Incidental Mutation 'R4789:Flii'
ID 367338
Institutional Source Beutler Lab
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 # R4789 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 60604969-60618089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60605919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1185 (S1185P)
Ref Sequence ENSEMBL: ENSMUSP00000002889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002889] [ENSMUST00000052346] [ENSMUST00000108719]
AlphaFold Q9JJ28
Predicted Effect probably benign
Transcript: ENSMUST00000002889
AA Change: S1185P

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: S1185P

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
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Add2 G A 6: 86,095,752 (GRCm39) V475M probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
B9d1 A G 11: 61,397,186 (GRCm39) D27G probably benign Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Card9 T A 2: 26,247,632 (GRCm39) M218L probably damaging Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fbxl17 T G 17: 63,794,910 (GRCm39) I391L probably benign Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Kmt5b T C 19: 3,865,330 (GRCm39) V775A probably benign Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or56a3b T G 7: 104,771,520 (GRCm39) H285Q probably null Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Rbl1 A G 2: 157,019,275 (GRCm39) V490A probably benign Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign Het
Zkscan14 T A 5: 145,132,444 (GRCm39) K362N probably damaging 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
IGL03038:Flii APN 11 60,615,658 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- ATGCTCAGTGCTCCACATGTG -3'
(R):5'- TGCGGAGTACATGAAGCACAC -3'

Sequencing Primer
(F):5'- CCACATGTGGCTGGTGG -3'
(R):5'- ACGAGGCTCTTCAGGTGAGTAC -3'
Posted On 2015-12-29