Incidental Mutation 'R6872:Fubp1'
ID 536193
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 044969-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 151916059-151942463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151931783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 37 (Q37L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106121] [ENSMUST00000166984] [ENSMUST00000196429] [ENSMUST00000196695] [ENSMUST00000196739] [ENSMUST00000198227] [ENSMUST00000199876] [ENSMUST00000200452] [ENSMUST00000200524]
AlphaFold Q91WJ8
Predicted Effect unknown
Transcript: ENSMUST00000106121
AA Change: Q543L
SMART Domains Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034
AA Change: Q543L

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 unknown
Transcript: ENSMUST00000166984
AA Change: Q543L
SMART Domains Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034
AA Change: Q543L

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: ENSMUST00000196429
SMART Domains Protein: ENSMUSP00000143478
Gene: ENSMUSG00000028034

DomainStartEndE-ValueType
KH 1 69 1.1e-13 SMART
Predicted Effect unknown
Transcript: ENSMUST00000196695
AA Change: Q544L
SMART Domains Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034
AA Change: Q544L

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 unknown
Transcript: ENSMUST00000196739
AA Change: Q544L
SMART Domains Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034
AA Change: Q544L

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 benign
Transcript: ENSMUST00000198227
SMART Domains Protein: ENSMUSP00000143370
Gene: ENSMUSG00000028034

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 unknown
Transcript: ENSMUST00000198405
AA Change: R41W
Predicted Effect unknown
Transcript: ENSMUST00000199876
AA Change: Q544L
SMART Domains Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
AA Change: Q544L

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 benign
Transcript: ENSMUST00000199918
AA Change: Q45L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000200056
AA Change: Q37L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect unknown
Transcript: ENSMUST00000200452
AA Change: Q543L
SMART Domains Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034
AA Change: Q543L

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 unknown
Transcript: ENSMUST00000200524
AA Change: Q544L
SMART Domains Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034
AA Change: Q544L

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
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Ap3d1 G A 10: 80,550,156 (GRCm39) R692* probably null Het
Aqp2 C T 15: 99,481,885 (GRCm39) H260Y probably benign Het
Btbd2 C A 10: 80,480,166 (GRCm39) R383L probably damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Col12a1 A T 9: 79,584,516 (GRCm39) N1357K probably damaging Het
Cpa5 A T 6: 30,614,053 (GRCm39) Q65L probably benign Het
Ddo A C 10: 40,513,414 (GRCm39) M119L possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Eng T A 2: 32,563,287 (GRCm39) I281N probably damaging Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Gabra2 G T 5: 71,251,882 (GRCm39) P22T probably damaging Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Gsdmc T C 15: 63,650,556 (GRCm39) D275G possibly damaging Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Lmod1 G T 1: 135,292,879 (GRCm39) R578L probably damaging Het
Mindy2 A G 9: 70,524,044 (GRCm39) probably null Het
Neb G T 2: 52,183,657 (GRCm39) Q1004K probably damaging Het
Nkx2-9 T G 12: 56,658,674 (GRCm39) N180T probably benign Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Nol4l T C 2: 153,325,737 (GRCm39) E116G probably damaging Het
Or1af1 A T 2: 37,109,989 (GRCm39) M163L possibly damaging Het
Or5ac19 A G 16: 59,089,961 (GRCm39) L23P probably benign Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Rab44 A G 17: 29,358,784 (GRCm39) E324G probably benign Het
Ramp3 T C 11: 6,624,768 (GRCm39) C21R possibly damaging Het
Rpap1 A C 2: 119,605,850 (GRCm39) M345R probably damaging Het
Serpina3k A C 12: 104,310,519 (GRCm39) K350Q probably benign Het
St13 C T 15: 81,250,547 (GRCm39) probably null Het
Stard9 A T 2: 120,544,549 (GRCm39) K4497* probably null Het
Tbx19 A T 1: 164,975,202 (GRCm39) probably null Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Trim69 A G 2: 121,998,391 (GRCm39) E121G probably damaging Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zbtb7a A G 10: 80,983,905 (GRCm39) N449S possibly damaging Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp462 G A 4: 55,012,326 (GRCm39) A1431T probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign Het
Zfp706 T C 15: 37,002,190 (GRCm39) T46A possibly 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
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'- TCGCTATTGGTAACTTTTGAGCC -3'
(R):5'- TCAAAACCTTAGGCCCGAGG -3'

Sequencing Primer
(F):5'- GAGCCTATTTGTCAGGAATCACC -3'
(R):5'- TTAGGCCCGAGGATCTAACCTAATG -3'
Posted On 2018-10-18