Incidental Mutation 'R7074:Fubp3'
ID549079
Institutional Source Beutler Lab
Gene Symbol Fubp3
Ensembl Gene ENSMUSG00000026843
Gene Namefar upstream element (FUSE) binding protein 3
SynonymsA330051M14Rik, FBP3, Marta2
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.519) question?
Stock #R7074 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location31572651-31617526 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31595294 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 107 (S107P)
Ref Sequence ENSEMBL: ENSMUSP00000053474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055244] [ENSMUST00000113482] [ENSMUST00000137889] [ENSMUST00000154050] [ENSMUST00000194386]
Predicted Effect probably damaging
Transcript: ENSMUST00000055244
AA Change: S107P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053474
Gene: ENSMUSG00000026843
AA Change: S107P

DomainStartEndE-ValueType
KH 76 146 2.21e-18 SMART
KH 161 233 1.29e-19 SMART
KH 252 322 9.69e-15 SMART
low complexity region 330 343 N/A INTRINSIC
KH 353 426 3.48e-16 SMART
low complexity region 490 514 N/A INTRINSIC
low complexity region 529 538 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113482
AA Change: S107P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109110
Gene: ENSMUSG00000026843
AA Change: S107P

DomainStartEndE-ValueType
KH 76 146 2.21e-18 SMART
KH 161 233 1.29e-19 SMART
KH 252 322 9.69e-15 SMART
low complexity region 330 343 N/A INTRINSIC
KH 353 426 3.48e-16 SMART
low complexity region 490 514 N/A INTRINSIC
low complexity region 529 538 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137889
SMART Domains Protein: ENSMUSP00000120241
Gene: ENSMUSG00000026843

DomainStartEndE-ValueType
PDB:4LIJ|C 63 97 3e-9 PDB
Blast:KH 75 97 8e-8 BLAST
SCOP:d1vig__ 76 97 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154050
Predicted Effect probably damaging
Transcript: ENSMUST00000194386
AA Change: S87P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142262
Gene: ENSMUSG00000026843
AA Change: S87P

