Incidental Mutation 'R7132:Fubp1'
ID 552734
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 045217-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7132 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 151916059-151942463 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 151937661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046045] [ENSMUST00000106121] [ENSMUST00000166984] [ENSMUST00000196695] [ENSMUST00000196739] [ENSMUST00000199470] [ENSMUST00000199876] [ENSMUST00000200452] [ENSMUST00000200524]
AlphaFold Q91WJ8
Predicted Effect probably benign
Transcript: ENSMUST00000046045
SMART Domains Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103

DomainStartEndE-ValueType
coiled coil region 40 92 N/A INTRINSIC
coiled coil region 176 358 N/A INTRINSIC
coiled coil region 391 419 N/A INTRINSIC
low complexity region 452 470 N/A INTRINSIC
low complexity region 487 493 N/A INTRINSIC
IG 519 603 4.82e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106121
SMART Domains Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034

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 null
Transcript: ENSMUST00000166984
SMART Domains Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034

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 null
Transcript: ENSMUST00000196695
SMART Domains Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034

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 null
Transcript: ENSMUST00000196739
SMART Domains Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034

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 null
Transcript: ENSMUST00000198405
Predicted Effect probably benign
Transcript: ENSMUST00000199470
SMART Domains Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103

DomainStartEndE-ValueType
internal_repeat_1 14 35 5.77e-6 PROSPERO
low complexity region 36 53 N/A INTRINSIC
internal_repeat_1 86 106 5.77e-6 PROSPERO
low complexity region 108 131 N/A INTRINSIC
low complexity region 176 210 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
coiled coil region 321 349 N/A INTRINSIC
coiled coil region 372 423 N/A INTRINSIC
IG 449 533 2e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000199876
AA Change: V642E
SMART Domains Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
AA Change: V642E

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 null
Transcript: ENSMUST00000199918
Predicted Effect probably null
Transcript: ENSMUST00000200056
Predicted Effect probably benign
Transcript: ENSMUST00000200452
SMART Domains Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034

