Incidental Mutation 'R8219:Fubp1'
ID 636531
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 067659-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8219 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 151916059-151942463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151926103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 275 (V275D)
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: V275D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034
AA Change: V275D

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: V275D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034
AA Change: V275D

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 probably damaging
Transcript: ENSMUST00000196695
AA Change: V276D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034
AA Change: V276D

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: V276D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034
AA Change: V276D

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: V275D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143370
Gene: ENSMUSG00000028034
AA Change: V275D

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 benign
Transcript: ENSMUST00000198405
Predicted Effect probably damaging
Transcript: ENSMUST00000199202
AA Change: V296D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143204
Gene: ENSMUSG00000028034
AA Change: V296D

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 damaging
Transcript: ENSMUST00000199876
AA Change: V276D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
AA Change: V276D

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
Predicted Effect probably benign
Transcript: ENSMUST00000200056
Predicted Effect probably damaging
Transcript: ENSMUST00000200452
AA Change: V275D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034
AA Change: V275D

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: V276D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034
AA Change: V276D

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 100% (62/62)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,833,363 (GRCm39) S80T unknown Het
Acnat1 T A 4: 49,447,748 (GRCm39) I278F probably benign Het
Adgrf5 A T 17: 43,760,750 (GRCm39) Q815L probably benign Het
Aff1 T A 5: 103,994,199 (GRCm39) Y1022N probably damaging Het
Ahi1 A G 10: 20,950,335 (GRCm39) K1034E probably benign Het
Ano8 A T 8: 71,933,357 (GRCm39) L645Q unknown Het
Atg9b A G 5: 24,591,330 (GRCm39) L756P probably damaging Het
Atp2b2 A T 6: 113,770,811 (GRCm39) I411N probably damaging Het
Bmp6 T A 13: 38,529,963 (GRCm39) C19S unknown Het
Borcs5 A G 6: 134,621,313 (GRCm39) H27R probably benign Het
Cachd1 C A 4: 100,848,159 (GRCm39) D1091E probably benign Het
Ccdc186 T A 19: 56,781,777 (GRCm39) M801L probably benign Het
Clcn3 A T 8: 61,376,000 (GRCm39) M658K probably damaging Het
Col1a1 C T 11: 94,834,184 (GRCm39) R500C probably damaging Het
Cul4a T A 8: 13,196,540 (GRCm39) D731E possibly damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
E2f7 T A 10: 110,595,704 (GRCm39) V133E probably damaging Het
Fam161b T C 12: 84,393,648 (GRCm39) E575G probably benign Het
Gabrg1 T A 5: 70,931,643 (GRCm39) R367* probably null Het
Gm6902 G A 7: 22,973,143 (GRCm39) A128V probably benign Het
Gnptab A G 10: 88,269,654 (GRCm39) T786A probably benign Het
Golga2 A G 2: 32,196,492 (GRCm39) N981D probably damaging Het
Gsap A T 5: 21,456,113 (GRCm39) I437L probably benign Het
Gulp1 A G 1: 44,793,501 (GRCm39) probably null Het
Kcnn1 T C 8: 71,305,499 (GRCm39) Y237C probably damaging Het
Klhl28 A T 12: 64,998,431 (GRCm39) N354K probably benign Het
Lama3 T C 18: 12,572,417 (GRCm39) Y541H probably benign Het
Lamc1 A G 1: 153,123,073 (GRCm39) Y706H probably damaging Het
Lima1 G T 15: 99,678,671 (GRCm39) T590K probably damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Mrgprb8 G A 7: 48,038,649 (GRCm39) V107M possibly damaging Het
Mrpl3 T A 9: 104,934,271 (GRCm39) N139K possibly damaging Het
Nhsl3 T A 4: 129,141,946 (GRCm39) D65V possibly damaging Het
Nudt16 T A 9: 105,007,636 (GRCm39) N161I probably damaging Het
Obscn G A 11: 59,013,574 (GRCm39) S1091L probably benign Het
Oog4 T C 4: 143,166,508 (GRCm39) M99V probably benign Het
Or5b105 A C 19: 13,080,284 (GRCm39) L122R probably damaging Het
Or8c16 A C 9: 38,130,668 (GRCm39) D183A probably damaging Het
Osbpl6 A T 2: 76,386,247 (GRCm39) D303V probably damaging Het
Pcdhb21 T C 18: 37,647,708 (GRCm39) F279S probably damaging Het
Peg3 G A 7: 6,711,364 (GRCm39) T1286I probably benign Het
Phax A G 18: 56,708,754 (GRCm39) N106S probably damaging Het
Pkdrej A G 15: 85,705,493 (GRCm39) Y148H probably damaging Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptprn2 C A 12: 117,148,357 (GRCm39) Q706K probably benign Het
Rdh11 T G 12: 79,235,880 (GRCm39) K23Q probably benign Het
Rit2 T A 18: 31,108,547 (GRCm39) E146V probably damaging Het
Rnf141 T C 7: 110,436,472 (GRCm39) probably benign Het
Sars1 T A 3: 108,352,378 (GRCm39) E24V probably benign Het
Sh3tc2 A G 18: 62,144,932 (GRCm39) I1129V probably benign Het
Slc10a5 G T 3: 10,400,384 (GRCm39) P92Q probably benign Het
Slc24a5 A T 2: 124,927,575 (GRCm39) probably null Het
Slc5a8 A G 10: 88,757,561 (GRCm39) Y517C probably damaging Het
Slc6a5 A G 7: 49,561,911 (GRCm39) M148V probably benign Het
Sorl1 T C 9: 41,952,857 (GRCm39) probably null Het
Tgm4 A T 9: 122,874,117 (GRCm39) Y119F probably benign Het
Tgm6 A G 2: 129,993,200 (GRCm39) K562R probably benign Het
Tlr3 T C 8: 45,851,016 (GRCm39) E627G possibly damaging Het
Tmprss11f A G 5: 86,677,878 (GRCm39) L297P probably damaging Het
Tpbgl T C 7: 99,274,978 (GRCm39) H293R probably benign Het
Trank1 A C 9: 111,193,977 (GRCm39) K667T probably damaging Het
Trpm1 A T 7: 63,851,699 (GRCm39) Q139L probably benign Het
Ttf2 T G 3: 100,869,879 (GRCm39) K398T possibly damaging Het
Xpa A T 4: 46,183,150 (GRCm39) M213K probably benign Het
Zmym2 T A 14: 57,163,316 (GRCm39) S623T probably benign 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
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'- GGGCACTAGTGTTTTCCTGC -3'
(R):5'- GTTATCTGTGCTATCCTATCAGGTG -3'

Sequencing Primer
(F):5'- CCTGCTTTGAATTAAATGGACTTGGC -3'
(R):5'- CAGGTGTTGTTCCATCATCTAAAAC -3'
Posted On 2020-07-13