Incidental Mutation 'R4708:Fubp3'
ID355392
Institutional Source Beutler Lab
Gene Symbol Fubp3
Ensembl Gene ENSMUSG00000026843
Gene Namefar upstream element (FUSE) binding protein 3
SynonymsA330051M14Rik, FBP3, Marta2
MMRRC Submission 042017-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.468) question?
Stock #R4708 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location31572651-31617526 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31608110 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 92 (T92I)
Ref Sequence ENSEMBL: ENSMUSP00000141283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055244] [ENSMUST00000113482] [ENSMUST00000134553]
Predicted Effect probably benign
Transcript: ENSMUST00000055244
AA Change: T334I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000053474
Gene: ENSMUSG00000026843
AA Change: T334I

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: ENSMUST00000113482
AA Change: T334I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109110
Gene: ENSMUSG00000026843
AA Change: T334I

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 unknown
Transcript: ENSMUST00000129903
AA Change: T46I
SMART Domains Protein: ENSMUSP00000117970
Gene: ENSMUSG00000026843
AA Change: T46I

DomainStartEndE-ValueType
Blast:KH 2 35 5e-16 BLAST
low complexity region 43 56 N/A INTRINSIC
KH 66 139 3.48e-16 SMART
low complexity region 213 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134553
AA Change: T92I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141283
Gene: ENSMUSG00000026843
AA Change: T92I

DomainStartEndE-ValueType
KH 10 80 5.9e-17 SMART
low complexity region 88 101 N/A INTRINSIC
KH 111 184 2.2e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150473
SMART Domains Protein: ENSMUSP00000123589
Gene: ENSMUSG00000026843

DomainStartEndE-ValueType
Pfam:DUF1897 39 66 2.8e-8 PFAM
Pfam:DUF1897 66 88 3.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183343
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,611,885 G2D probably damaging Het
4930430F08Rik T C 10: 100,578,381 I139V probably benign Het
4930505A04Rik T C 11: 30,454,717 Y62C probably damaging Het
4931408C20Rik A T 1: 26,684,440 V553D possibly damaging Het
Aadacl4 A C 4: 144,623,329 K385N probably benign Het
Abcb4 A T 5: 8,915,125 T332S possibly damaging Het
Aco2 G A 15: 81,909,916 probably null Het
Aplf G T 6: 87,663,757 S69Y probably damaging Het
Arhgap27 A G 11: 103,333,562 probably benign Het
B4galnt1 T A 10: 127,169,815 Y262N probably damaging Het
Bag4 C T 8: 25,769,488 A228T probably benign Het
BC017158 A G 7: 128,274,680 V345A probably benign Het
Ccdc62 T G 5: 123,930,862 probably null Het
Cd109 T A 9: 78,672,589 I649K probably benign Het
Cd209b T C 8: 3,924,215 E99G probably damaging Het
Cep290 A G 10: 100,523,264 K952R probably benign Het
Ces2a A G 8: 104,737,306 H190R probably benign Het
Clec14a A G 12: 58,267,703 S378P probably benign Het
Col27a1 A G 4: 63,283,913 Q947R probably benign Het
Dennd3 A G 15: 73,523,495 T146A probably damaging Het
Dpy19l4 T A 4: 11,277,970 M486L probably benign Het
Dysf C A 6: 84,097,715 D499E probably damaging Het
Eif4enif1 T G 11: 3,220,323 H125Q probably damaging Het
Fam35a A G 14: 34,267,833 V372A probably benign Het
Fcgbp A T 7: 28,094,961 M1197L probably benign Het
Gm19426 T C 2: 84,743,459 probably null Het
Gtf2ird2 A G 5: 134,216,298 H466R probably damaging Het
Hdac5 T C 11: 102,202,193 S573G probably damaging Het
Iars2 A T 1: 185,289,357 M916K probably benign Het
Insr A T 8: 3,211,346 probably benign Het
Itgam T C 7: 128,101,537 V493A probably damaging Het
Ivl T A 3: 92,571,750 K336I probably damaging Het
Kcng2 A G 18: 80,322,852 I95T probably damaging Het
Lap3 A G 5: 45,511,138 R431G probably damaging Het
Lrrc66 T C 5: 73,629,662 H115R probably benign Het
Morc3 T C 16: 93,873,238 V767A probably benign Het
Mttp A G 3: 138,134,098 probably benign Het
Myo1c C T 11: 75,670,030 R770* probably null Het
Nat9 G A 11: 115,183,443 T133M probably damaging Het
Nectin4 T C 1: 171,385,146 I349T probably benign Het
Nlrp4a A G 7: 26,464,108 E900G probably benign Het
Nlrp9c A T 7: 26,384,840 M438K probably benign Het
Olfr1384 T A 11: 49,514,389 Y250* probably null Het
Olfr1444 A T 19: 12,861,897 I41F probably benign Het
Olfr551 A T 7: 102,587,836 D302E probably benign Het
Parp6 T C 9: 59,641,769 I507T probably damaging Het
Pde6c G A 19: 38,180,893 E804K possibly damaging Het
Plscr2 A G 9: 92,291,014 Y203C probably damaging Het
Ptprs A G 17: 56,428,067 W216R probably damaging Het
Rhof T A 5: 123,120,391 T126S probably benign Het
Riox2 A G 16: 59,475,682 I49V probably benign Het
Tmc6 A T 11: 117,768,948 C750S probably benign Het
Tmem231 C A 8: 111,933,786 probably benign Het
Tmem94 T A 11: 115,786,295 I131N possibly damaging Het
Tmx3 T C 18: 90,521,039 probably null Het
Tnfrsf21 C T 17: 43,038,232 T245I possibly damaging Het
Ttbk2 C A 2: 120,739,861 R1201S probably damaging Het
Vmn2r102 A T 17: 19,694,314 M714L probably benign Het
Vmn2r109 A G 17: 20,541,343 L584S probably damaging Het
Vmn2r53 T A 7: 12,601,202 H177L probably benign Het
Vnn1 T A 10: 23,897,352 D92E probably benign Het
Zan T C 5: 137,446,712 I1762V unknown Het
Zbtb20 G T 16: 43,610,676 A517S probably damaging Het
Zfhx4 A G 3: 5,245,503 probably null Het
Zfp560 T C 9: 20,351,918 E54G possibly damaging Het
Zfp719 C T 7: 43,590,232 H415Y probably damaging Het
Zmynd11 A C 13: 9,695,753 V188G probably damaging 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
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
R7074:Fubp3 UTSW 2 31595294 missense probably damaging 1.00
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'- GCTGTGTGGATGCCCATATG -3'
(R):5'- TCTGAAGGATGGCATTTCCTCC -3'

Sequencing Primer
(F):5'- GTTGATTGTATTCTGAATGCCAGC -3'
(R):5'- AAGGATGGCATTTCCTCCCTTGAG -3'
Posted On2015-10-21