Incidental Mutation 'R5035:Fubp1'
| ID |
452851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fubp1
|
| Ensembl Gene |
ENSMUSG00000028034 |
| Gene Name |
far upstream element (FUSE) binding protein 1 |
| Synonyms |
9530027K12Rik, Fubp4, Fubp, FBP |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
151916059-151942463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151920488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 76
(T76A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029669]
[ENSMUST00000106121]
[ENSMUST00000144950]
[ENSMUST00000166984]
[ENSMUST00000196062]
[ENSMUST00000199202]
[ENSMUST00000200524]
[ENSMUST00000197941]
[ENSMUST00000196739]
[ENSMUST00000199876]
[ENSMUST00000200452]
[ENSMUST00000196695]
[ENSMUST00000198227]
|
| AlphaFold |
Q91WJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029669
|
| SMART Domains |
Protein: ENSMUSP00000029669
Gene: ENSMUSG00000028035
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
3 |
60 |
4.9e-31 |
SMART |
|
low complexity region
|
68 |
84 |
N/A |
INTRINSIC |
|
Pfam:DnaJ_C
|
160 |
319 |
1.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106121
|
| SMART Domains |
Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
94 |
164 |
1.09e-17 |
SMART |
|
KH
|
179 |
251 |
2.33e-17 |
SMART |
|
KH
|
269 |
339 |
1.32e-16 |
SMART |
|
low complexity region
|
344 |
366 |
N/A |
INTRINSIC |
|
KH
|
370 |
443 |
1.19e-14 |
SMART |
|
low complexity region
|
513 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
571 |
599 |
1.3e-7 |
PFAM |
|
Pfam:DUF1897
|
600 |
624 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144950
|
| SMART Domains |
Protein: ENSMUSP00000114356
Gene: ENSMUSG00000028035
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
3 |
60 |
4.9e-31 |
SMART |
|
low complexity region
|
68 |
84 |
N/A |
INTRINSIC |
|
Pfam:CTDII
|
249 |
329 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166984
|
| SMART Domains |
Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
94 |
164 |
1.09e-17 |
SMART |
|
KH
|
179 |
251 |
2.33e-17 |
SMART |
|
KH
|
269 |
339 |
1.32e-16 |
SMART |
|
low complexity region
|
344 |
366 |
N/A |
INTRINSIC |
|
KH
|
370 |
443 |
1.19e-14 |
SMART |
|
low complexity region
|
513 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
570 |
598 |
2e-7 |
PFAM |
|
Pfam:DUF1897
|
599 |
631 |
9.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196062
|
| SMART Domains |
Protein: ENSMUSP00000143718
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
5e-10 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199202
AA Change: T76A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143204
Gene: ENSMUSG00000028034
AA Change: T76A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
1e-8 |
PDB |
|
KH
|
115 |
185 |
6.9e-20 |
SMART |
|
KH
|
200 |
272 |
1.5e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200524
|
| SMART Domains |
Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
95 |
165 |
6.9e-20 |
SMART |
|
KH
|
180 |
252 |
1.5e-19 |
SMART |
|
KH
|
270 |
340 |
8.1e-19 |
SMART |
|
low complexity region
|
345 |
367 |
N/A |
INTRINSIC |
|
KH
|
371 |
444 |
7.2e-17 |
SMART |
|
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
557 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
571 |
599 |
1.5e-4 |
PFAM |
|
Pfam:DUF1897
|
600 |
632 |
7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196739
|
| SMART Domains |
Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
2e-8 |
PDB |
|
KH
|
95 |
165 |
1.09e-17 |
SMART |
|
KH
|
180 |
252 |
2.33e-17 |
SMART |
|
KH
|
270 |
340 |
1.32e-16 |
SMART |
|
low complexity region
|
345 |
367 |
N/A |
INTRINSIC |
|
KH
|
371 |
444 |
1.19e-14 |
SMART |
|
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
557 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
568 |
596 |
1e-7 |
PFAM |
|
Pfam:DUF1897
|
597 |
629 |
4.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199876
|
| SMART Domains |
Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
95 |
165 |
1.09e-17 |
SMART |
|
KH
|
180 |
252 |
2.33e-17 |
SMART |
|
KH
|
270 |
340 |
1.32e-16 |
SMART |
|
low complexity region
|
345 |
367 |
N/A |
INTRINSIC |
|
KH
|
371 |
444 |
1.19e-14 |
SMART |
|
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
557 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
572 |
600 |
1.5e-7 |
PFAM |
|
Pfam:DUF1897
|
601 |
625 |
1.5e-9 |
PFAM |
|
transmembrane domain
|
654 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200452
|
| SMART Domains |
Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
94 |
164 |
1.09e-17 |
SMART |
|
KH
|
179 |
251 |
2.33e-17 |
SMART |
|
KH
|
269 |
339 |
1.32e-16 |
SMART |
|
low complexity region
|
344 |
366 |
N/A |
INTRINSIC |
|
KH
|
370 |
443 |
1.19e-14 |
SMART |
|
low complexity region
|
513 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
570 |
