Incidental Mutation 'R4793:Fubp1'
ID 368748
Institutional Source Beutler Lab
Gene Symbol Fubp1
Ensembl Gene ENSMUSG00000028034
Gene Name far upstream element (FUSE) binding protein 1
Synonyms 9530027K12Rik, Fubp4, Fubp, FBP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4793 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 151916059-151942463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151928966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 135 (Y135N)
Ref Sequence ENSEMBL: ENSMUSP00000143478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106121] [ENSMUST00000166984] [ENSMUST00000196062] [ENSMUST00000196429] [ENSMUST00000196695] [ENSMUST00000196739] [ENSMUST00000198227] [ENSMUST00000199876] [ENSMUST00000200452] [ENSMUST00000200524] [ENSMUST00000199202]
AlphaFold Q91WJ8
Predicted Effect unknown
Transcript: ENSMUST00000106121
AA Change: Y509N
SMART Domains Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034
AA Change: Y509N

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: Y509N
SMART Domains Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034
AA Change: Y509N

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 possibly damaging
Transcript: ENSMUST00000196429
AA Change: Y135N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143478
Gene: ENSMUSG00000028034
AA Change: Y135N

DomainStartEndE-ValueType
KH 1 69 1.1e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196695
AA Change: Y510N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000143729
Gene: ENSMUSG00000028034
AA Change: Y510N

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: Y510N
SMART Domains Protein: ENSMUSP00000143101
Gene: ENSMUSG00000028034
AA Change: Y510N

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 noncoding transcript
Transcript: ENSMUST00000197141
Predicted Effect unknown
Transcript: ENSMUST00000200056
AA Change: Y3N
Predicted Effect unknown
Transcript: ENSMUST00000198227
AA Change: Y509N
SMART Domains Protein: ENSMUSP00000143370
Gene: ENSMUSG00000028034
AA Change: Y509N

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: ENSMUST00000199876
AA Change: Y510N
SMART Domains Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
AA Change: Y510N

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 unknown
Transcript: ENSMUST00000200452
AA Change: Y509N
SMART Domains Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034
AA Change: Y509N

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: Y510N
SMART Domains Protein: ENSMUSP00000143354
Gene: ENSMUSG00000028034
AA Change: Y510N

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
Predicted Effect silent
Transcript: ENSMUST00000198405
Predicted Effect unknown
Transcript: ENSMUST00000199918
AA Change: Y11N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198046
Predicted Effect probably benign
Transcript: ENSMUST00000199202
SMART Domains Protein: ENSMUSP00000143204
Gene: ENSMUSG00000028034

