Mutagenetix > Incidental Mutation

Incidental Mutation 'R6901:Fli1'

538542

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

044995-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R6901 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32333500-32454157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32341221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 202 (N202I)

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: N235I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: N235I

Domain	Start	End	E-Value	Type
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
AA Change: N202I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138984
Gene: ENSMUSG00000016087
AA Change: N202I

Domain	Start	End	E-Value	Type
SAM_PNT	81	165	2.52e-38	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,197,220 (GRCm39)	S136T	probably benign	Het
Anxa10	T	C	8: 62,549,816 (GRCm39)	T10A	probably damaging	Het
Ap3b1	A	G	13: 94,554,650 (GRCm39)	E262G	probably benign	Het
Ap3b2	T	C	7: 81,134,660 (GRCm39)		probably null	Het
Arhgef40	A	G	14: 52,234,825 (GRCm39)	T1043A	probably damaging	Het
Arhgef5	T	A	6: 43,250,232 (GRCm39)	S328T	probably benign	Het
Arid4a	A	G	12: 71,113,911 (GRCm39)	K166R	probably damaging	Het
Cdh12	A	G	15: 21,583,872 (GRCm39)	I571V	probably benign	Het
Cdh4	G	A	2: 179,501,987 (GRCm39)	V316I	probably benign	Het
Cebpg	A	T	7: 34,750,202 (GRCm39)	H20Q	probably benign	Het
Ces4a	G	A	8: 105,873,330 (GRCm39)	V392I	probably benign	Het
CN725425	C	A	15: 91,124,966 (GRCm39)	P169T	possibly damaging	Het
Cyp2c54	A	G	19: 40,058,703 (GRCm39)	F243S	probably damaging	Het
Dkk2	T	A	3: 131,880,887 (GRCm39)		probably null	Het
Dync2h1	A	G	9: 7,131,855 (GRCm39)	Y1651H	probably damaging	Het
Dyrk1b	T	A	7: 27,884,542 (GRCm39)	L346Q	probably damaging	Het
Ephx4	T	C	5: 107,561,427 (GRCm39)	V85A	probably benign	Het
Etv6	A	G	6: 134,243,421 (GRCm39)	E392G	probably benign	Het
Gpc6	G	T	14: 118,188,629 (GRCm39)	R421L	possibly damaging	Het
Gse1	A	G	8: 120,956,561 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,089 (GRCm39)	E360G	probably benign	Het
Hnrnpab	T	C	11: 51,492,675 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,756,190 (GRCm39)	E136G	probably damaging	Het
Ift56	G	A	6: 38,378,079 (GRCm39)	R297H	possibly damaging	Het
Kcna3	C	T	3: 106,943,884 (GRCm39)	A49V	probably benign	Het
Krt42	C	T	11: 100,160,542 (GRCm39)	M52I	probably benign	Het
Lyrm4	A	T	13: 36,301,107 (GRCm39)	Y13N	probably damaging	Het
Map2	C	T	1: 66,460,932 (GRCm39)	S1576L	possibly damaging	Het
Map3k12	G	T	15: 102,409,065 (GRCm39)	P817T	possibly damaging	Het
Map3k12	G	T	15: 102,409,064 (GRCm39)	P817Q	possibly damaging	Het
Masp1	T	C	16: 23,332,584 (GRCm39)	K84E	probably damaging	Het
Mki67	A	T	7: 135,310,489 (GRCm39)		probably null	Het
Mrap	C	G	16: 90,546,193 (GRCm39)	S94C	probably damaging	Het
Mybpc2	C	A	7: 44,154,779 (GRCm39)	C986F	probably damaging	Het
Nbea	A	C	3: 55,926,836 (GRCm39)	M789R	probably damaging	Het
Or2ag1b	T	C	7: 106,288,396 (GRCm39)	I181V	probably benign	Het
Or6b2	G	T	1: 92,408,327 (GRCm39)	N5K	probably damaging	Het
Pde4a	A	G	9: 21,116,266 (GRCm39)	N475S	probably benign	Het
Pex7	C	T	10: 19,736,740 (GRCm39)	V297I	probably benign	Het
Pkd1l3	A	T	8: 110,341,246 (GRCm39)	H33L	unknown	Het
Prl8a6	A	T	13: 27,621,030 (GRCm39)	Y67N	possibly damaging	Het
Rcor1	A	T	12: 111,075,322 (GRCm39)	E383V	probably damaging	Het
Slc22a27	A	T	19: 7,903,944 (GRCm39)	S64R	probably damaging	Het
Snx7	G	A	3: 117,623,285 (GRCm39)	Q292*	probably null	Het
Tgm3	C	T	2: 129,883,890 (GRCm39)	T516M	possibly damaging	Het
Trim9	T	C	12: 70,393,413 (GRCm39)	E177G	probably damaging	Het
Ttc28	C	A	5: 111,424,891 (GRCm39)	T1541N	possibly damaging	Het
Ttc8	T	A	12: 98,927,735 (GRCm39)	L202H	probably damaging	Het
Ttll13	T	C	7: 79,899,930 (GRCm39)	Y90H	probably damaging	Het
Uba1y	T	G	Y: 825,496 (GRCm39)	I286S	probably benign	Het
Ubxn11	G	A	4: 133,853,575 (GRCm39)	A125T	probably damaging	Het
Vmn1r48	A	G	6: 90,013,550 (GRCm39)	Y92H	possibly damaging	Het
Vmn1r74	T	C	7: 11,581,368 (GRCm39)	F223L	probably benign	Het
Vwa5b1	G	A	4: 138,313,880 (GRCm39)	T696I	probably benign	Het
Zfp266	G	T	9: 20,410,895 (GRCm39)	Y427*	probably null	Het
Zfp362	C	T	4: 128,679,808 (GRCm39)	C273Y	probably damaging	Het
Zfp385c	T	C	11: 100,523,585 (GRCm39)	N123S	probably benign	Het
Zfp936	T	A	7: 42,839,467 (GRCm39)	H311Q	probably damaging	Het

Other mutations in Fli1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GTCCCAGAGATTCAACGTCC -3'
(R):5'- GGTGCTTAACAAGTTATTGCTGAAG -3'

Sequencing Primer
(F):5'- AGAGATTCAACGTCCTGACTG -3'
(R):5'- AGTAAATTTAACTTCTTCTGGCCGC -3'

Posted On

2018-11-06