Incidental Mutation 'R7676:Fli1'
ID |
592458 |
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 |
045647-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.735)
|
Stock # |
R7676 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
32333500-32454157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32339326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 253
(N253Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016231
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016231]
[ENSMUST00000183767]
|
AlphaFold |
P26323 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016231
AA Change: N253Y
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000016231 Gene: ENSMUSG00000016087 AA Change: N253Y
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
Adam6a |
G |
A |
12: 113,508,196 (GRCm39) |
G190S |
probably benign |
Het |
Adnp |
G |
A |
2: 168,025,367 (GRCm39) |
R643* |
probably null |
Het |
Akap6 |
A |
G |
12: 52,933,633 (GRCm39) |
D375G |
possibly damaging |
Het |
Aldh1l2 |
G |
T |
10: 83,343,975 (GRCm39) |
A480E |
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,148,821 (GRCm39) |
Q779L |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,273,324 (GRCm39) |
L2484* |
probably null |
Het |
Dnajc21 |
T |
C |
15: 10,462,430 (GRCm39) |
Y65C |
possibly damaging |
Het |
Dnhd1 |
C |
A |
7: 105,333,294 (GRCm39) |
N255K |
probably benign |
Het |
Efhc1 |
G |
T |
1: 21,037,593 (GRCm39) |
G257W |
probably damaging |
Het |
Fars2 |
C |
A |
13: 36,389,026 (GRCm39) |
L172I |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,945,846 (GRCm39) |
Y1580H |
probably damaging |
Het |
Foxd3 |
G |
T |
4: 99,545,151 (GRCm39) |
C97F |
probably damaging |
Het |
Gem |
C |
A |
4: 11,711,170 (GRCm39) |
D120E |
possibly damaging |
Het |
Ighv10-3 |
A |
G |
12: 114,487,299 (GRCm39) |
C41R |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,449,549 (GRCm39) |
D897G |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,217,553 (GRCm39) |
S16G |
probably benign |
Het |
Keg1 |
T |
G |
19: 12,693,409 (GRCm39) |
V154G |
probably benign |
Het |
Lrrc45 |
G |
A |
11: 120,611,148 (GRCm39) |
R602H |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,598,292 (GRCm39) |
D591G |
possibly damaging |
Het |
Mmp10 |
T |
A |
9: 7,503,550 (GRCm39) |
V140D |
probably damaging |
Het |
Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
Nckipsd |
T |
C |
9: 108,692,153 (GRCm39) |
F525L |
probably damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,347 (GRCm39) |
S233P |
probably damaging |
Het |
Or10j7 |
T |
A |
1: 173,011,120 (GRCm39) |
K294* |
probably null |
Het |
Or6c6c |
G |
T |
10: 129,541,155 (GRCm39) |
S136I |
possibly damaging |
Het |
P2ry12 |
T |
A |
3: 59,125,178 (GRCm39) |
M166L |
possibly damaging |
Het |
Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
Pdilt |
A |
T |
7: 119,094,220 (GRCm39) |
Y344N |
probably damaging |
Het |
Pip4k2b |
A |
T |
11: 97,611,188 (GRCm39) |
N309K |
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,912,708 (GRCm39) |
V166I |
|
Het |
Plxdc2 |
C |
T |
2: 16,716,894 (GRCm39) |
S377L |
probably benign |
Het |
Rc3h2 |
A |
T |
2: 37,295,344 (GRCm39) |
V224E |
possibly damaging |
Het |
Stk32c |
T |
A |
7: 138,685,220 (GRCm39) |
D428V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,644,951 (GRCm39) |
D12968G |
probably damaging |
Het |
Tulp2 |
G |
T |
7: 45,170,451 (GRCm39) |
V457F |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,839,908 (GRCm39) |
S1879T |
probably damaging |
Het |
Vmn1r51 |
T |
C |
6: 90,106,437 (GRCm39) |
Y118H |
probably benign |
Het |
Zfat |
A |
C |
15: 68,096,693 (GRCm39) |
V40G |
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 |
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 |
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'- ACTTGCTGCTTAATTCCCAGATAC -3'
(R):5'- TAACTCTTCTGCCCCGAGAC -3'
Sequencing Primer
(F):5'- ACTAGAGTTGCCTCTTGGGATACAC -3'
(R):5'- AGACCAGTGCCAGCGTAG -3'
|
Posted On |
2019-11-12 |