Incidental Mutation 'R0026:Fli1'
| ID |
15090 |
| 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 |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.780)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
32333500-32454157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32387880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 37
(Y37H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016231]
[ENSMUST00000183767]
|
| AlphaFold |
P26323 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016231
AA Change: Y70H
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000016231
Gene: ENSMUSG00000016087
AA Change: Y70H
| 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: Y37H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138984
Gene: ENSMUSG00000016087
AA Change: Y37H
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
81 |
165 |
2.52e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192646
|
| Meta Mutation Damage Score |
0.0938 |
| Coding Region Coverage |
- 1x: 78.7%
- 3x: 68.7%
- 10x: 42.4%
- 20x: 22.6%
|
| Validation Efficiency |
96% (75/78) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
| Asph |
A |
C |
4: 9,601,361 (GRCm39) |
S129A |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,840 (GRCm39) |
Y406H |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,101,831 (GRCm39) |
|
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,171,365 (GRCm39) |
D371G |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
| Dock5 |
C |
A |
14: 68,083,530 (GRCm39) |
E126D |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,779 (GRCm39) |
D1620V |
probably benign |
Het |
| Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
| Gm17521 |
G |
A |
X: 121,939,239 (GRCm39) |
S43L |
probably benign |
Het |
| Gnb3 |
A |
G |
6: 124,814,380 (GRCm39) |
V135A |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
| Ighv1-58 |
G |
A |
12: 115,275,907 (GRCm39) |
T77I |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
| Ntf3 |
T |
A |
6: 126,078,768 (GRCm39) |
N246I |
probably damaging |
Het |
| Pds5b |
G |
A |
5: 150,673,295 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
C |
T |
14: 20,581,836 (GRCm39) |
V60I |
probably benign |
Het |
| Prc1 |
T |
C |
7: 79,960,809 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
| Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
| Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
| Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,945,907 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,875,016 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,534 (GRCm39) |
T19186A |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
| Usp32 |
T |
C |
11: 84,922,900 (GRCm39) |
S673G |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,379,434 (GRCm39) |
Q513R |
probably damaging |
Het |
| Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
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 |
|
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 |
2012-12-12 |
Incidental Mutation