Incidental Mutation 'IGL01951:Fli1'
ID181051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fli1
Ensembl Gene ENSMUSG00000016087
Gene NameFriend leukemia integration 1
SynonymsSIC-1, EWSR2, Sic1, Fli-1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.631) question?
Stock #IGL01951
Quality Score
Status
Chromosome9
Chromosomal Location32422204-32542861 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32461364 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 126 (F126Y)
Ref Sequence ENSEMBL: ENSMUSP00000138984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016231] [ENSMUST00000183767]
Predicted Effect probably benign
Transcript: ENSMUST00000016231
AA Change: F159Y

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: F159Y

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: F126Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138984
Gene: ENSMUSG00000016087
AA Change: F126Y

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,235,668 I152T probably damaging Het
A2m C T 6: 121,667,190 T949I possibly damaging Het
Begain T A 12: 109,033,645 Y605F probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin2 A G 1: 51,289,411 E9G possibly damaging Het
Cdh16 A G 8: 104,617,691 V72A probably damaging Het
Dgkd T C 1: 87,916,916 L268P probably damaging Het
Eps8 T A 6: 137,537,671 Y28F possibly damaging Het
Erap1 T C 13: 74,675,295 I816T probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21957 A T 7: 125,219,832 noncoding transcript Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm9833 G A 3: 10,089,058 V296M probably damaging Het
Hectd1 T A 12: 51,794,497 R618* probably null Het
Homez T C 14: 54,858,176 E25G probably damaging Het
Ifngr1 C A 10: 19,609,454 N400K possibly damaging Het
Lin7a G A 10: 107,412,025 V186I possibly damaging Het
Lpcat2 G T 8: 92,918,047 S448I probably damaging Het
Lrp10 C A 14: 54,468,662 Y436* probably null Het
Myo1f A G 17: 33,598,017 H707R possibly damaging Het
Neurl4 A G 11: 69,909,623 N1147D probably damaging Het
Olfr1272 G T 2: 90,282,007 D189E probably damaging Het
Olfr1414 T C 1: 92,511,131 D299G probably null Het
Pak6 T C 2: 118,693,260 S299P probably benign Het
Panx2 A G 15: 89,068,767 D487G probably damaging Het
Sbspon T C 1: 15,858,934 N211S probably benign Het
Sgsm1 T A 5: 113,286,767 probably benign Het
Slc38a4 T C 15: 97,019,763 Y27C probably benign Het
Sorbs1 A G 19: 40,318,016 probably benign Het
Ssh1 A T 5: 113,966,247 Y35N possibly damaging Het
Stx2 A T 5: 128,992,265 F127L probably damaging Het
Synm A T 7: 67,739,137 I325N probably damaging Het
Szt2 A G 4: 118,376,493 probably benign Het
Tbc1d23 A G 16: 57,186,685 probably benign Het
Tmem50a T C 4: 134,898,428 probably benign Het
Tpx2 T G 2: 152,884,176 L354V probably benign Het
Trafd1 G A 5: 121,374,031 R399C possibly damaging Het
Trem3 C T 17: 48,249,875 R125W probably damaging Het
Ubp1 T A 9: 113,951,618 Y92* probably null Het
Wnk1 T A 6: 119,963,485 T62S probably damaging Het
Zbtb6 T C 2: 37,429,331 E195G probably benign Het
Zc3h15 A G 2: 83,661,485 D306G probably damaging Het
Other mutations in Fli1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Fli1 APN 9 32423940 missense probably benign 0.31
IGL01329:Fli1 APN 9 32424101 missense probably damaging 1.00
IGL01925:Fli1 APN 9 32465831 missense probably damaging 1.00
IGL01963:Fli1 APN 9 32424207 nonsense probably null
IGL02889:Fli1 APN 9 32465696 missense probably damaging 1.00
R0026:Fli1 UTSW 9 32476584 missense probably damaging 1.00
R0243:Fli1 UTSW 9 32423981 missense probably benign 0.00
R0279:Fli1 UTSW 9 32461427 missense probably damaging 1.00
R0418:Fli1 UTSW 9 32452129 splice site probably benign
R0967:Fli1 UTSW 9 32461449 missense probably benign
R1228:Fli1 UTSW 9 32423843 missense probably damaging 1.00
R1557:Fli1 UTSW 9 32461244 splice site probably benign
R1875:Fli1 UTSW 9 32423913 missense probably benign 0.03
R3401:Fli1 UTSW 9 32461274 missense probably damaging 1.00
R3898:Fli1 UTSW 9 32476722 missense possibly damaging 0.88
R4051:Fli1 UTSW 9 32452162 missense probably benign 0.03
R6440:Fli1 UTSW 9 32423901 missense probably benign 0.07
R6901:Fli1 UTSW 9 32429925 missense probably benign 0.14
R7061:Fli1 UTSW 9 32424222 missense probably damaging 0.98
R7231:Fli1 UTSW 9 32424188 missense probably damaging 1.00
R7676:Fli1 UTSW 9 32428030 missense probably benign 0.11
Posted On2014-05-07