Incidental Mutation 'IGL02532:Fubp3'
| ID |
297376 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fubp3
|
| Ensembl Gene |
ENSMUSG00000026843 |
| Gene Name |
far upstream element (FUSE) binding protein 3 |
| Synonyms |
A330051M14Rik, Marta2, FBP3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
IGL02532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
31462663-31507538 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 31490571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055244]
[ENSMUST00000113482]
[ENSMUST00000134553]
[ENSMUST00000154050]
[ENSMUST00000194386]
|
| AlphaFold |
Q3TIX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055244
|
| SMART Domains |
Protein: ENSMUSP00000053474
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
76 |
146 |
2.21e-18 |
SMART |
|
KH
|
161 |
233 |
1.29e-19 |
SMART |
|
KH
|
252 |
322 |
9.69e-15 |
SMART |
|
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
KH
|
353 |
426 |
3.48e-16 |
SMART |
|
low complexity region
|
490 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113482
|
| SMART Domains |
Protein: ENSMUSP00000109110
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
76 |
146 |
2.21e-18 |
SMART |
|
KH
|
161 |
233 |
1.29e-19 |
SMART |
|
KH
|
252 |
322 |
9.69e-15 |
SMART |
|
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
KH
|
353 |
426 |
3.48e-16 |
SMART |
|
low complexity region
|
490 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129903
|
| SMART Domains |
Protein: ENSMUSP00000117970
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KH
|
2 |
35 |
5e-16 |
BLAST |
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
KH
|
66 |
139 |
3.48e-16 |
SMART |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134553
|
| SMART Domains |
Protein: ENSMUSP00000141283
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
10 |
80 |
5.9e-17 |
SMART |
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
KH
|
111 |
184 |
2.2e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194386
|
| SMART Domains |
Protein: ENSMUSP00000142262
Gene: ENSMUSG00000026843
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
64 |
123 |
1.3e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
| Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
| Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
| Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
| Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
| Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
| Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
| Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
| Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
| Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
| Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
| Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
| Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
| Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
| Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
Het |
|
| Other mutations in Fubp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Fubp3
|
APN |
2 |
31,494,733 (GRCm39) |
splice site |
probably null |
|
|
IGL01583:Fubp3
|
APN |
2 |
31,501,755 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02709:Fubp3
|
APN |
2 |
31,485,343 (GRCm39) |
splice site |
probably benign |
|
|
R0140:Fubp3
|
UTSW |
2 |
31,498,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Fubp3
|
UTSW |
2 |
31,498,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1303:Fubp3
|
UTSW |
2 |
31,490,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Fubp3
|
UTSW |
2 |
31,488,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Fubp3
|
UTSW |
2 |
31,490,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Fubp3
|
UTSW |
2 |
31,501,747 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1973:Fubp3
|
UTSW |
2 |
31,493,298 (GRCm39) |
missense |
probably benign |
|
|
R2141:Fubp3
|
UTSW |
2 |
31,490,569 (GRCm39) |
unclassified |
probably benign |
|
|
R4708:Fubp3
|
UTSW |
2 |
31,498,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4780:Fubp3
|
UTSW |
2 |
31,473,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4836:Fubp3
|
UTSW |
2 |
31,498,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5468:Fubp3
|
UTSW |
2 |
31,493,247 (GRCm39) |
missense |
probably benign |
|
|
R5851:Fubp3
|
UTSW |
2 |
31,488,622 (GRCm39) |
missense |
probably benign |
|
|
R6778:Fubp3
|
UTSW |
2 |
31,488,685 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7074:Fubp3
|
UTSW |
2 |
31,485,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Fubp3
|
UTSW |
2 |
31,488,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7317:Fubp3
|
UTSW |
2 |
31,494,624 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8381:Fubp3
|
UTSW |
2 |
31,482,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8919:Fubp3
|
UTSW |
2 |
31,482,476 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9227:Fubp3
|
UTSW |
2 |
31,502,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9273:Fubp3
|
UTSW |
2 |
31,503,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0022:Fubp3
|
UTSW |
2 |
31,473,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation