Incidental Mutation 'R2186:Fus'
| ID |
237767 |
| 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 |
040188-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2186 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127565276-127581204 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 127584706 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: E71K
|
| SMART Domains |
Protein: ENSMUSP00000078054
Gene: ENSMUSG00000030795
AA Change: E71K
| 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: ENSMUST00000172755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181457
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,340 (GRCm39) |
N29S |
probably damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,965,737 (GRCm39) |
V92A |
possibly damaging |
Het |
| Asgr1 |
G |
A |
11: 69,947,075 (GRCm39) |
R66Q |
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,200,780 (GRCm39) |
Q796L |
probably damaging |
Het |
| Camk4 |
A |
C |
18: 33,315,394 (GRCm39) |
D307A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,938,468 (GRCm39) |
Y725C |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,679,876 (GRCm39) |
Q1119L |
probably damaging |
Het |
| Cep85l |
G |
A |
10: 53,224,714 (GRCm39) |
P292S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,462,576 (GRCm39) |
|
probably null |
Het |
| Cilk1 |
C |
T |
9: 78,038,769 (GRCm39) |
T6M |
probably benign |
Het |
| Cts8 |
C |
A |
13: 61,399,545 (GRCm39) |
C138F |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,246,894 (GRCm39) |
E54* |
probably null |
Het |
| Dnaja1 |
T |
A |
4: 40,732,853 (GRCm39) |
D367E |
probably benign |
Het |
| Duoxa2 |
T |
C |
2: 122,129,655 (GRCm39) |
I45T |
probably damaging |
Het |
| EU599041 |
C |
T |
7: 42,875,333 (GRCm39) |
|
noncoding transcript |
Het |
| Exoc5 |
T |
C |
14: 49,252,936 (GRCm39) |
M561V |
probably benign |
Het |
| Fam184a |
T |
C |
10: 53,514,290 (GRCm39) |
I296V |
probably damaging |
Het |
| Fbxl18 |
C |
T |
5: 142,864,516 (GRCm39) |
V686M |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,318 (GRCm39) |
S2088P |
probably damaging |
Het |
| Gpr183 |
T |
A |
14: 122,191,727 (GRCm39) |
I265L |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,347,183 (GRCm39) |
L2013V |
probably benign |
Het |
| Iqca1 |
T |
C |
1: 90,009,066 (GRCm39) |
K430R |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,759,524 (GRCm39) |
G82E |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,500 (GRCm39) |
C20R |
probably damaging |
Het |
| Kmt2c |
C |
A |
5: 25,492,110 (GRCm39) |
C852F |
probably damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,466 (GRCm39) |
K1199* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,211,643 (GRCm39) |
Y421C |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,375,914 (GRCm39) |
L96P |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,945,145 (GRCm39) |
F29S |
possibly damaging |
Het |
| Mlh1 |
T |
C |
9: 111,087,634 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
T |
C |
12: 78,866,145 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,599,228 (GRCm39) |
T867A |
unknown |
Het |
| Sdk1 |
T |
A |
5: 142,032,047 (GRCm39) |
S1041T |
probably benign |
Het |
| Serpinb2 |
A |
G |
1: 107,451,694 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,387,030 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,046,792 (GRCm39) |
S251P |
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,708 (GRCm39) |
Y392C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,758,220 (GRCm39) |
C338S |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,824,061 (GRCm39) |
|
probably null |
Het |
| Vnn1 |
A |
T |
10: 23,773,299 (GRCm39) |
I109L |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,528 (GRCm39) |
V1312A |
probably benign |
Het |
| Zbed6 |
A |
G |
1: 133,585,817 (GRCm39) |
S507P |
probably damaging |
Het |
| Zfp28 |
A |
G |
7: 6,397,497 (GRCm39) |
H644R |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,671,287 (GRCm39) |
V262A |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,807,962 (GRCm39) |
M1694K |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGACCTATCTATGTGCTGTGTG -3'
(R):5'- GCTCATGGGCAGTCATATGTAAG -3'
Sequencing Primer
(F):5'- TACACATTTATGCACATACATGCC -3'
(R):5'- GGGCAGTCATATGTAAGCAAATTAAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation