Incidental Mutation 'IGL02951:Fus'
ID |
366022 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fus
|
Ensembl Gene |
ENSMUSG00000030795 |
Gene Name |
fused in sarcoma |
Synonyms |
D930039C12Rik, translocated in liposarcoma, pigpen, hnRNP P2, Tls, D430004D17Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02951
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127565276-127581204 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 127581009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077609]
[ENSMUST00000079045]
[ENSMUST00000106251]
[ENSMUST00000121616]
|
AlphaFold |
P56959 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077609
|
SMART Domains |
Protein: ENSMUSP00000076801 Gene: ENSMUSG00000030795
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: ENSMUST00000079045
|
SMART Domains |
Protein: ENSMUSP00000078054 Gene: ENSMUSG00000030795
Domain | Start | End | E-Value | Type |
transmembrane domain
|
89 |
111 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106251
|
SMART Domains |
Protein: ENSMUSP00000101858 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 |
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: ENSMUST00000128851
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136289
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172755
|
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 |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
A |
10: 76,290,536 (GRCm39) |
|
probably benign |
Het |
Acot10 |
G |
A |
15: 20,665,868 (GRCm39) |
T291I |
probably benign |
Het |
Adam34l |
T |
G |
8: 44,080,125 (GRCm39) |
H33P |
possibly damaging |
Het |
Atp13a3 |
A |
G |
16: 30,157,439 (GRCm39) |
|
probably null |
Het |
Atp2a1 |
C |
T |
7: 126,049,399 (GRCm39) |
V548M |
possibly damaging |
Het |
Bsn |
G |
A |
9: 107,992,812 (GRCm39) |
S980L |
probably damaging |
Het |
Ccdc158 |
A |
G |
5: 92,797,865 (GRCm39) |
M425T |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,147,143 (GRCm39) |
L2733S |
probably damaging |
Het |
Chd3 |
C |
T |
11: 69,251,874 (GRCm39) |
|
probably null |
Het |
Cimap1d |
T |
C |
10: 79,475,811 (GRCm39) |
N251S |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,260,448 (GRCm39) |
|
probably benign |
Het |
Elfn2 |
T |
C |
15: 78,556,082 (GRCm39) |
K822E |
probably damaging |
Het |
Eps15l1 |
G |
A |
8: 73,112,240 (GRCm39) |
S764L |
probably benign |
Het |
Etl4 |
C |
A |
2: 20,806,348 (GRCm39) |
|
probably benign |
Het |
Faap24 |
C |
A |
7: 35,092,376 (GRCm39) |
K180N |
probably damaging |
Het |
Fhod1 |
G |
A |
8: 106,057,862 (GRCm39) |
R888W |
probably damaging |
Het |
Gm3453 |
T |
C |
14: 5,976,168 (GRCm38) |
E201G |
possibly damaging |
Het |
Gnpat |
G |
T |
8: 125,597,644 (GRCm39) |
D69Y |
probably benign |
Het |
Gpaa1 |
T |
A |
15: 76,217,019 (GRCm39) |
|
probably benign |
Het |
Gsta1 |
A |
T |
9: 78,149,819 (GRCm39) |
K211* |
probably null |
Het |
Lct |
G |
T |
1: 128,227,948 (GRCm39) |
Q1182K |
probably damaging |
Het |
Mroh1 |
T |
C |
15: 76,311,836 (GRCm39) |
L523P |
probably damaging |
Het |
Mrpl46 |
A |
G |
7: 78,425,200 (GRCm39) |
|
probably benign |
Het |
Mst1r |
G |
T |
9: 107,785,403 (GRCm39) |
V354F |
possibly damaging |
Het |
Myo15b |
A |
G |
11: 115,772,127 (GRCm39) |
D299G |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,171,516 (GRCm39) |
V506I |
possibly damaging |
Het |
Nadk |
A |
C |
4: 155,671,933 (GRCm39) |
K271Q |
probably benign |
Het |
Nbas |
A |
G |
12: 13,412,542 (GRCm39) |
R954G |
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,462,805 (GRCm39) |
|
probably null |
Het |
Nup88 |
T |
C |
11: 70,835,698 (GRCm39) |
D587G |
possibly damaging |
Het |
Oas1a |
A |
T |
5: 121,043,727 (GRCm39) |
F135Y |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,885,339 (GRCm39) |
|
probably benign |
Het |
Or4k42 |
T |
G |
2: 111,320,465 (GRCm39) |
I13L |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,678,903 (GRCm39) |
T355I |
probably benign |
Het |
Pdgfd |
G |
T |
9: 6,288,494 (GRCm39) |
L43F |
probably damaging |
Het |
Pou5f2 |
T |
C |
13: 78,173,237 (GRCm39) |
S60P |
probably benign |
Het |
Prp2 |
A |
G |
6: 132,576,788 (GRCm39) |
N25S |
unknown |
Het |
Ptprq |
A |
T |
10: 107,503,321 (GRCm39) |
F779Y |
probably benign |
Het |
Rims2 |
C |
T |
15: 39,398,334 (GRCm39) |
R1078C |
probably damaging |
Het |
Rnf38 |
G |
T |
4: 44,129,619 (GRCm39) |
S425* |
probably null |
Het |
Rps21 |
T |
A |
2: 179,899,840 (GRCm39) |
I59N |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,324,751 (GRCm39) |
F1359Y |
probably damaging |
Het |
Slc35b2 |
A |
G |
17: 45,875,694 (GRCm39) |
E67G |
probably damaging |
Het |
Slc37a2 |
A |
G |
9: 37,166,611 (GRCm39) |
F15L |
probably benign |
Het |
Snapc4 |
A |
C |
2: 26,260,847 (GRCm39) |
N465K |
probably benign |
Het |
Spata31f1a |
C |
T |
4: 42,850,696 (GRCm39) |
E487K |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Taco1 |
A |
G |
11: 105,960,353 (GRCm39) |
N98S |
probably benign |
Het |
Tcea3 |
T |
C |
4: 135,985,299 (GRCm39) |
|
probably null |
Het |
Thada |
T |
C |
17: 84,751,456 (GRCm39) |
S507G |
probably benign |
Het |
Tmem132b |
T |
A |
5: 125,864,611 (GRCm39) |
C906S |
probably damaging |
Het |
Trpm2 |
A |
T |
10: 77,765,112 (GRCm39) |
I963N |
possibly damaging |
Het |
Usp10 |
A |
G |
8: 120,673,825 (GRCm39) |
T397A |
probably benign |
Het |
Usp3 |
G |
A |
9: 66,449,832 (GRCm39) |
R160* |
probably null |
Het |
Utp15 |
T |
C |
13: 98,394,460 (GRCm39) |
Y144C |
probably damaging |
Het |
Xpc |
G |
A |
6: 91,483,831 (GRCm39) |
R172W |
probably damaging |
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 |
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 |
|
R2200:Fus
|
UTSW |
7 |
127,576,400 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
|
Posted On |
2015-12-18 |