Incidental Mutation 'IGL01963:Fli1'
ID182466
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: 0.740) question?
Stock #IGL01963
Quality Score
Status
Chromosome9
Chromosomal Location32422204-32542861 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 32424207 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 310 (K310*)
Ref Sequence ENSEMBL: ENSMUSP00000016231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016231] [ENSMUST00000183767]
Predicted Effect probably null
Transcript: ENSMUST00000016231
AA Change: K310*
SMART Domains Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: K310*

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 benign
Transcript: ENSMUST00000183767
SMART Domains Protein: ENSMUSP00000138984
Gene: ENSMUSG00000016087

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 G130D probably damaging Het
Abca8b T A 11: 109,971,763 D392V probably damaging Het
Clptm1l T A 13: 73,617,569 probably benign Het
Creb3l1 G A 2: 91,993,333 T178I probably benign Het
Ctsd A G 7: 142,376,599 probably null Het
Dcstamp A T 15: 39,760,359 I401F possibly damaging Het
Dnah5 A G 15: 28,370,536 D2874G probably benign Het
Fgfr1op A T 17: 8,192,277 D354V probably damaging Het
Fndc4 C T 5: 31,295,212 probably null Het
Fuk A G 8: 110,893,402 F281S probably damaging Het
Gc G A 5: 89,422,122 probably benign Het
Krtap26-1 A G 16: 88,647,668 C22R probably damaging Het
Obscn C T 11: 59,020,541 G6422S probably benign Het
Olfr1444 T A 19: 12,862,382 F202L probably benign Het
Olfr418 T A 1: 173,270,352 M59K probably damaging Het
Olfr975 C A 9: 39,950,240 C177F probably damaging Het
Pgr C T 9: 8,922,668 P613L probably damaging Het
Pnpla8 C A 12: 44,296,033 A524E possibly damaging Het
Psma2 A T 13: 14,619,363 I105F probably damaging Het
Ptprg A G 14: 12,220,661 R458G probably damaging Het
Rbm44 A G 1: 91,163,108 I755V probably benign Het
Rev3l A G 10: 39,822,737 K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 probably benign Het
Sel1l3 A C 5: 53,200,338 V104G probably damaging Het
Sirpb1c T C 3: 15,838,773 N89S probably benign Het
Slc25a16 G A 10: 62,930,441 probably null Het
Sulf1 C T 1: 12,818,507 R339C probably damaging Het
Tedc2 C T 17: 24,217,952 A270T probably benign Het
Trem3 T C 17: 48,247,852 S2P possibly damaging Het
Vps37a G T 8: 40,540,730 Q255H probably damaging Het
Zfp352 C T 4: 90,224,154 A177V possibly 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
IGL01951:Fli1 APN 9 32461364 missense probably damaging 0.99
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
Posted On2014-05-07