Incidental Mutation 'R2200:Fus'
ID |
238608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fus
|
Ensembl Gene |
ENSMUSG00000030795 |
Gene Name |
fused in sarcoma |
Synonyms |
D930039C12Rik, translocated in liposarcoma, pigpen, hnRNP P2, Tls, D430004D17Rik |
MMRRC Submission |
040202-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2200 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
127565276-127581204 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127576400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 273
(N273K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077609]
[ENSMUST00000106251]
[ENSMUST00000121616]
|
AlphaFold |
P56959 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077609
AA Change: N273K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076801 Gene: ENSMUSG00000030795 AA Change: N273K
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
44 |
N/A |
INTRINSIC |
low complexity region
|
48 |
67 |
N/A |
INTRINSIC |
low complexity region
|
72 |
104 |
N/A |
INTRINSIC |
low complexity region
|
110 |
179 |
N/A |
INTRINSIC |
low complexity region
|
185 |
253 |
N/A |
INTRINSIC |
RRM
|
278 |
359 |
3.85e-16 |
SMART |
ZnF_RBZ
|
416 |
442 |
9e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106251
AA Change: N274K
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101858 Gene: ENSMUSG00000030795 AA Change: N274K
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
44 |
N/A |
INTRINSIC |
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
low complexity region
|
111 |
180 |
N/A |
INTRINSIC |
low complexity region
|
186 |
254 |
N/A |
INTRINSIC |
RRM
|
279 |
360 |
3.85e-16 |
SMART |
ZnF_RBZ
|
417 |
443 |
9e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121616
|
SMART Domains |
Protein: ENSMUSP00000112721 Gene: ENSMUSG00000030795
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
44 |
N/A |
INTRINSIC |
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
low complexity region
|
111 |
176 |
N/A |
INTRINSIC |
ZnF_RBZ
|
179 |
205 |
9e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123151
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128851
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136289
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174196
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205261
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155941
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141997
|
SMART Domains |
Protein: ENSMUSP00000134447 Gene: ENSMUSG00000030795
Domain | Start | End | E-Value | Type |
ZnF_RBZ
|
15 |
41 |
9e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174632
|
SMART Domains |
Protein: ENSMUSP00000133820 Gene: ENSMUSG00000030795
Domain | Start | End | E-Value | Type |
Pfam:RRM_1
|
6 |
56 |
6.6e-9 |
PFAM |
ZnF_RBZ
|
77 |
103 |
9e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired lymphocyte development, chromosomal instability, increased cellular radiation sensitivity, high neonatal mortality, and male sterility associated with lack of chromosomal pairing. [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 |
Acer1 |
T |
C |
17: 57,265,423 (GRCm39) |
I135M |
probably benign |
Het |
Ano7 |
A |
G |
1: 93,308,158 (GRCm39) |
E63G |
possibly damaging |
Het |
Asah1 |
A |
G |
8: 41,796,765 (GRCm39) |
|
probably null |
Het |
B3gat2 |
C |
T |
1: 23,801,873 (GRCm39) |
P53L |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,016,815 (GRCm39) |
M339L |
possibly damaging |
Het |
Bpifb9b |
C |
A |
2: 154,155,574 (GRCm39) |
Q358K |
probably benign |
Het |
Cbs |
T |
C |
17: 31,843,238 (GRCm39) |
D231G |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,825,673 (GRCm39) |
Y1144H |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,519,685 (GRCm39) |
I230L |
probably benign |
Het |
Clec2d |
A |
T |
6: 129,161,831 (GRCm39) |
T155S |
possibly damaging |
Het |
Cpxm1 |
G |
T |
2: 130,235,117 (GRCm39) |
F567L |
probably damaging |
Het |
Cyp4f16 |
G |
T |
17: 32,756,078 (GRCm39) |
A36S |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,993,235 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,791,676 (GRCm39) |
