Incidental Mutation 'IGL03029:Fus'
| ID |
408346 |
| 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 # |
IGL03029
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127565276-127581204 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 127584712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033056]
[ENSMUST00000077609]
[ENSMUST00000079045]
[ENSMUST00000106251]
[ENSMUST00000121616]
|
| AlphaFold |
P56959 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033056
|
| SMART Domains |
Protein: ENSMUSP00000033056
Gene: ENSMUSG00000030793
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
4 |
87 |
3.64e-28 |
SMART |
|
low complexity region
|
94 |
107 |
N/A |
INTRINSIC |
|
Pfam:CARD
|
110 |
193 |
1.4e-23 |
PFAM |
|
| 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 |
unknown
Transcript: ENSMUST00000079045
AA Change: K73E
|
| SMART Domains |
Protein: ENSMUSP00000078054
Gene: ENSMUSG00000030795
AA Change: K73E
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000181457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172755
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
T |
A |
9: 106,312,314 (GRCm39) |
D213V |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,933,195 (GRCm39) |
L229P |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,669,304 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
C |
T |
15: 83,206,851 (GRCm39) |
E246K |
probably damaging |
Het |
| Cadps |
G |
T |
14: 12,376,675 (GRCm38) |
T1274K |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,768,451 (GRCm39) |
T89A |
probably benign |
Het |
| Cylc1 |
A |
C |
X: 110,156,944 (GRCm39) |
|
probably benign |
Het |
| Dach2 |
T |
A |
X: 112,724,833 (GRCm39) |
L492* |
probably null |
Het |
| Dlc1 |
T |
C |
8: 37,038,416 (GRCm39) |
|
probably null |
Het |
| Fanci |
T |
C |
7: 79,093,747 (GRCm39) |
V1033A |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,036,740 (GRCm39) |
I3464T |
possibly damaging |
Het |
| Garin5b |
G |
T |
7: 4,760,839 (GRCm39) |
N624K |
possibly damaging |
Het |
| Hectd3 |
G |
T |
4: 116,854,162 (GRCm39) |
E271* |
probably null |
Het |
| Herc2 |
T |
C |
7: 55,818,715 (GRCm39) |
L2802P |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,715,314 (GRCm39) |
R407C |
probably damaging |
Het |
| Josd2 |
T |
C |
7: 44,120,601 (GRCm39) |
S71P |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,928,313 (GRCm39) |
T1152A |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,762,469 (GRCm39) |
V1229I |
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,212,592 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
T |
A |
10: 78,447,792 (GRCm39) |
I228F |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,798,535 (GRCm39) |
I476F |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,457,899 (GRCm39) |
Y91H |
probably damaging |
Het |
| Pik3r3 |
T |
G |
4: 116,156,998 (GRCm39) |
V393G |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,295,588 (GRCm39) |
|
probably null |
Het |
| Prx |
C |
T |
7: 27,207,486 (GRCm39) |
R48* |
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,631,652 (GRCm39) |
S222P |
possibly damaging |
Het |
| Rev3l |
T |
A |
10: 39,704,482 (GRCm39) |
I302N |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,967 (GRCm39) |
F331L |
probably damaging |
Het |
| Shisa4 |
G |
T |
1: 135,300,914 (GRCm39) |
Q119K |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,108,839 (GRCm39) |
E346V |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,686,816 (GRCm39) |
E61V |
probably damaging |
Het |
| Slc9a7 |
T |
A |
X: 20,157,608 (GRCm39) |
M106L |
probably benign |
Het |
| Srek1 |
A |
G |
13: 103,900,468 (GRCm39) |
|
probably benign |
Het |
| Strc |
G |
A |
2: 121,194,525 (GRCm39) |
L1788F |
possibly damaging |
Het |
| Styk1 |
T |
C |
6: 131,277,523 (GRCm39) |
S284G |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,909,625 (GRCm39) |
T158S |
probably benign |
Het |
| Vangl1 |
C |
T |
3: 102,091,400 (GRCm39) |
V229M |
probably damaging |
Het |
| Vsig1 |
A |
G |
X: 139,827,261 (GRCm39) |
T137A |
possibly 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 |
|
IGL02951:Fus
|
APN |
7 |
127,581,009 (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 |
2016-08-02 |
Incidental Mutation