598 |
2e-7 |
PFAM |
|
Pfam:DUF1897
|
599 |
631 |
9.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196695
|
| SMART Domains |
Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
95 |
165 |
7e-20 |
SMART |
|
KH
|
180 |
252 |
1.5e-19 |
SMART |
|
KH
|
270 |
340 |
8.2e-19 |
SMART |
|
low complexity region
|
345 |
367 |
N/A |
INTRINSIC |
|
KH
|
371 |
444 |
7.3e-17 |
SMART |
|
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
557 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
572 |
600 |
1.1e-4 |
PFAM |
|
Pfam:DUF1897
|
601 |
625 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198227
|
| SMART Domains |
Protein: ENSMUSP00000143370
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
2e-8 |
PDB |
|
KH
|
94 |
164 |
6.9e-20 |
SMART |
|
KH
|
179 |
251 |
1.5e-19 |
SMART |
|
KH
|
269 |
339 |
8.1e-19 |
SMART |
|
low complexity region
|
344 |
366 |
N/A |
INTRINSIC |
|
KH
|
370 |
443 |
7.2e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3'-5' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit pre- and perinatal lethality, cerebral hyperplasia, pale liver, hypoplastic lungs, spleen, thymus and bone marrow, cardiac hypertrophy, placental distress, small size, and anemia associated with variable, multilineage hematopoietic deficiency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
| Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
probably damaging |
Het |
|
| Other mutations in Fubp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Fubp1
|
APN |
3 |
151,927,871 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01328:Fubp1
|
APN |
3 |
151,925,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Fubp1
|
APN |
3 |
151,921,261 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02886:Fubp1
|
APN |
3 |
151,926,392 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0166:Fubp1
|
UTSW |
3 |
151,925,841 (GRCm39) |
nonsense |
probably null |
|
|
R0268:Fubp1
|
UTSW |
3 |
151,925,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0344:Fubp1
|
UTSW |
3 |
151,925,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0759:Fubp1
|
UTSW |
3 |
151,916,274 (GRCm39) |
small insertion |
probably benign |
|
|
R1159:Fubp1
|
UTSW |
3 |
151,921,229 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1194:Fubp1
|
UTSW |
3 |
151,937,606 (GRCm39) |
frame shift |
probably null |
|
|
R1687:Fubp1
|
UTSW |
3 |
151,933,838 (GRCm39) |
unclassified |
probably benign |
|
|
R1818:Fubp1
|
UTSW |
3 |
151,927,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3880:Fubp1
|
UTSW |
3 |
151,926,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4247:Fubp1
|
UTSW |
3 |
151,937,573 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4564:Fubp1
|
UTSW |
3 |
151,928,573 (GRCm39) |
nonsense |
probably null |
|
|
R4776:Fubp1
|
UTSW |
3 |
151,927,705 (GRCm39) |
splice site |
probably null |
|
|
R4793:Fubp1
|
UTSW |
3 |
151,928,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4825:Fubp1
|
UTSW |
3 |
151,923,527 (GRCm39) |
splice site |
probably null |
|
|
R5167:Fubp1
|
UTSW |
3 |
151,926,989 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5819:Fubp1
|
UTSW |
3 |
151,926,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5892:Fubp1
|
UTSW |
3 |
151,923,951 (GRCm39) |
intron |
probably benign |
|
|
R6254:Fubp1
|
UTSW |
3 |
151,938,045 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6814:Fubp1
|
UTSW |
3 |
151,931,783 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6872:Fubp1
|
UTSW |
3 |
151,931,783 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7132:Fubp1
|
UTSW |
3 |
151,937,661 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7612:Fubp1
|
UTSW |
3 |
151,923,652 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7876:Fubp1
|
UTSW |
3 |
151,937,928 (GRCm39) |
missense |
unknown |
|
|
R7903:Fubp1
|
UTSW |
3 |
151,920,498 (GRCm39) |
nonsense |
probably null |
|
|
R7969:Fubp1
|
UTSW |
3 |
151,927,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8201:Fubp1
|
UTSW |
3 |
151,927,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Fubp1
|
UTSW |
3 |
151,926,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Fubp1
|
UTSW |
3 |
151,926,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8434:Fubp1
|
UTSW |
3 |
151,926,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Fubp1
|
UTSW |
3 |
151,937,669 (GRCm39) |
splice site |
probably benign |
|
|
R9186:Fubp1
|
UTSW |
3 |
151,926,153 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9217:Fubp1
|
UTSW |
3 |
151,923,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9239:Fubp1
|
UTSW |
3 |
151,923,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9725:Fubp1
|
UTSW |
3 |
151,927,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fubp1
|
UTSW |
3 |
151,927,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-01-20 |
Incidental Mutation