Incidental Mutation 'IGL01329:Fli1'
ID74424
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: 0.688) question?
Stock #IGL01329
Quality Score
Status
Chromosome9
Chromosomal Location32422204-32542861 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32424101 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 345 (K345I)
Ref Sequence ENSEMBL: ENSMUSP00000016231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016231] [ENSMUST00000183767]
Predicted Effect probably damaging
Transcript: ENSMUST00000016231
AA Change: K345I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: K345I

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A G 19: 23,652,736 probably benign Het
Abcb4 T C 5: 8,894,166 probably null Het
Ankib1 A T 5: 3,734,194 probably benign Het
Birc3 T C 9: 7,860,732 Y195C probably damaging Het
Cand2 T C 6: 115,782,794 I142T probably benign Het
Cd163l1 T A 7: 140,224,639 probably null Het
Cdh15 T C 8: 122,865,323 probably benign Het
Ceacam5 G A 7: 17,745,609 G217D probably damaging Het
Cfap54 T A 10: 93,081,523 H25L unknown Het
Col22a1 A G 15: 71,907,040 V266A probably benign Het
D3Ertd751e A G 3: 41,748,697 D69G probably benign Het
Dnah3 T C 7: 120,022,941 I1518V probably damaging Het
Entpd8 A G 2: 25,084,346 K381R probably benign Het
G6pd2 T C 5: 61,809,938 V352A probably damaging Het
Gbp11 C T 5: 105,327,616 probably null Het
Gm11992 A G 11: 9,068,383 *292W probably null Het
Ifnar2 T A 16: 91,391,711 probably benign Het
Impg1 T C 9: 80,322,829 K661R probably benign Het
Inf2 G T 12: 112,611,856 E651* probably null Het
Ints1 A G 5: 139,767,503 probably benign Het
Iqcf4 T C 9: 106,570,633 K26E probably benign Het
Map4k3 A G 17: 80,644,184 V289A probably benign Het
Mis18bp1 T C 12: 65,158,441 K319R possibly damaging Het
Nubpl T C 12: 52,305,855 V291A probably damaging Het
Olfr1085 T C 2: 86,658,207 N84D probably benign Het
Olfr1305 A G 2: 111,872,950 F302L probably benign Het
Olfr726 C T 14: 50,083,997 R228H probably benign Het
Olfr983 A G 9: 40,092,028 S313P possibly damaging Het
Otof A G 5: 30,441,379 S29P probably benign Het
Pcca A G 14: 122,690,133 D436G possibly damaging Het
Rasef T A 4: 73,727,645 T496S probably damaging Het
Saa2 A G 7: 46,753,472 D49G probably benign Het
Scn2a A G 2: 65,717,508 I1015V probably benign Het
Sim2 T C 16: 94,106,260 Y154H possibly damaging Het
Spag17 A G 3: 100,095,549 H1863R probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Svil A G 18: 5,064,501 E1111G probably benign Het
Trabd2b T C 4: 114,409,125 V112A probably damaging Het
Vmn1r205 T C 13: 22,592,103 I276M probably benign Het
Vps13d A T 4: 145,156,206 I939N possibly damaging Het
Zc3h11a T C 1: 133,625,862 M515V probably benign Het
Zfp457 T C 13: 67,294,266 T82A possibly damaging Het
Other mutations in Fli1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Fli1 APN 9 32423940 missense probably benign 0.31
IGL01925:Fli1 APN 9 32465831 missense probably damaging 1.00
IGL01951:Fli1 APN 9 32461364 missense probably damaging 0.99
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
Posted On2013-10-07