Incidental Mutation 'IGL02622:Fus'
| ID |
300903 |
| 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 # |
IGL02622
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127565276-127581204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127584794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 100
(L100H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078054
(fasta)
|
| 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 |
probably damaging
Transcript: ENSMUST00000079045
AA Change: L100H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078054
Gene: ENSMUSG00000030795
AA Change: L100H
| 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 |
|
| 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 |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,101 (GRCm39) |
V32M |
possibly damaging |
Het |
| Abca1 |
T |
C |
4: 53,034,046 (GRCm39) |
D2228G |
probably damaging |
Het |
| Actr5 |
A |
G |
2: 158,480,728 (GRCm39) |
K582R |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,518,454 (GRCm39) |
D128G |
possibly damaging |
Het |
| Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,409,509 (GRCm39) |
H133R |
probably benign |
Het |
| Cops3 |
C |
T |
11: 59,723,864 (GRCm39) |
D98N |
probably benign |
Het |
| Crlf3 |
T |
C |
11: 79,950,150 (GRCm39) |
D160G |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,825,501 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
C |
A |
8: 62,395,470 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
A |
3: 159,221,147 (GRCm39) |
N159K |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,662,004 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
C |
4: 137,824,677 (GRCm39) |
|
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,001,437 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
T |
A |
9: 109,322,602 (GRCm39) |
M123L |
probably benign |
Het |
| Gm29247 |
A |
G |
1: 44,146,269 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,115,857 (GRCm39) |
T842A |
probably damaging |
Het |
| Inpp4a |
A |
T |
1: 37,418,115 (GRCm39) |
Q519L |
probably benign |
Het |
| Kcnip1 |
C |
A |
11: 33,593,290 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,855,975 (GRCm39) |
L2432H |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,022,857 (GRCm39) |
V622A |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,997,317 (GRCm39) |
T1712A |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,013,826 (GRCm39) |
T475A |
possibly damaging |
Het |
| Nr4a3 |
G |
A |
4: 48,051,649 (GRCm39) |
M134I |
probably benign |
Het |
| Or2a56 |
T |
G |
6: 42,932,663 (GRCm39) |
V77G |
probably damaging |
Het |
| Or52m1 |
T |
A |
7: 102,290,290 (GRCm39) |
L279Q |
probably damaging |
Het |
| Or5p60 |
T |
A |
7: 107,723,595 (GRCm39) |
I292F |
probably damaging |
Het |
| Paqr6 |
T |
G |
3: 88,273,085 (GRCm39) |
I52S |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,721 (GRCm39) |
L677Q |
probably benign |
Het |
| Phax |
C |
T |
18: 56,717,372 (GRCm39) |
R250* |
probably null |
Het |
| Pkn3 |
A |
G |
2: 29,973,158 (GRCm39) |
D356G |
probably benign |
Het |
| Pnpla2 |
T |
C |
7: 141,035,285 (GRCm39) |
L29P |
probably damaging |
Het |
| Rad18 |
G |
A |
6: 112,664,948 (GRCm39) |
T62I |
probably damaging |
Het |
| Riok3 |
C |
T |
18: 12,276,017 (GRCm39) |
R238C |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sccpdh |
G |
T |
1: 179,504,025 (GRCm39) |
G125W |
probably damaging |
Het |
| Skint11 |
T |
A |
4: 114,051,925 (GRCm39) |
L91H |
probably damaging |
Het |
| Slc25a45 |
A |
G |
19: 5,928,725 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
C |
T |
9: 102,954,128 (GRCm39) |
Q370* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,250,087 (GRCm39) |
S474P |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,350,719 (GRCm39) |
T53K |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,595,588 (GRCm39) |
T1298A |
possibly damaging |
Het |
| Tmem161a |
C |
T |
8: 70,633,887 (GRCm39) |
Q183* |
probably null |
Het |
| Trim26 |
C |
A |
17: 37,161,797 (GRCm39) |
A72E |
probably damaging |
Het |
| Trmt11 |
A |
T |
10: 30,435,169 (GRCm39) |
I330K |
probably benign |
Het |
| Tspan1 |
A |
G |
4: 116,021,052 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,194,561 (GRCm39) |
C4286* |
probably null |
Het |
| Unc13a |
T |
C |
8: 72,105,158 (GRCm39) |
|
probably null |
Het |
| Vmn1r20 |
T |
A |
6: 57,409,583 (GRCm39) |
F303Y |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,190,979 (GRCm39) |
|
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,661,699 (GRCm39) |
D585N |
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,993,001 (GRCm39) |
L791F |
probably damaging |
Het |
| Zfp319 |
C |
A |
8: 96,055,589 (GRCm39) |
V205F |
probably damaging |
Het |
| Zscan25 |
A |
T |
5: 145,227,512 (GRCm39) |
H392L |
probably damaging |
Het |
| Zswim6 |
A |
T |
13: 107,884,786 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation