Incidental Mutation 'R0746:Fus'
| ID |
70131 |
| 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 |
038927-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127565276-127581204 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 127584596 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: E34G
|
| SMART Domains |
Protein: ENSMUSP00000078054
Gene: ENSMUSG00000030795
AA Change: E34G
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
C |
17: 79,935,715 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,390,562 (GRCm39) |
M1V |
probably null |
Het |
| Adamts10 |
T |
A |
17: 33,768,521 (GRCm39) |
C866* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,718,675 (GRCm39) |
P4S |
probably benign |
Het |
| Arhgef37 |
A |
G |
18: 61,651,064 (GRCm39) |
|
probably null |
Het |
| Arid4b |
A |
G |
13: 14,317,623 (GRCm39) |
T169A |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,316 (GRCm39) |
I829K |
probably benign |
Het |
| Cabp7 |
A |
T |
11: 4,688,900 (GRCm39) |
I190N |
probably damaging |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,916,096 (GRCm39) |
F177S |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,308,090 (GRCm39) |
C1283S |
probably damaging |
Het |
| Cul1 |
T |
C |
6: 47,495,222 (GRCm39) |
|
probably null |
Het |
| F7 |
T |
G |
8: 13,084,740 (GRCm39) |
S255R |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,089,429 (GRCm39) |
I955N |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,315,451 (GRCm39) |
D1536E |
possibly damaging |
Het |
| Gpr146 |
C |
T |
5: 139,378,977 (GRCm39) |
R260W |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 34,544,647 (GRCm39) |
F73L |
possibly damaging |
Het |
| Ilf2 |
T |
A |
3: 90,390,114 (GRCm39) |
V142D |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,484 (GRCm39) |
D355G |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,548 (GRCm39) |
F254S |
probably damaging |
Het |
| Mrps10 |
A |
C |
17: 47,683,564 (GRCm39) |
R139S |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,064,257 (GRCm39) |
T71A |
probably benign |
Het |
| Myo1d |
A |
C |
11: 80,477,705 (GRCm39) |
Y893D |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,151,227 (GRCm39) |
E760G |
possibly damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,248 (GRCm39) |
D178E |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,232 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,268,331 (GRCm39) |
D3349V |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,864,637 (GRCm39) |
M551L |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,353,692 (GRCm39) |
Y2275H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,526,388 (GRCm39) |
T1193A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,559,394 (GRCm39) |
D815G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,181,470 (GRCm39) |
T18S |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,441,975 (GRCm39) |
H277R |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,173 (GRCm39) |
S377G |
probably benign |
Het |
| Snx2 |
T |
A |
18: 53,330,961 (GRCm39) |
I142K |
possibly damaging |
Het |
| Spata31d1a |
C |
A |
13: 59,850,077 (GRCm39) |
D684Y |
possibly damaging |
Het |
| Taar6 |
C |
A |
10: 23,861,258 (GRCm39) |
S96I |
probably benign |
Het |
| Thsd7b |
C |
A |
1: 130,116,268 (GRCm39) |
H1340Q |
probably benign |
Het |
| Tmem115 |
C |
T |
9: 107,415,198 (GRCm39) |
T329M |
probably benign |
Het |
| Tmem50b |
C |
T |
16: 91,378,578 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
T |
1: 175,620,539 (GRCm39) |
D316V |
possibly damaging |
Het |
| Yars1 |
C |
A |
4: 129,091,079 (GRCm39) |
S162R |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGCTTGTAATTGAACTCCGACC -3'
(R):5'- GGAACCCTTGGCAATTCTACCCAC -3'
Sequencing Primer
(F):5'- AATTGAACTCCGACCTATCTATGTGC -3'
(R):5'- CTTGCCAACTTTGAGCATAGGAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation