Incidental Mutation 'IGL02546:Pfkfb3'
ID297848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pfkfb3
Ensembl Gene ENSMUSG00000026773
Gene Name6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
SynonymsE330010H22Rik, uPFK-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02546
Quality Score
Status
Chromosome2
Chromosomal Location11471433-11554077 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 11488778 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 129 (F129Y)
Ref Sequence ENSEMBL: ENSMUSP00000141445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028114] [ENSMUST00000049849] [ENSMUST00000100411] [ENSMUST00000114844] [ENSMUST00000114845] [ENSMUST00000114846] [ENSMUST00000170196] [ENSMUST00000171188] [ENSMUST00000179584] [ENSMUST00000183869] [ENSMUST00000191668] [ENSMUST00000192949] [ENSMUST00000195779]
Predicted Effect probably damaging
Transcript: ENSMUST00000028114
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 2.6e-110 PFAM
Pfam:KTI12 36 218 7e-9 PFAM
Pfam:AAA_33 37 191 1.7e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000049849
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.3e-110 PFAM
Pfam:KTI12 36 218 9.7e-9 PFAM
Pfam:AAA_33 37 191 1.9e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100411
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 5.8e-110 PFAM
Pfam:KTI12 36 219 9.6e-9 PFAM
Pfam:AAA_33 37 191 2.4e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114844
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 6.6e-110 PFAM
Pfam:KTI12 36 218 1.1e-8 PFAM
Pfam:AAA_33 37 191 2.6e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114845
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 2.6e-110 PFAM
Pfam:KTI12 36 218 7e-9 PFAM
Pfam:AAA_33 37 191 1.7e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114846
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.1e-110 PFAM
Pfam:KTI12 36 219 9e-9 PFAM
Pfam:AAA_33 37 191 1.9e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155167
Predicted Effect probably damaging
Transcript: ENSMUST00000170196
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.4e-110 PFAM
Pfam:KTI12 36 218 9.9e-9 PFAM
Pfam:AAA_33 37 191 2e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171188
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.2e-110 PFAM
Pfam:KTI12 36 209 4.2e-8 PFAM
Pfam:AAA_33 37 167 1.8e-9 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000179584
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 2.3e-110 PFAM
Pfam:KTI12 36 225 7e-9 PFAM
Pfam:AAA_33 37 191 1.5e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000183869
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 2.3e-110 PFAM
Pfam:KTI12 36 225 7e-9 PFAM
Pfam:AAA_33 37 191 1.5e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191668
AA Change: F149Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: F149Y

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.6e-110 PFAM
Pfam:KTI12 36 218 1e-8 PFAM
Pfam:AAA_33 37 191 2.1e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192844
Predicted Effect probably damaging
Transcript: ENSMUST00000192949
AA Change: F129Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: F129Y

DomainStartEndE-ValueType
Pfam:6PF2K 3 226 1.9e-107 PFAM
Pfam:KTI12 16 200 3.9e-6 PFAM
Pfam:AAA_33 17 171 1.9e-8 PFAM
PGAM 228 375 3.8e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195779
AA Change: F129Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: F129Y

DomainStartEndE-ValueType
Pfam:6PF2K 3 159 1.3e-69 PFAM
Pfam:KTI12 16 212 1.8e-6 PFAM
Pfam:AAA_33 17 163 1.6e-9 PFAM
Pfam:6PF2K 158 242 2.2e-32 PFAM
Pfam:His_Phos_1 244 326 3.4e-13 PFAM
Coding Region Coverage
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 belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null mice display embryonic lethality before E8 [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,066,927 W385R probably damaging Het
A730017C20Rik T A 18: 59,072,275 M45K probably damaging Het
Akap6 G T 12: 52,880,738 V144L probably damaging Het
Carmil1 A T 13: 24,115,499 N347K probably damaging Het
Cyp4a32 A G 4: 115,611,323 Y334C probably damaging Het
Dmxl2 C A 9: 54,366,414 probably benign Het
Eps8 C T 6: 137,479,066 A806T probably benign Het
Evl A G 12: 108,648,419 N24S possibly damaging Het
Fbxo15 T C 18: 84,962,722 probably null Het
Gm14179 A T 11: 99,743,193 Het
Hepacam2 A G 6: 3,483,568 V147A possibly damaging Het
Jmjd1c C A 10: 67,225,336 P1156Q possibly damaging Het
Mab21l3 A T 3: 101,823,308 V205E probably damaging Het
Mad2l1 T C 6: 66,535,967 I28T probably damaging Het
Mroh9 T A 1: 163,080,576 I2F probably benign Het
Msr1 A T 8: 39,615,747 I302K probably benign Het
Msrb3 C T 10: 120,850,001 V80I possibly damaging Het
Ncf4 A G 15: 78,261,019 D269G probably damaging Het
Nsl1 T A 1: 191,071,201 H156Q probably benign Het
Nutm1 T C 2: 112,248,324 D1082G probably benign Het
Olfr812 T A 10: 129,842,547 D165V probably damaging Het
Olfr835 T A 9: 19,035,354 V77D possibly damaging Het
Orc4 T C 2: 48,917,284 I212V probably null Het
Pde6c A G 19: 38,140,040 I184V probably benign Het
Ppp3cb T C 14: 20,501,554 D493G probably benign Het
Psg29 A G 7: 17,208,782 Y236C probably damaging Het
Pzp C T 6: 128,494,699 probably benign Het
Sgf29 T A 7: 126,671,853 V180E probably damaging Het
Sh3bp4 A G 1: 89,143,544 probably benign Het
Slc39a2 A T 14: 51,895,163 T188S probably benign Het
Slc6a13 G T 6: 121,333,364 M327I probably benign Het
Slitrk6 T A 14: 110,749,794 H827L probably benign Het
Thumpd2 T G 17: 81,054,455 K114T probably benign Het
Tnfrsf19 A T 14: 60,973,538 C234S possibly damaging Het
Tns2 A G 15: 102,110,940 D446G probably damaging Het
Tpm4 A G 8: 72,144,703 E137G probably damaging Het
Ttn G A 2: 76,795,557 R13307C probably damaging Het
Ubqln3 A G 7: 104,142,518 S122P probably benign Het
Ubr5 T C 15: 38,008,747 D1080G probably benign Het
Ulk4 A T 9: 121,152,307 L886* probably null Het
Unc80 T C 1: 66,554,953 S1164P possibly damaging Het
Uspl1 T C 5: 149,204,304 V371A possibly damaging Het
Virma T C 4: 11,494,804 V35A probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp787 A T 7: 6,132,298 I318N probably damaging Het
Other mutations in Pfkfb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Pfkfb3 APN 2 11488754 missense probably damaging 1.00
IGL01651:Pfkfb3 APN 2 11489684 missense probably damaging 0.97
IGL02010:Pfkfb3 APN 2 11483994 missense probably benign
IGL03182:Pfkfb3 APN 2 11501663 missense probably damaging 0.99
R1491:Pfkfb3 UTSW 2 11493936 missense probably damaging 1.00
R2365:Pfkfb3 UTSW 2 11493902 critical splice donor site probably null
R2919:Pfkfb3 UTSW 2 11484327 missense probably benign 0.00
R2920:Pfkfb3 UTSW 2 11484327 missense probably benign 0.00
R4709:Pfkfb3 UTSW 2 11493908 missense probably damaging 1.00
R4863:Pfkfb3 UTSW 2 11486312 missense probably benign
R4915:Pfkfb3 UTSW 2 11490298 nonsense probably null
R5087:Pfkfb3 UTSW 2 11484014 missense probably damaging 1.00
R5109:Pfkfb3 UTSW 2 11486351 splice site probably benign
R5244:Pfkfb3 UTSW 2 11484849 missense probably damaging 1.00
R5488:Pfkfb3 UTSW 2 11484669 missense probably benign 0.00
R5573:Pfkfb3 UTSW 2 11501672 missense probably benign 0.28
R5619:Pfkfb3 UTSW 2 11484659 missense probably benign 0.00
R5757:Pfkfb3 UTSW 2 11480330 missense probably damaging 0.99
R6015:Pfkfb3 UTSW 2 11481335 critical splice acceptor site probably null
R7495:Pfkfb3 UTSW 2 11482501 missense probably damaging 1.00
R7688:Pfkfb3 UTSW 2 11492639 missense probably damaging 1.00
R7813:Pfkfb3 UTSW 2 11481908 missense probably benign 0.12
X0024:Pfkfb3 UTSW 2 11482555 missense probably damaging 0.98
Posted On2015-04-16