Incidental Mutation 'R1228:Fli1'
| ID |
175035 |
| 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 |
039297-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R1228 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
32333500-32454157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32335139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 431
(Y431C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016231]
[ENSMUST00000183767]
|
| AlphaFold |
P26323 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016231
AA Change: Y431C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: Y431C
| 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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.7%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
A |
17: 35,364,309 (GRCm39) |
S863R |
probably damaging |
Het |
| Ccdc181 |
C |
T |
1: 164,113,960 (GRCm39) |
R455* |
probably null |
Het |
| Clvs2 |
T |
C |
10: 33,498,600 (GRCm39) |
N110S |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,521,310 (GRCm39) |
I806F |
probably benign |
Het |
| Entrep1 |
A |
G |
19: 23,956,829 (GRCm39) |
S355P |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Klhl25 |
C |
T |
7: 75,515,868 (GRCm39) |
A258V |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,012,303 (GRCm39) |
S7G |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,856,909 (GRCm39) |
I787N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,258,926 (GRCm39) |
F1558S |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,976,404 (GRCm39) |
N721K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,201,087 (GRCm39) |
|
probably null |
Het |
| Rabac1 |
T |
C |
7: 24,671,523 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,511,837 (GRCm39) |
D572G |
probably null |
Het |
| Rpia |
T |
C |
6: 70,768,880 (GRCm39) |
N85S |
probably benign |
Het |
| Sh3gl3 |
A |
G |
7: 81,824,723 (GRCm39) |
M1V |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,711,649 (GRCm39) |
N956S |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,600,528 (GRCm39) |
L47P |
probably damaging |
Het |
| Tcea2 |
G |
T |
2: 181,326,238 (GRCm39) |
V81F |
probably benign |
Het |
| Ttbk1 |
A |
T |
17: 46,787,638 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
G |
A |
7: 86,450,242 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGTGGACTGGCTCATGGAATG -3'
(R):5'- CAAAATGACGGACCCTGATGAGGTG -3'
Sequencing Primer
(F):5'- AGGTTCTATCCAAAAGAAAGAACATC -3'
(R):5'- CATTATGACCAAAGTGCATGGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation