Incidental Mutation 'IGL03038:Flii'
ID 408790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flii
Ensembl Gene ENSMUSG00000002812
Gene Name flightless I actin binding protein
Synonyms Fliih, 3632430F08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03038
Quality Score
Status
Chromosome 11
Chromosomal Location 60604969-60618089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60615658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 69 (T69A)
Ref Sequence ENSEMBL: ENSMUSP00000002889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002889] [ENSMUST00000018743]
AlphaFold Q9JJ28
Predicted Effect probably benign
Transcript: ENSMUST00000002889
AA Change: T69A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: T69A

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: ENSMUST00000018743
SMART Domains Protein: ENSMUSP00000018743
Gene: ENSMUSG00000018599

DomainStartEndE-ValueType
transmembrane domain 30 47 N/A INTRINSIC
low complexity region 97 104 N/A INTRINSIC
Mab-21 181 448 2.78e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174993
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign Het
Other mutations in Flii
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Flii APN 11 60,614,241 (GRCm39) missense probably benign 0.03
IGL00331:Flii APN 11 60,606,659 (GRCm39) missense probably benign 0.40
IGL01530:Flii APN 11 60,611,008 (GRCm39) nonsense probably null
IGL01678:Flii APN 11 60,607,672 (GRCm39) unclassified probably benign
IGL01938:Flii APN 11 60,605,942 (GRCm39) missense probably damaging 1.00
IGL02211:Flii APN 11 60,609,124 (GRCm39) unclassified probably benign
IGL02626:Flii APN 11 60,610,685 (GRCm39) missense probably benign 0.37
IGL03412:Flii APN 11 60,613,466 (GRCm39) missense probably damaging 0.99
R0135:Flii UTSW 11 60,614,204 (GRCm39) missense probably damaging 0.99
R0350:Flii UTSW 11 60,612,683 (GRCm39) missense probably damaging 1.00
R0355:Flii UTSW 11 60,610,506 (GRCm39) splice site probably null
R0524:Flii UTSW 11 60,610,887 (GRCm39) missense probably damaging 0.98
R0636:Flii UTSW 11 60,606,378 (GRCm39) missense probably damaging 1.00
R0639:Flii UTSW 11 60,613,823 (GRCm39) splice site probably null
R1515:Flii UTSW 11 60,612,432 (GRCm39) critical splice acceptor site probably null
R1544:Flii UTSW 11 60,610,518 (GRCm39) critical splice donor site probably null
R1782:Flii UTSW 11 60,605,462 (GRCm39) missense probably benign
R2922:Flii UTSW 11 60,609,742 (GRCm39) missense probably damaging 1.00
R3691:Flii UTSW 11 60,610,583 (GRCm39) missense probably benign 0.03
R3753:Flii UTSW 11 60,606,306 (GRCm39) missense probably benign
R3875:Flii UTSW 11 60,611,318 (GRCm39) missense probably benign
R3876:Flii UTSW 11 60,610,698 (GRCm39) missense possibly damaging 0.85
R3924:Flii UTSW 11 60,610,902 (GRCm39) missense probably damaging 1.00
R4621:Flii UTSW 11 60,606,937 (GRCm39) missense possibly damaging 0.95
R4789:Flii UTSW 11 60,605,919 (GRCm39) missense probably benign 0.33
R5153:Flii UTSW 11 60,607,512 (GRCm39) missense possibly damaging 0.89
R5326:Flii UTSW 11 60,609,688 (GRCm39) missense probably benign 0.30
R5340:Flii UTSW 11 60,608,094 (GRCm39) missense probably damaging 0.99
R5364:Flii UTSW 11 60,610,954 (GRCm39) missense probably benign 0.00
R5542:Flii UTSW 11 60,609,688 (GRCm39) missense probably benign 0.30
R5592:Flii UTSW 11 60,611,225 (GRCm39) missense probably benign 0.00
R5859:Flii UTSW 11 60,607,137 (GRCm39) nonsense probably null
R5968:Flii UTSW 11 60,611,038 (GRCm39) missense probably benign
R6009:Flii UTSW 11 60,611,583 (GRCm39) nonsense probably null
R6287:Flii UTSW 11 60,612,423 (GRCm39) missense probably damaging 1.00
R6368:Flii UTSW 11 60,611,962 (GRCm39) missense probably damaging 1.00
R6997:Flii UTSW 11 60,613,151 (GRCm39) missense probably benign 0.14
R7099:Flii UTSW 11 60,611,481 (GRCm39) missense probably benign 0.05
R7324:Flii UTSW 11 60,609,866 (GRCm39) missense probably benign
R7366:Flii UTSW 11 60,611,945 (GRCm39) missense possibly damaging 0.67
R7371:Flii UTSW 11 60,609,090 (GRCm39) missense probably benign 0.41
R7571:Flii UTSW 11 60,611,962 (GRCm39) missense probably damaging 1.00
R7669:Flii UTSW 11 60,613,490 (GRCm39) missense probably damaging 1.00
R7677:Flii UTSW 11 60,610,971 (GRCm39) missense probably damaging 0.99
R7698:Flii UTSW 11 60,610,918 (GRCm39) missense probably damaging 1.00
R8485:Flii UTSW 11 60,607,063 (GRCm39) missense probably benign
R8821:Flii UTSW 11 60,616,074 (GRCm39) missense probably benign 0.00
R8831:Flii UTSW 11 60,616,074 (GRCm39) missense probably benign 0.00
R8839:Flii UTSW 11 60,609,433 (GRCm39) missense possibly damaging 0.82
R9380:Flii UTSW 11 60,606,297 (GRCm39) missense probably benign 0.23
R9448:Flii UTSW 11 60,606,393 (GRCm39) missense probably benign 0.04
R9598:Flii UTSW 11 60,617,991 (GRCm39) missense probably benign 0.01
RF011:Flii UTSW 11 60,607,069 (GRCm39) missense probably benign 0.04
X0025:Flii UTSW 11 60,612,534 (GRCm39) missense possibly damaging 0.62
Z1176:Flii UTSW 11 60,613,139 (GRCm39) missense possibly damaging 0.69
Posted On 2016-08-02