D1280G |
probably damaging |
Het |
Ergic1 |
C |
A |
17: 26,860,566 (GRCm39) |
A218D |
possibly damaging |
Het |
Eva1a |
A |
G |
6: 82,068,894 (GRCm39) |
R74G |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,637,628 (GRCm39) |
S224P |
probably damaging |
Het |
Ipo13 |
A |
C |
4: 117,762,100 (GRCm39) |
|
probably null |
Het |
Itgb3 |
T |
A |
11: 104,531,812 (GRCm39) |
|
probably null |
Het |
Lrif1 |
T |
A |
3: 106,641,874 (GRCm39) |
S63R |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 41,174,177 (GRCm39) |
N1547K |
probably benign |
Het |
Mme |
A |
T |
3: 63,287,713 (GRCm39) |
N738I |
possibly damaging |
Het |
Morc2a |
A |
G |
11: 3,633,919 (GRCm39) |
N677S |
probably benign |
Het |
Mrpl35 |
A |
C |
6: 71,794,723 (GRCm39) |
L82V |
probably benign |
Het |
Mybpc1 |
A |
T |
10: 88,391,557 (GRCm39) |
N313K |
probably damaging |
Het |
Podn |
T |
C |
4: 107,879,787 (GRCm39) |
D66G |
probably damaging |
Het |
Ptpru |
A |
T |
4: 131,548,124 (GRCm39) |
N52K |
probably damaging |
Het |
Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,619,358 (GRCm39) |
S485P |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,351 (GRCm39) |
D421E |
probably benign |
Het |
Rgs10 |
T |
C |
7: 127,990,761 (GRCm39) |
E109G |
probably damaging |
Het |
Samd8 |
C |
T |
14: 21,825,388 (GRCm39) |
P178S |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,318,404 (GRCm39) |
K387E |
probably damaging |
Het |
Sccpdh |
G |
T |
1: 179,498,171 (GRCm39) |
V72F |
possibly damaging |
Het |
Sec22a |
A |
T |
16: 35,134,527 (GRCm39) |
V285E |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,000,664 (GRCm39) |
S118P |
probably damaging |
Het |
Sun1 |
C |
A |
5: 139,216,974 (GRCm39) |
R338S |
probably benign |
Het |
Taf1c |
A |
G |
8: 120,325,417 (GRCm39) |
F815S |
probably benign |
Het |
Zcchc14 |
A |
T |
8: 122,332,167 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fus |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02505:Fus
|
APN |
7 |
127,580,679 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02622:Fus
|
APN |
7 |
127,584,794 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02951:Fus
|
APN |
7 |
127,581,009 (GRCm39) |
unclassified |
probably benign |
|
IGL03029:Fus
|
APN |
7 |
127,584,712 (GRCm39) |
unclassified |
probably benign |
|
R0588:Fus
|
UTSW |
7 |
127,584,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R0674:Fus
|
UTSW |
7 |
127,571,948 (GRCm39) |
unclassified |
probably benign |
|
R0686:Fus
|
UTSW |
7 |
127,571,935 (GRCm39) |
unclassified |
probably benign |
|
R0746:Fus
|
UTSW |
7 |
127,584,596 (GRCm39) |
unclassified |
probably benign |
|
R1562:Fus
|
UTSW |
7 |
127,579,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R1733:Fus
|
UTSW |
7 |
127,580,717 (GRCm39) |
missense |
probably benign |
0.01 |
R2186:Fus
|
UTSW |
7 |
127,584,706 (GRCm39) |
unclassified |
probably benign |
|
R4537:Fus
|
UTSW |
7 |
127,575,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R4981:Fus
|
UTSW |
7 |
127,566,727 (GRCm39) |
start gained |
probably benign |
|
R5206:Fus
|
UTSW |
7 |
127,568,969 (GRCm39) |
missense |
unknown |
|
R5283:Fus
|
UTSW |
7 |
127,584,719 (GRCm39) |
unclassified |
probably benign |
|
R5614:Fus
|
UTSW |
7 |
127,573,543 (GRCm39) |
unclassified |
probably benign |
|
R6182:Fus
|
UTSW |
7 |
127,576,465 (GRCm39) |
missense |
probably damaging |
0.97 |
R6239:Fus
|
UTSW |
7 |
127,580,606 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6939:Fus
|
UTSW |
7 |
127,571,741 (GRCm39) |
unclassified |
probably benign |
|
R7130:Fus
|
UTSW |
7 |
127,573,585 (GRCm39) |
missense |
unknown |
|
R7340:Fus
|
UTSW |
7 |
127,581,123 (GRCm39) |
splice site |
probably null |
|
R8293:Fus
|
UTSW |
7 |
127,571,749 (GRCm39) |
missense |
unknown |
|
R8440:Fus
|
UTSW |
7 |
127,568,998 (GRCm39) |
missense |
unknown |
|
R9154:Fus
|
UTSW |
7 |
127,580,440 (GRCm39) |
missense |
unknown |
|
X0061:Fus
|
UTSW |
7 |
127,584,605 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGTGTTTCAAGGACAGTAATGAG -3'
(R):5'- ACAACCATTGGTTTTGCTAGC -3'
Sequencing Primer
(F):5'- CTGGTAAGAATCCTGAGCATT -3'
(R):5'- CCTGTCTCTGCTGGGAATAAACAG -3'
|
Posted On |
2014-10-02 |