Incidental Mutation 'IGL02889:Fli1'
ID 363113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fli1
Ensembl Gene ENSMUSG00000016087
Gene Name Friend leukemia integration 1
Synonyms EWSR2, Fli-1, SIC-1, Sic1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # IGL02889
Quality Score
Status
Chromosome 9
Chromosomal Location 32333500-32454157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32376992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 92 (I92T)
Ref Sequence ENSEMBL: ENSMUSP00000138984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016231] [ENSMUST00000183767]
AlphaFold P26323
Predicted Effect probably benign
Transcript: ENSMUST00000016231
AA Change: I125T

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: I125T

DomainStartEndE-ValueType
SAM_PNT 114 198 2.52e-38 SMART
ETS 280 365 1.22e-57 SMART
low complexity region 402 414 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183767
AA Change: I92T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138984
Gene: ENSMUSG00000016087
AA Change: I92T

DomainStartEndE-ValueType
SAM_PNT 81 165 2.52e-38 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for most knock-out allele exhibit abnormal hematopoietic and immune systems. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 C T 10: 77,149,375 (GRCm39) V371I probably benign Het
Amdhd2 A G 17: 24,376,761 (GRCm39) L308P probably damaging Het
Antxr2 G T 5: 98,125,509 (GRCm39) H249Q probably benign Het
Arg1 A T 10: 24,791,653 (GRCm39) M276K probably damaging Het
Bloc1s6 T C 2: 122,584,604 (GRCm39) Y60H probably damaging Het
Btnl9 A T 11: 49,069,604 (GRCm39) V225E probably damaging Het
Col1a1 T C 11: 94,842,335 (GRCm39) Y1418H unknown Het
Ct45a C A X: 55,592,551 (GRCm39) K19N probably damaging Het
Dhx57 A T 17: 80,554,581 (GRCm39) I1162K possibly damaging Het
Dmgdh T C 13: 93,852,185 (GRCm39) probably null Het
Ear10 A G 14: 44,160,726 (GRCm39) F34L probably damaging Het
Fpgs G A 2: 32,575,891 (GRCm39) probably benign Het
Glp1r T A 17: 31,150,118 (GRCm39) probably benign Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Ifitm3 C T 7: 140,589,792 (GRCm39) R87Q probably damaging Het
Ints3 G T 3: 90,300,143 (GRCm39) H925N probably damaging Het
Itgb4 T A 11: 115,879,731 (GRCm39) C628S probably damaging Het
Itprid1 A T 6: 55,878,443 (GRCm39) D402V possibly damaging Het
Kcnh3 A T 15: 99,124,991 (GRCm39) E147V probably null Het
Krtap19-4 T C 16: 88,681,944 (GRCm39) Y4C unknown Het
Lrp2 A T 2: 69,382,794 (GRCm39) S30R possibly damaging Het
Or11g27 A G 14: 50,770,970 (GRCm39) I34V probably benign Het
Or8g2b A G 9: 39,751,533 (GRCm39) M268V probably benign Het
Prima1 A G 12: 103,163,575 (GRCm39) V132A probably benign Het
Psme1 A G 14: 55,817,383 (GRCm39) probably benign Het
Rab11fip3 C A 17: 26,286,653 (GRCm39) R500L possibly damaging Het
Rnf40 C A 7: 127,190,601 (GRCm39) S255* probably null Het
Sebox T C 11: 78,395,156 (GRCm39) V166A probably benign Het
Spata24 C A 18: 35,789,805 (GRCm39) R194L probably benign Het
Spata31h1 C T 10: 82,119,654 (GRCm39) S482N probably damaging Het
Tbx4 T A 11: 85,790,621 (GRCm39) Y154* probably null Het
Trim24 G A 6: 37,934,696 (GRCm39) E768K probably benign Het
Ttn A G 2: 76,562,304 (GRCm39) V28847A possibly damaging Het
Utp6 T A 11: 79,839,896 (GRCm39) Q264L possibly damaging Het
Vim A G 2: 13,585,491 (GRCm39) R424G probably damaging Het
Vmn1r216 A C 13: 23,283,649 (GRCm39) T111P probably damaging Het
Wnt11 G A 7: 98,499,566 (GRCm39) A244T probably damaging Het
Zbtb26 A C 2: 37,326,261 (GRCm39) N247K probably benign Het
Zfp629 T G 7: 127,209,203 (GRCm39) probably benign Het
Other mutations in Fli1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Fli1 APN 9 32,335,236 (GRCm39) missense probably benign 0.31
IGL01329:Fli1 APN 9 32,335,397 (GRCm39) missense probably damaging 1.00
IGL01925:Fli1 APN 9 32,377,127 (GRCm39) missense probably damaging 1.00
IGL01951:Fli1 APN 9 32,372,660 (GRCm39) missense probably damaging 0.99
IGL01963:Fli1 APN 9 32,335,503 (GRCm39) nonsense probably null
R0026:Fli1 UTSW 9 32,387,880 (GRCm39) missense probably damaging 1.00
R0243:Fli1 UTSW 9 32,335,277 (GRCm39) missense probably benign 0.00
R0279:Fli1 UTSW 9 32,372,723 (GRCm39) missense probably damaging 1.00
R0418:Fli1 UTSW 9 32,363,425 (GRCm39) splice site probably benign
R0967:Fli1 UTSW 9 32,372,745 (GRCm39) missense probably benign
R1228:Fli1 UTSW 9 32,335,139 (GRCm39) missense probably damaging 1.00
R1557:Fli1 UTSW 9 32,372,540 (GRCm39) splice site probably benign
R1875:Fli1 UTSW 9 32,335,209 (GRCm39) missense probably benign 0.03
R3401:Fli1 UTSW 9 32,372,570 (GRCm39) missense probably damaging 1.00
R3898:Fli1 UTSW 9 32,388,018 (GRCm39) missense possibly damaging 0.88
R4051:Fli1 UTSW 9 32,363,458 (GRCm39) missense probably benign 0.03
R6440:Fli1 UTSW 9 32,335,197 (GRCm39) missense probably benign 0.07
R6901:Fli1 UTSW 9 32,341,221 (GRCm39) missense probably benign 0.14
R7061:Fli1 UTSW 9 32,335,518 (GRCm39) missense probably damaging 0.98
R7231:Fli1 UTSW 9 32,335,484 (GRCm39) missense probably damaging 1.00
R7676:Fli1 UTSW 9 32,339,326 (GRCm39) missense probably benign 0.11
R9510:Fli1 UTSW 9 32,335,493 (GRCm39) missense probably damaging 1.00
R9638:Fli1 UTSW 9 32,388,020 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18