign 0.04
X0025:Flii UTSW 11 60,721,708 (GRCm38) missense possibly damaging 0.62
Z1176:Flii UTSW 11 60,722,313 (GRCm38) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- TGTACATGTGGCCCGAGTTC -3'
(R):5'- CCATGGCAAGTTCTACGAGG -3'

Sequencing Primer
(F):5'- TGCACCTGCAGGAACTCCTC -3'
(R):5'- AAGTTCTACGAGGCTGACTGCTAC -3'
Posted On 2015-04-06