Incidental Mutation 'R5167:Fubp1'
| ID |
397342 |
| 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 |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
151916059-151942463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151926989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 372
(L372P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106121]
[ENSMUST00000166984]
[ENSMUST00000196062]
[ENSMUST00000196429]
[ENSMUST00000196695]
[ENSMUST00000196739]
[ENSMUST00000200452]
[ENSMUST00000198227]
[ENSMUST00000199876]
[ENSMUST00000200524]
[ENSMUST00000199202]
|
| AlphaFold |
Q91WJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106121
AA Change: L371P
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034
AA Change: L371P
| 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 |
probably benign
Transcript: ENSMUST00000166984
AA Change: L371P
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034
AA Change: L371P
| 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: ENSMUST00000196429
|
| SMART Domains |
Protein: ENSMUSP00000143478
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
1 |
69 |
1.1e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196695
AA Change: L372P
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034
AA Change: L372P
| 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: ENSMUST00000196739
AA Change: L372P
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034
AA Change: L372P
| 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 |
noncoding transcript
Transcript: ENSMUST00000197141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200452
AA Change: L371P
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034
AA Change: L371P
| 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: ENSMUST00000198227
AA Change: L371P
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143370
Gene: ENSMUSG00000028034
AA Change: L371P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199876
AA Change: L372P
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
AA Change: L372P
| 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: ENSMUST00000200524
AA Change: L372P
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034
AA Change: L372P
| 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 |
noncoding transcript
Transcript: ENSMUST00000198539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200056
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199202
|
| SMART Domains |
Protein: ENSMUSP00000143204
Gene: ENSMUSG00000028034
| 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 |
probably benign
Transcript: ENSMUST00000199918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198405
|
| Meta Mutation Damage Score |
0.1479 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
| Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
| Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
| Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
| Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
| Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
| Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
| Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
| Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
| Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly 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 |
|
|
R5035:Fubp1
|
UTSW |
3 |
151,920,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
PCR Primer
(F):5'- CCCAGTGCATGTGAACTTTTATTTC -3'
(R):5'- TCCCCTTTCCCTAGAAGCAG -3'
Sequencing Primer
(F):5'- CAATTGTGCCTATGGAAGCC -3'
(R):5'- CTTTCCCTAGAAGCAGTTGAGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation