Incidental Mutation 'R5614:Fus'
ID |
438140 |
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 |
043275-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127565276-127581204 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 127573543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077609]
[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: 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: ENSMUST00000123151
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128851
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136289
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174196
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205261
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137464
|
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (62/62) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
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 |
|
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 |
|
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'- TGTGTGATAAGCTCAAAGGTCAG -3'
(R):5'- AGTTAGCACACATCTGGCAGC -3'
Sequencing Primer
(F):5'- TCAAAGGTCAGACAAGGGTGGTC -3'
(R):5'- CTTCTGGAGGTGGCTACAGAC -3'
|
Posted On |
2016-10-26 |