Incidental Mutation 'R9239:Fubp1'
ID 700627
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9239 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 151916059-151942463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151923486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 98 (E98G)
Ref Sequence ENSEMBL: ENSMUSP00000130145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106121] [ENSMUST00000166984] [ENSMUST00000196062] [ENSMUST00000196429] [ENSMUST00000196695] [ENSMUST00000196739] [ENSMUST00000198227] [ENSMUST00000199202] [ENSMUST00000199876] [ENSMUST00000200452] [ENSMUST00000200524]
AlphaFold Q91WJ8
Predicted Effect probably damaging
Transcript: ENSMUST00000106121
AA Change: E98G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034
AA Change: E98G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000166984
AA Change: E98G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034
AA Change: E98G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
KH 1 69 1.1e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000196695
AA Change: E99G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034
AA Change: E99G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000196739
AA Change: E99G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034
AA Change: E99G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000198227
AA Change: E98G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143370
Gene: ENSMUSG00000028034
AA Change: E98G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000199202
AA Change: E119G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143204
Gene: ENSMUSG00000028034
AA Change: E119G

DomainStartEndE-ValueType
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: ENSMUST00000199876
AA Change: E99G

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
AA Change: E99G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000200452
AA Change: E98G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034
AA Change: E98G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000200524
AA Change: E99G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034
AA Change: E99G

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 A G 2: 164,646,608 (GRCm39) probably null Het
Aldh1l2 A G 10: 83,342,496 (GRCm39) F438S probably damaging Het
Alk T A 17: 72,256,864 (GRCm39) N665I probably benign Het
Anxa4 T A 6: 86,734,812 (GRCm39) T59S probably benign Het
B3gnt8 ACCCC ACCC 7: 25,327,676 (GRCm39) probably null Het
Cabs1 G A 5: 88,127,385 (GRCm39) R12Q probably benign Het
Cep152 A G 2: 125,425,830 (GRCm39) V845A probably benign Het
Dipk1a T C 5: 108,059,572 (GRCm39) E127G possibly damaging Het
Dsg1a T A 18: 20,473,750 (GRCm39) V941E probably damaging Het
Fbxo11 G T 17: 88,316,522 (GRCm39) H284N Het
Fyco1 A G 9: 123,626,637 (GRCm39) I1358T probably damaging Het
Ginm1 T C 10: 7,649,825 (GRCm39) N156S possibly damaging Het
Gm3739 T C 14: 18,505,221 (GRCm39) Y101C probably damaging Het
Ide T C 19: 37,307,898 (GRCm39) N38S Het
Itgb4 T C 11: 115,898,130 (GRCm39) V1644A probably damaging Het
Itpka A G 2: 119,580,023 (GRCm39) D254G probably damaging Het
Kat7 T A 11: 95,197,020 (GRCm39) R6S probably benign Het
Klhl40 A T 9: 121,607,637 (GRCm39) T266S probably benign Het
Lratd1 A G 12: 14,200,185 (GRCm39) W181R probably damaging Het
Mmaa T C 8: 79,995,856 (GRCm39) D289G probably damaging Het
Muc5ac A T 7: 141,353,954 (GRCm39) D851V probably damaging Het
Or1e29 A G 11: 73,667,346 (GRCm39) V269A probably benign Het
Or52n4 G T 7: 104,293,746 (GRCm39) H278N probably damaging Het
Or6b3 T C 1: 92,439,454 (GRCm39) T99A probably benign Het
Pcdh17 T G 14: 84,770,649 (GRCm39) I1042M probably benign Het
Pipox A G 11: 77,774,765 (GRCm39) I106T probably benign Het
Ppcs C T 4: 119,276,235 (GRCm39) V290M possibly damaging Het
Rnasel T A 1: 153,630,097 (GRCm39) N204K probably damaging Het
Runx1 A G 16: 92,402,935 (GRCm39) Y336H probably damaging Het
Sell A G 1: 163,893,176 (GRCm39) I131V possibly damaging Het
Serpina3f A G 12: 104,184,710 (GRCm39) R285G possibly damaging Het
Slc25a2 A T 18: 37,771,169 (GRCm39) M120K possibly damaging Het
Slc47a1 A T 11: 61,250,344 (GRCm39) probably null Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Spats2l A G 1: 57,871,257 (GRCm39) probably benign Het
Spopfm1 T A 3: 94,173,871 (GRCm39) V289E probably benign Het
Taf1b T A 12: 24,606,015 (GRCm39) L431H probably damaging Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Het
Thsd7b G A 1: 130,087,453 (GRCm39) probably null Het
Tmtc4 A G 14: 123,165,078 (GRCm39) Y594H possibly damaging Het
Trim33 T C 3: 103,237,453 (GRCm39) F599L probably benign Het
Vcl A G 14: 21,072,092 (GRCm39) D819G probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r1 G T 3: 64,011,959 (GRCm39) V607L probably damaging Het
Other mutations in Fubp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGTGGCATTCGCTTTGACAG -3'
(R):5'- GAATGTTACCAGGTGCTATCTGTATC -3'

Sequencing Primer
(F):5'- CATTCGCTTTGACAGGTGTTCAG -3'
(R):5'- AGGTGCTATCTGTATCTTGCATCCAG -3'
Posted On 2022-02-07