DomainStartEndE-ValueType
KH 64 123 1.3e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,613,863 I53L probably benign Het
Acss2 T C 2: 155,522,041 L80P possibly damaging Het
Adam3 A T 8: 24,694,347 F546I probably benign Het
Adtrp A T 13: 41,828,141 probably null Het
Anapc1 G T 2: 128,678,274 P208T probably damaging Het
Ankrd33 A G 15: 101,119,549 K281R probably benign Het
Bcl11b A G 12: 107,989,507 S128P probably benign Het
Ccdc57 T C 11: 120,903,374 K265E possibly damaging Het
Cep72 A G 13: 74,051,580 C244R probably benign Het
Cope A G 8: 70,312,887 Q303R probably benign Het
Cpd T A 11: 76,813,594 N398I probably damaging Het
Cplx1 C T 5: 108,548,527 probably null Het
Dixdc1 T A 9: 50,689,914 E344D possibly damaging Het
Dock7 A T 4: 98,945,208 F1951I unknown Het
Ell2 C A 13: 75,761,887 L119M probably damaging Het
Faap24 A T 7: 35,395,102 I91K possibly damaging Het
Gas2l2 T A 11: 83,423,067 Q473L probably benign Het
Ghr A T 15: 3,333,391 Y200N probably damaging Het
Gm4950 G A 18: 51,865,449 Q145* probably null Het
Gm826 C T 2: 160,311,890 V78I unknown Het
Gnas G A 2: 174,285,049 E126K probably damaging Het
Grip2 A T 6: 91,784,708 V235E probably benign Het
Hmgcl A G 4: 135,953,867 H88R probably benign Het
Htr7 A G 19: 36,056,883 V124A probably damaging Het
Igf2r T A 17: 12,714,116 I840F possibly damaging Het
Ints8 T C 4: 11,204,574 I961V possibly damaging Het
Jmy A T 13: 93,453,931 S555T probably benign Het
Klk1b27 G A 7: 44,056,553 G227S probably damaging Het
Lao1 A C 4: 118,968,185 T401P probably damaging Het
Lrwd1 C T 5: 136,123,657 V547I probably benign Het
Mttp C A 3: 138,107,273 R532L possibly damaging Het
Muc16 T C 9: 18,655,650 T1858A unknown Het
Myo18a T A 11: 77,842,561 D1409E probably benign Het
Ncor2 T A 5: 125,049,366 R554* probably null Het
Olfr127 T A 17: 37,903,827 Y94N possibly damaging Het
Olfr168 T A 16: 19,530,105 I272F possibly damaging Het
Olfr222 T C 11: 59,571,009 T244A probably damaging Het
Olfr22-ps1 A T 11: 73,955,149 H153L probably benign Het
Olfr690 A G 7: 105,329,268 M308T probably benign Het
Prkar2b A G 12: 31,972,148 Y213H probably damaging Het
Prkd3 T A 17: 78,974,807 K306* probably null Het
Psd2 A G 18: 36,010,684 E681G probably benign Het
Sel1l2 T A 2: 140,263,442 N276I probably damaging Het
Smox C T 2: 131,522,111 A45V possibly damaging Het
Smyd1 A G 6: 71,237,375 V214A probably damaging Het
Spag5 T C 11: 78,305,042 probably null Het
Trem3 C T 17: 48,249,881 R127W probably damaging Het
Ttn G A 2: 76,918,081 T4208I probably benign Het
Tubgcp6 A G 15: 89,120,636 F260S probably damaging Het
Vmn1r51 A T 6: 90,129,672 D190V probably benign Het
Zc3h14 A G 12: 98,758,600 I174V possibly damaging Het
Zfp423 G A 8: 87,782,432 T428I probably benign Het
Zfp608 T A 18: 54,897,382 N1162I possibly damaging Het
Zmym5 T C 14: 56,804,798 M8V probably benign Het
Other mutations in Fubp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Fubp3 APN 2 31604721 splice site probably null
IGL01583:Fubp3 APN 2 31611743 unclassified probably benign
IGL02532:Fubp3 APN 2 31600559 unclassified probably benign
IGL02709:Fubp3 APN 2 31595331 splice site probably benign
R0140:Fubp3 UTSW 2 31608184 missense probably damaging 1.00
R0555:Fubp3 UTSW 2 31608137 missense probably damaging 0.98
R1303:Fubp3 UTSW 2 31600520 missense probably damaging 1.00
R1439:Fubp3 UTSW 2 31598551 missense probably damaging 1.00
R1447:Fubp3 UTSW 2 31600547 missense probably damaging 0.99
R1789:Fubp3 UTSW 2 31611735 missense possibly damaging 0.62
R1973:Fubp3 UTSW 2 31603286 missense probably benign
R2141:Fubp3 UTSW 2 31600557 unclassified probably benign
R4708:Fubp3 UTSW 2 31608110 missense probably benign 0.01
R4780:Fubp3 UTSW 2 31583211 missense probably damaging 0.99
R4836:Fubp3 UTSW 2 31608141 missense possibly damaging 0.93
R5468:Fubp3 UTSW 2 31603235 missense probably benign
R5851:Fubp3 UTSW 2 31598610 missense probably benign
R6778:Fubp3 UTSW 2 31598673 missense possibly damaging 0.93
R7170:Fubp3 UTSW 2 31598620 missense probably benign 0.00
R7317:Fubp3 UTSW 2 31604612 critical splice acceptor site probably null
X0022:Fubp3 UTSW 2 31583224 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACGTCCATGAGCTGAGAG -3'
(R):5'- TGAACCTCATTACCAGGCTG -3'

Sequencing Primer
(F):5'- TCCATGAGCTGAGAGGACTC -3'
(R):5'- CATTACCAGGCTGGCTTTTG -3'
Posted On2019-05-15