Incidental Mutation 'IGL01951:Fli1'
| ID |
181051 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fli1
|
| Ensembl Gene |
ENSMUSG00000016087 |
| Gene Name |
Friend leukemia integration 1 |
| Synonyms |
EWSR2, Fli-1, SIC-1, Sic1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
IGL01951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
32333500-32454157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32372660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
P26323 |
| 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
| 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 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,092,865 (GRCm39) |
I152T |
probably damaging |
Het |
| A2m |
C |
T |
6: 121,644,149 (GRCm39) |
T949I |
possibly damaging |
Het |
| Begain |
T |
A |
12: 108,999,571 (GRCm39) |
Y605F |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,570 (GRCm39) |
E9G |
possibly damaging |
Het |
| Cdh16 |
A |
G |
8: 105,344,323 (GRCm39) |
V72A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,844,638 (GRCm39) |
L268P |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,514,669 (GRCm39) |
Y28F |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21957 |
A |
T |
7: 124,819,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,841,280 (GRCm39) |
R618* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,633 (GRCm39) |
E25G |
probably damaging |
Het |
| Ifngr1 |
C |
A |
10: 19,485,202 (GRCm39) |
N400K |
possibly damaging |
Het |
| Lin7a |
G |
A |
10: 107,247,886 (GRCm39) |
V186I |
possibly damaging |
Het |
| Lpcat2 |
G |
T |
8: 93,644,675 (GRCm39) |
S448I |
probably damaging |
Het |
| Lrp10 |
C |
A |
14: 54,706,119 (GRCm39) |
Y436* |
probably null |
Het |
| Myef2l |
G |
A |
3: 10,154,118 (GRCm39) |
V296M |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,816,991 (GRCm39) |
H707R |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,800,449 (GRCm39) |
N1147D |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,351 (GRCm39) |
D189E |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,438,853 (GRCm39) |
D299G |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,741 (GRCm39) |
S299P |
probably benign |
Het |
| Panx2 |
A |
G |
15: 88,952,970 (GRCm39) |
D487G |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,158 (GRCm39) |
N211S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,917,644 (GRCm39) |
Y27C |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,306,460 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
A |
T |
5: 114,104,308 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Stx2 |
A |
T |
5: 129,069,329 (GRCm39) |
F127L |
probably damaging |
Het |
| Synm |
A |
T |
7: 67,388,885 (GRCm39) |
I325N |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,690 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,007,048 (GRCm39) |
|
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,739 (GRCm39) |
|
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,726,096 (GRCm39) |
L354V |
probably benign |
Het |
| Trafd1 |
G |
A |
5: 121,512,094 (GRCm39) |
R399C |
possibly damaging |
Het |
| Trem3 |
C |
T |
17: 48,556,903 (GRCm39) |
R125W |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,780,686 (GRCm39) |
Y92* |
probably null |
Het |
| Wnk1 |
T |
A |
6: 119,940,446 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,343 (GRCm39) |
E195G |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,829 (GRCm39) |
D306G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation