Incidental Mutation 'IGL02709:Fubp3'
ID304513
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fubp3
Ensembl Gene ENSMUSG00000026843
Gene Namefar upstream element (FUSE) binding protein 3
SynonymsA330051M14Rik, FBP3, Marta2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.567) question?
Stock #IGL02709
Quality Score
Status
Chromosome2
Chromosomal Location31572651-31617526 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 31595331 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055244] [ENSMUST00000113482] [ENSMUST00000137889] [ENSMUST00000154050] [ENSMUST00000194386]
Predicted Effect probably benign
Transcript: ENSMUST00000055244
SMART Domains Protein: ENSMUSP00000053474
Gene: ENSMUSG00000026843

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
SMART Domains Protein: ENSMUSP00000109110
Gene: ENSMUSG00000026843

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 benign
Transcript: ENSMUST00000194386
SMART Domains Protein: ENSMUSP00000142262
Gene: ENSMUSG00000026843

DomainStartEndE-ValueType
KH 64 123 1.3e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 G A 4: 40,180,199 V367M possibly damaging Het
Acsm5 G A 7: 119,534,818 W274* probably null Het
Ago1 G A 4: 126,453,640 Q135* probably null Het
AI314180 A G 4: 58,872,699 S201P possibly damaging Het
Bmpr1b A T 3: 141,856,553 L291Q probably damaging Het
Cdcp1 A G 9: 123,173,814 Y731H probably damaging Het
Clrn2 A G 5: 45,460,153 N122S probably damaging Het
Col4a3 G T 1: 82,679,112 G751W unknown Het
Ctsc C T 7: 88,308,139 A294V probably damaging Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Dennd6b A T 15: 89,190,922 probably benign Het
Dnah10 T A 5: 124,773,745 Y1659* probably null Het
Dspp A C 5: 104,177,250 D493A unknown Het
Dyrk1a C T 16: 94,685,243 A445V probably benign Het
E030025P04Rik C A 11: 109,139,498 probably benign Het
Foxd4 T C 19: 24,899,609 H409R probably damaging Het
Gm5538 A G 3: 59,747,198 Y151C probably damaging Het
Herc1 A G 9: 66,497,680 K4511E probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map1lc3b T A 8: 121,596,029 L82Q probably damaging Het
Mcc A T 18: 44,445,810 S844T possibly damaging Het
Mccc1 A T 3: 35,990,739 *85K probably null Het
Memo1 G A 17: 74,245,032 L90F probably damaging Het
Mfrp A G 9: 44,103,264 H236R probably benign Het
Mmrn1 G A 6: 60,973,046 D327N probably damaging Het
Mycbp2 T C 14: 103,155,261 E3178G probably damaging Het
Pcsk9 A G 4: 106,447,689 probably benign Het
Pros1 T C 16: 62,898,945 L110P probably damaging Het
Reck A G 4: 43,913,791 Y215C probably damaging Het
Ripk4 T C 16: 97,743,566 D627G probably damaging Het
Rnf144a G T 12: 26,321,010 H151N probably damaging Het
Slc39a9 T A 12: 80,666,647 H106Q probably damaging Het
Stab2 A G 10: 86,846,165 probably benign Het
Sympk T G 7: 19,047,538 H806Q probably benign Het
Tars2 C A 3: 95,742,071 probably benign Het
Thap3 T A 4: 151,985,712 H75L probably damaging Het
Trappc8 T C 18: 20,837,178 I918M possibly damaging Het
Ube2j2 T C 4: 155,957,331 V249A probably damaging Het
Ubqln3 T G 7: 104,141,336 T516P probably benign Het
Unc13c A G 9: 73,558,956 S1810P probably benign Het
Vmn1r4 T A 6: 56,956,539 Y9* probably null Het
Vmn1r89 T A 7: 13,220,204 M221K probably damaging Het
Vmn2r1 G T 3: 64,104,934 V739F probably benign Het
Vmn2r25 C T 6: 123,839,764 R286Q possibly damaging Het
Vmn2r91 T A 17: 18,105,449 Y110N possibly damaging Het
Zbtb48 T C 4: 152,021,394 H418R 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
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
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
Posted On2015-04-16