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
Meta Mutation Damage Score 0.1353 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (91/91)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,082,544 (GRCm39) E1143V probably benign Het
Abi2 T A 1: 60,448,963 (GRCm39) M1K probably null Het
Acp2 T C 2: 91,037,134 (GRCm39) F205L probably benign Het
Adam17 T C 12: 21,397,396 (GRCm39) N219D probably benign Het
Aldh2 T C 5: 121,707,042 (GRCm39) S168G probably damaging Het
Arhgap15 A T 2: 44,032,353 (GRCm39) E312D probably damaging Het
Calm5 T C 13: 3,904,401 (GRCm39) S32P probably benign Het
Capn12 G A 7: 28,592,094 (GRCm39) D671N probably benign Het
Ccdc73 A G 2: 104,848,127 (GRCm39) probably null Het
Cdc20 T A 4: 118,294,261 (GRCm39) I20F probably benign Het
Cdh23 A T 10: 60,167,129 (GRCm39) I1841N probably damaging Het
Cftr T C 6: 18,226,087 (GRCm39) V345A probably damaging Het
Col15a1 T C 4: 47,262,997 (GRCm39) S550P possibly damaging Het
Col4a4 A G 1: 82,516,820 (GRCm39) Y133H unknown Het
Csmd1 A G 8: 16,138,277 (GRCm39) S1592P probably damaging Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dock5 A G 14: 68,037,803 (GRCm39) S947P probably benign Het
Dpysl2 G T 14: 67,052,498 (GRCm39) A339D possibly damaging Het
Ebf2 A G 14: 67,647,531 (GRCm39) D360G probably damaging Het
Ensa T C 3: 95,532,489 (GRCm39) probably null Het
Fap C A 2: 62,374,713 (GRCm39) V229F probably damaging Het
Fbn1 C A 2: 125,163,155 (GRCm39) G2116* probably null Het
Frmd4b A T 6: 97,272,822 (GRCm39) S857T probably damaging Het
Fsip2 T A 2: 82,818,044 (GRCm39) Y4592* probably null Het
Gdap2 T C 3: 100,078,234 (GRCm39) L66P probably damaging Het
Gm10257 T C 13: 101,083,305 (GRCm39) noncoding transcript Het
Gm1758 A T 16: 14,325,036 (GRCm39) noncoding transcript Het
Gna13 T C 11: 109,254,455 (GRCm39) probably benign Het
H2bc13 T C 13: 21,900,088 (GRCm39) S76G probably benign Het
Heatr1 T C 13: 12,446,718 (GRCm39) I1689T probably benign Het
Hephl1 A G 9: 15,009,286 (GRCm39) I102T probably benign Het
Hltf T G 3: 20,118,114 (GRCm39) Y121D possibly damaging Het
Hspg2 T C 4: 137,256,784 (GRCm39) V1509A possibly damaging Het
Ifitm5 G T 7: 140,530,077 (GRCm39) R16S probably benign Het
Il1rap A C 16: 26,513,984 (GRCm39) D239A probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcna6 T C 6: 126,715,519 (GRCm39) I457V probably damaging Het
Kctd17 T A 15: 78,317,224 (GRCm39) L47Q probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc63 A G 14: 75,363,601 (GRCm39) S177P possibly damaging Het
Lrriq1 T C 10: 103,006,327 (GRCm39) D1266G probably benign Het
Map3k2 G T 18: 32,361,203 (GRCm39) M554I probably damaging Het
Mst1r T A 9: 107,797,124 (GRCm39) V1331E probably damaging Het
Musk T C 4: 58,373,400 (GRCm39) I775T probably damaging Het
Mybl2 A G 2: 162,916,683 (GRCm39) K7E probably damaging Het
Nf1 T C 11: 79,338,398 (GRCm39) S1137P probably damaging Het
Nlrp5 A G 7: 23,117,055 (GRCm39) I260V probably damaging Het
Or13c7 A T 4: 43,854,323 (GRCm39) N5Y probably benign Het
Or9g4 A C 2: 85,504,842 (GRCm39) Y218D probably damaging Het
Or9s23 G T 1: 92,501,207 (GRCm39) A105S possibly damaging Het
Pabpc1l C T 2: 163,869,542 (GRCm39) A114V possibly damaging Het
Plac8l1 T A 18: 42,311,973 (GRCm39) I149F possibly damaging Het
Pou6f1 T A 15: 100,476,293 (GRCm39) N531I probably damaging Het
Prdm10 A G 9: 31,264,701 (GRCm39) Y712C probably damaging Het
Ptbp3 T C 4: 59,514,297 (GRCm39) T43A possibly damaging Het
Ptpn13 T C 5: 103,730,644 (GRCm39) probably null Het
Rnf135 T C 11: 80,087,775 (GRCm39) probably null Het
Rusf1 A T 7: 127,887,374 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,005,951 (GRCm39) L379P probably damaging Het
Sh2d6 T A 6: 72,494,581 (GRCm39) T124S probably benign Het
Slc26a5 G A 5: 22,042,992 (GRCm39) P153S probably damaging Het
Slc5a7 A G 17: 54,588,822 (GRCm39) F275S possibly damaging Het
Snx14 A G 9: 88,276,495 (GRCm39) S606P probably damaging Het
Sphkap A T 1: 83,255,805 (GRCm39) I648K possibly damaging Het
Spon2 T C 5: 33,371,904 (GRCm39) T301A probably damaging Het
Srpra C T 9: 35,124,447 (GRCm39) T48I probably benign Het
Taar9 G A 10: 23,985,408 (GRCm39) P9S probably benign Het
Tacc1 A T 8: 25,672,405 (GRCm39) S274R possibly damaging Het
Tc2n A G 12: 101,617,376 (GRCm39) S348P possibly damaging Het
Timd2 G T 11: 46,578,008 (GRCm39) T41K probably damaging Het
Tmem132a T A 19: 10,842,857 (GRCm39) E206V probably damaging Het
Tmt1a3 A G 15: 100,232,889 (GRCm39) M27V probably benign Het
Tpi1 A T 6: 124,789,544 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,765 (GRCm39) T429P probably benign Het
Trav4-3 A G 14: 53,836,615 (GRCm39) S27G possibly damaging Het
Tubd1 T C 11: 86,457,895 (GRCm39) M462T probably benign Het
Ube4a T C 9: 44,860,120 (GRCm39) D314G probably damaging Het
Utp25 T A 1: 192,796,116 (GRCm39) Q50L probably null Het
Vmn2r58 G T 7: 41,514,495 (GRCm39) T158K probably damaging Het
Vmn2r68 C A 7: 84,883,648 (GRCm39) M152I probably benign Het
Vmn2r91 A G 17: 18,325,658 (GRCm39) E92G probably damaging Het
Wdr20rt T C 12: 65,273,395 (GRCm39) V113A probably damaging Het
Zfp729a T C 13: 67,768,546 (GRCm39) H561R probably damaging Het
Zfp804a T A 2: 82,066,186 (GRCm39) D52E 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
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
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'- GGCTTTCCCTAAAGACCTAGGAATTG -3'
(R):5'- GTCACAACATACTAGACAGCAGTG -3'

Sequencing Primer
(F):5'- CAGGGTATCTTTACAGCGACACTAG -3'
(R):5'- CAGTGTCATCCTATACTGCAGGG -3'
Posted On 2016-02-04