Incidental Mutation 'R1146:Pfkfb4'
ID 102449
Institutional Source Beutler Lab
Gene Symbol Pfkfb4
Ensembl Gene ENSMUSG00000025648
Gene Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
Synonyms
MMRRC Submission 039219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1146 (G1)
Quality Score 208
Status Not validated
Chromosome 9
Chromosomal Location 108991778-109032228 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109007726 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 163 (E163G)
Ref Sequence ENSEMBL: ENSMUSP00000142992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051873] [ENSMUST00000196249] [ENSMUST00000198140] [ENSMUST00000199591]
AlphaFold Q6DTY7
Predicted Effect probably benign
Transcript: ENSMUST00000051873
AA Change: E147G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: E147G

DomainStartEndE-ValueType
Pfam:6PF2K 28 249 3.2e-105 PFAM
Pfam:AAA_33 41 199 2.3e-8 PFAM
PGAM 251 398 4.39e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196249
Predicted Effect probably benign
Transcript: ENSMUST00000198140
AA Change: E163G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: E163G

DomainStartEndE-ValueType
Pfam:6PF2K 28 249 1.9e-105 PFAM
Pfam:AAA_33 41 198 8.5e-10 PFAM
PGAM 251 398 4.39e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199184
Predicted Effect probably benign
Transcript: ENSMUST00000199591
AA Change: E163G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: E163G

