Incidental Mutation 'IGL01963:Fli1'
| ID |
182466 |
| 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 # |
IGL01963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
32333500-32454157 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 32335503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
P26323 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000016231
AA Change: K310*
|
| SMART Domains |
Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: K310*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138984
Gene: ENSMUSG00000016087
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
G |
A |
14: 4,350,856 (GRCm38) |
G130D |
probably damaging |
Het |
| Abca8b |
T |
A |
11: 109,862,589 (GRCm39) |
D392V |
probably damaging |
Het |
| Cep43 |
A |
T |
17: 8,411,109 (GRCm39) |
D354V |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,765,688 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
A |
2: 91,823,678 (GRCm39) |
T178I |
probably benign |
Het |
| Ctsd |
A |
G |
7: 141,930,336 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
T |
15: 39,623,755 (GRCm39) |
I401F |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,682 (GRCm39) |
D2874G |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,620,034 (GRCm39) |
F281S |
probably damaging |
Het |
| Fndc4 |
C |
T |
5: 31,452,556 (GRCm39) |
|
probably null |
Het |
| Gc |
G |
A |
5: 89,569,981 (GRCm39) |
|
probably benign |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,556 (GRCm39) |
C22R |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,911,367 (GRCm39) |
G6422S |
probably benign |
Het |
| Or10d5 |
C |
A |
9: 39,861,536 (GRCm39) |
C177F |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,097,919 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,746 (GRCm39) |
F202L |
probably benign |
Het |
| Pgr |
C |
T |
9: 8,922,669 (GRCm39) |
P613L |
probably damaging |
Het |
| Pnpla8 |
C |
A |
12: 44,342,816 (GRCm39) |
A524E |
possibly damaging |
Het |
| Psma2 |
A |
T |
13: 14,793,948 (GRCm39) |
I105F |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,220,661 (GRCm38) |
R458G |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,090,830 (GRCm39) |
I755V |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,698,733 (GRCm39) |
K1077E |
possibly damaging |
Het |
| Rps20 |
A |
C |
4: 3,834,494 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,357,680 (GRCm39) |
V104G |
probably damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,892,937 (GRCm39) |
N89S |
probably benign |
Het |
| Slc25a16 |
G |
A |
10: 62,766,220 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
C |
T |
1: 12,888,731 (GRCm39) |
R339C |
probably damaging |
Het |
| Tedc2 |
C |
T |
17: 24,436,926 (GRCm39) |
A270T |
probably benign |
Het |
| Trem3 |
T |
C |
17: 48,554,880 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vps37a |
G |
T |
8: 40,993,771 (GRCm39) |
Q255H |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,112,391 (GRCm39) |
A177V |
possibly 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 |
|
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