Incidental Mutation 'R7676:Fli1'
ID 592458
Institutional Source Beutler Lab
Gene Symbol Fli1
Ensembl Gene ENSMUSG00000016087
Gene Name Friend leukemia integration 1
Synonyms EWSR2, Fli-1, SIC-1, Sic1
MMRRC Submission 045647-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R7676 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 32333500-32454157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32339326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 253 (N253Y)
Ref Sequence ENSEMBL: ENSMUSP00000016231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016231] [ENSMUST00000183767]
AlphaFold P26323
Predicted Effect probably benign
Transcript: ENSMUST00000016231
AA Change: N253Y

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: N253Y

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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
Acaca A G 11: 84,185,813 (GRCm39) D116G possibly damaging Het
Adam6a G A 12: 113,508,196 (GRCm39) G190S probably benign Het
Adnp G A 2: 168,025,367 (GRCm39) R643* probably null Het
Akap6 A G 12: 52,933,633 (GRCm39) D375G possibly damaging Het
Aldh1l2 G T 10: 83,343,975 (GRCm39) A480E probably benign Het
Ccdc175 T A 12: 72,148,821 (GRCm39) Q779L possibly damaging Het
Dnah7b T G 1: 46,273,324 (GRCm39) L2484* probably null Het
Dnajc21 T C 15: 10,462,430 (GRCm39) Y65C possibly damaging Het
Dnhd1 C A 7: 105,333,294 (GRCm39) N255K probably benign Het
Efhc1 G T 1: 21,037,593 (GRCm39) G257W probably damaging Het
Fars2 C A 13: 36,389,026 (GRCm39) L172I probably benign Het
Fat4 T C 3: 38,945,846 (GRCm39) Y1580H probably damaging Het
Foxd3 G T 4: 99,545,151 (GRCm39) C97F probably damaging Het
Gem C A 4: 11,711,170 (GRCm39) D120E possibly damaging Het
Ighv10-3 A G 12: 114,487,299 (GRCm39) C41R probably damaging Het
Katnip A G 7: 125,449,549 (GRCm39) D897G probably benign Het
Kcnab3 A G 11: 69,217,553 (GRCm39) S16G probably benign Het
Keg1 T G 19: 12,693,409 (GRCm39) V154G probably benign Het
Lrrc45 G A 11: 120,611,148 (GRCm39) R602H probably damaging Het
Ltbp1 A G 17: 75,598,292 (GRCm39) D591G possibly damaging Het
Mmp10 T A 9: 7,503,550 (GRCm39) V140D probably damaging Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Nckipsd T C 9: 108,692,153 (GRCm39) F525L probably damaging Het
Or10ak7 A G 4: 118,791,347 (GRCm39) S233P probably damaging Het
Or10j7 T A 1: 173,011,120 (GRCm39) K294* probably null Het
Or6c6c G T 10: 129,541,155 (GRCm39) S136I possibly damaging Het
P2ry12 T A 3: 59,125,178 (GRCm39) M166L possibly damaging Het
Palm3 T C 8: 84,756,074 (GRCm39) S529P possibly damaging Het
Pdilt A T 7: 119,094,220 (GRCm39) Y344N probably damaging Het
Pip4k2b A T 11: 97,611,188 (GRCm39) N309K probably benign Het
Pkd1l1 C T 11: 8,912,708 (GRCm39) V166I Het
Plxdc2 C T 2: 16,716,894 (GRCm39) S377L probably benign Het
Rc3h2 A T 2: 37,295,344 (GRCm39) V224E possibly damaging Het
Stk32c T A 7: 138,685,220 (GRCm39) D428V possibly damaging Het
Ttn T C 2: 76,644,951 (GRCm39) D12968G probably damaging Het
Tulp2 G T 7: 45,170,451 (GRCm39) V457F possibly damaging Het
Vcan A T 13: 89,839,908 (GRCm39) S1879T probably damaging Het
Vmn1r51 T C 6: 90,106,437 (GRCm39) Y118H probably benign Het
Zfat A C 15: 68,096,693 (GRCm39) V40G possibly damaging 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
IGL02889:Fli1 APN 9 32,376,992 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTTGCTGCTTAATTCCCAGATAC -3'
(R):5'- TAACTCTTCTGCCCCGAGAC -3'

Sequencing Primer
(F):5'- ACTAGAGTTGCCTCTTGGGATACAC -3'
(R):5'- AGACCAGTGCCAGCGTAG -3'
Posted On 2019-11-12