DomainStartEndE-ValueType
Pfam:6PF2K 28 249 1.4e-105 PFAM
Pfam:AAA_33 41 198 6.6e-10 PFAM
PGAM 251 396 4.98e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200229
Meta Mutation Damage Score 0.1628 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.6%
  • 10x: 85.8%
  • 20x: 55.8%
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 is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,531,676 (GRCm38) V1848E probably damaging Het
Alpk3 A G 7: 81,077,595 (GRCm38) K158E probably damaging Het
Arrdc4 T A 7: 68,740,008 (GRCm38) E356D probably damaging Het
Asb4 A G 6: 5,423,591 (GRCm38) N246S probably damaging Het
Ctsj G A 13: 61,002,498 (GRCm38) P230L probably benign Het
Eme1 A G 11: 94,645,451 (GRCm38) L564P probably damaging Het
Fabp3 C T 4: 130,312,387 (GRCm38) T57I probably benign Het
Fzd2 A T 11: 102,605,380 (GRCm38) S217C possibly damaging Het
Gaa G T 11: 119,274,904 (GRCm38) R81L probably damaging Het
Gfral A G 9: 76,167,059 (GRCm38) V368A probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gucy1a2 T A 9: 3,759,830 (GRCm38) N545K probably damaging Het
Herc2 T C 7: 56,146,696 (GRCm38) S1939P probably benign Het
Ifnk T C 4: 35,152,231 (GRCm38) I53T probably benign Het
Iqub G A 6: 24,505,628 (GRCm38) L94F possibly damaging Het
Kpna1 C T 16: 36,033,379 (GRCm38) R460* probably null Het
Masp1 T C 16: 23,492,115 (GRCm38) E189G probably damaging Het
Mogat1 A G 1: 78,523,613 (GRCm38) I105V probably benign Het
Msh2 C A 17: 87,680,060 (GRCm38) D209E probably benign Het
Nsf G A 11: 103,828,538 (GRCm38) T646I probably damaging Het
Olfr1257 C T 2: 89,881,206 (GRCm38) P127S probably damaging Het
Olfr1416 G A 1: 92,479,890 (GRCm38) H244Y probably damaging Het
Olfr1449 T A 19: 12,934,965 (GRCm38) S76T possibly damaging Het
Olfr980 A T 9: 40,006,094 (GRCm38) V285D possibly damaging Het
Otogl T A 10: 107,886,513 (GRCm38) I327F probably damaging Het
Pappa2 T C 1: 158,854,982 (GRCm38) D832G probably damaging Het
Phc1 T C 6: 122,323,457 (GRCm38) probably benign Het
Piwil1 T C 5: 128,747,893 (GRCm38) S552P probably benign Het
Ppfia3 A C 7: 45,352,215 (GRCm38) D424E probably benign Het
Ptpro T A 6: 137,443,594 (GRCm38) V1007D probably damaging Het
Rbsn A G 6: 92,201,730 (GRCm38) probably null Het
Rexo1 C T 10: 80,544,405 (GRCm38) S919N probably benign Het
Sec31a T C 5: 100,362,173 (GRCm38) N1152D probably damaging Het
Sel1l3 A T 5: 53,117,103 (GRCm38) F1012I possibly damaging Het
Sema4c A G 1: 36,550,565 (GRCm38) V539A probably benign Het
Sf3b5 A G 10: 13,008,831 (GRCm38) E70G possibly damaging Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,357,755 (GRCm38) probably benign Het
Tor1aip2 T C 1: 156,064,737 (GRCm38) V263A possibly damaging Het
Unc45b A G 11: 82,922,907 (GRCm38) E380G probably damaging Het
Usp16 C T 16: 87,474,648 (GRCm38) T364M possibly damaging Het
Usp50 T C 2: 126,709,472 (GRCm38) Y29C probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,359,988 (GRCm38) probably benign Het
Wwox T C 8: 114,712,036 (GRCm38) S281P probably damaging Het
Zfp110 A G 7: 12,846,794 (GRCm38) probably null Het
Zfp335 G A 2: 164,896,123 (GRCm38) A856V probably benign Het
Zfp652 G A 11: 95,749,782 (GRCm38) E178K possibly damaging Het
Other mutations in Pfkfb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Pfkfb4 APN 9 108,999,134 (GRCm38) missense probably damaging 1.00
IGL01978:Pfkfb4 APN 9 109,028,942 (GRCm38) missense probably damaging 1.00
IGL02119:Pfkfb4 APN 9 109,025,110 (GRCm38) missense probably damaging 1.00
IGL02121:Pfkfb4 APN 9 109,025,110 (GRCm38) missense probably damaging 1.00
IGL02122:Pfkfb4 APN 9 109,025,110 (GRCm38) missense probably damaging 1.00
IGL02123:Pfkfb4 APN 9 109,025,110 (GRCm38) missense probably damaging 1.00
IGL02125:Pfkfb4 APN 9 109,025,110 (GRCm38) missense probably damaging 1.00
IGL02126:Pfkfb4 APN 9 109,025,110 (GRCm38) missense probably damaging 1.00
IGL02506:Pfkfb4 APN 9 109,030,336 (GRCm38) missense probably benign 0.00
IGL02881:Pfkfb4 APN 9 109,007,296 (GRCm38) missense probably null 1.00
PIT4466001:Pfkfb4 UTSW 9 108,999,154 (GRCm38) missense probably benign 0.12
PIT4472001:Pfkfb4 UTSW 9 108,999,154 (GRCm38) missense probably benign 0.12
R0087:Pfkfb4 UTSW 9 109,007,701 (GRCm38) missense probably damaging 1.00
R0101:Pfkfb4 UTSW 9 109,010,643 (GRCm38) missense probably benign 0.03
R0109:Pfkfb4 UTSW 9 108,998,889 (GRCm38) missense probably benign 0.27
R0109:Pfkfb4 UTSW 9 108,998,889 (GRCm38) missense probably benign 0.27
R0379:Pfkfb4 UTSW 9 109,027,742 (GRCm38) splice site probably benign
R0511:Pfkfb4 UTSW 9 109,027,757 (GRCm38) missense probably damaging 1.00
R1146:Pfkfb4 UTSW 9 109,007,726 (GRCm38) missense probably benign 0.00
R1490:Pfkfb4 UTSW 9 109,027,620 (GRCm38) missense probably damaging 1.00
R1521:Pfkfb4 UTSW 9 109,007,305 (GRCm38) missense probably damaging 1.00
R1932:Pfkfb4 UTSW 9 108,999,169 (GRCm38) missense probably damaging 1.00
R2214:Pfkfb4 UTSW 9 109,005,609 (GRCm38) missense probably benign 0.17
R3112:Pfkfb4 UTSW 9 109,025,042 (GRCm38) splice site probably benign
R5470:Pfkfb4 UTSW 9 109,027,593 (GRCm38) missense probably damaging 1.00
R5646:Pfkfb4 UTSW 9 109,008,421 (GRCm38) missense probably damaging 1.00
R5930:Pfkfb4 UTSW 9 109,030,394 (GRCm38) unclassified probably benign
R6139:Pfkfb4 UTSW 9 109,027,757 (GRCm38) missense probably damaging 1.00
R6632:Pfkfb4 UTSW 9 109,009,562 (GRCm38) splice site probably null
R6873:Pfkfb4 UTSW 9 109,010,335 (GRCm38) splice site probably null
R6958:Pfkfb4 UTSW 9 109,010,547 (GRCm38) missense probably damaging 1.00
R7098:Pfkfb4 UTSW 9 108,999,154 (GRCm38) missense probably benign 0.05
R7131:Pfkfb4 UTSW 9 109,007,302 (GRCm38) missense probably benign 0.21
R7148:Pfkfb4 UTSW 9 109,027,608 (GRCm38) missense probably damaging 0.99
R7284:Pfkfb4 UTSW 9 109,011,240 (GRCm38) missense possibly damaging 0.88
R7903:Pfkfb4 UTSW 9 108,998,951 (GRCm38) missense probably damaging 1.00
R7973:Pfkfb4 UTSW 9 109,025,111 (GRCm38) missense probably damaging 1.00
R8506:Pfkfb4 UTSW 9 109,005,599 (GRCm38) missense possibly damaging 0.80
Predicted Primers
Posted On 2014-01-15