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 null
Transcript: ENSMUST00000200524
SMART Domains Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 C T 10: 69,825,744 (GRCm39) A1471V Het
Ankrd12 C A 17: 66,290,242 (GRCm39) M1730I probably benign Het
Ap2a2 T C 7: 141,199,478 (GRCm39) Y462H probably benign Het
Ap5b1 T A 19: 5,619,412 (GRCm39) Y277* probably null Het
App T C 16: 84,853,370 (GRCm39) D236G unknown Het
Arid2 A T 15: 96,247,894 (GRCm39) K102I possibly damaging Het
Asl A G 5: 130,043,543 (GRCm39) V211A possibly damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cbx2 A G 11: 118,913,947 (GRCm39) S5G probably benign Het
Ccdc183 A G 2: 25,506,542 (GRCm39) probably null Het
Cd72 T C 4: 43,452,444 (GRCm39) Q183R possibly damaging Het
Cdh26 T A 2: 178,128,555 (GRCm39) D702E possibly damaging Het
Cfap61 A T 2: 145,951,870 (GRCm39) N784I probably damaging Het
Cgrrf1 G A 14: 47,091,321 (GRCm39) V282M probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cobll1 T G 2: 64,964,112 (GRCm39) K170Q probably damaging Het
Copg2 A T 6: 30,792,931 (GRCm39) V468D probably benign Het
Cracr2b C T 7: 141,043,651 (GRCm39) A84V probably benign Het
Cyp2f2 A T 7: 26,831,993 (GRCm39) D416V probably benign Het
Dcaf10 T C 4: 45,342,391 (GRCm39) F75S probably benign Het
Eml3 G T 19: 8,918,392 (GRCm39) A829S probably benign Het
Entpd3 A G 9: 120,390,086 (GRCm39) T402A probably benign Het
Fer1l4 A T 2: 155,887,546 (GRCm39) V550E probably damaging Het
Fgb G A 3: 82,954,053 (GRCm39) R62* probably null Het
Gdf3 A C 6: 122,583,283 (GRCm39) D361E probably damaging Het
Gm6685 A T 11: 28,289,330 (GRCm39) I162N probably damaging Het
Hmx2 A G 7: 131,157,645 (GRCm39) Y253C probably damaging Het
Ints2 G T 11: 86,108,580 (GRCm39) N922K probably benign Het
Ipo7 C T 7: 109,653,254 (GRCm39) L984F probably benign Het
Itgae A T 11: 73,002,184 (GRCm39) Y96F possibly damaging Het
Kalrn A G 16: 34,076,597 (GRCm39) V697A unknown Het
Kctd18 G A 1: 58,006,737 (GRCm39) R38* probably null Het
Kdm5b A G 1: 134,526,844 (GRCm39) D322G probably damaging Het
Ldb3 A G 14: 34,298,992 (GRCm39) Y211H probably benign Het
Limch1 T C 5: 67,111,028 (GRCm39) F85S probably damaging Het
Lrrn4 A T 2: 132,721,613 (GRCm39) L68* probably null Het
Lrwd1 A G 5: 136,152,129 (GRCm39) V616A possibly damaging Het
Nars1 A G 18: 64,640,841 (GRCm39) probably null Het
Nradd T C 9: 110,451,329 (GRCm39) D13G probably benign Het
Oacyl A T 18: 65,831,480 (GRCm39) N39I probably damaging Het
Onecut2 A T 18: 64,473,983 (GRCm39) H178L possibly damaging Het
Or9i14 T A 19: 13,792,786 (GRCm39) Q56L probably benign Het
Pcdhga4 A C 18: 37,820,430 (GRCm39) T660P probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,942,102 (GRCm39) I902F possibly damaging Het
Plod3 T C 5: 137,023,971 (GRCm39) L180S Het
Prrc2c A T 1: 162,508,850 (GRCm39) H2354Q possibly damaging Het
Pth2r A G 1: 65,361,225 (GRCm39) E58G probably benign Het
Rev1 G T 1: 38,110,530 (GRCm39) D573E possibly damaging Het
Sec24a A T 11: 51,605,963 (GRCm39) L696* probably null Het
Serpinb3c A G 1: 107,204,681 (GRCm39) S22P probably damaging Het
St18 A T 1: 6,929,351 (GRCm39) H81L Het
Stard9 A T 2: 120,509,859 (GRCm39) K266* probably null Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Tcp10a C T 17: 7,612,351 (GRCm39) T381I probably benign Het
Tecpr2 T A 12: 110,881,806 (GRCm39) V125D probably damaging Het
Tmc2 T C 2: 130,074,329 (GRCm39) S341P possibly damaging Het
Tmem190 G A 7: 4,787,224 (GRCm39) V143I probably benign Het
Trap1 A G 16: 3,873,693 (GRCm39) Y288H probably benign Het
Trim39 T C 17: 36,571,547 (GRCm39) T404A probably benign Het
Ttn T A 2: 76,576,043 (GRCm39) K24950I probably damaging Het
Ttn G T 2: 76,774,696 (GRCm39) N2161K unknown Het
Unc13b T C 4: 43,215,757 (GRCm39) S19P probably benign Het
Uqcrc1 T A 9: 108,778,536 (GRCm39) I471N probably damaging Het
Wbp11 T C 6: 136,798,540 (GRCm39) T170A probably benign Het
Wnk4 A G 11: 101,152,026 (GRCm39) I177V probably benign Het
Zfp455 C A 13: 67,347,230 (GRCm39) P51T probably damaging Het
Zfp946 T C 17: 22,673,644 (GRCm39) Y133H probably benign Het
Zfp955a A T 17: 33,460,589 (GRCm39) Y514* probably null Het
Zzef1 T C 11: 72,808,697 (GRCm39) probably null 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
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'- GCAGCAATAAAGTTCTCTGTTTTCC -3'
(R):5'- CATGATTTGCAAATCCCTGGGG -3'

Sequencing Primer
(F):5'- TCCTGAAGGTCAAGCAGTTC -3'
(R):5'- GGCATTACAAAAATAGCACTCAGATG -3'
Posted On 2019-05-15