Incidental Mutation 'PIT4466001:Pfkfb4'
ID 555791
Institutional Source Beutler Lab
Gene Symbol Pfkfb4
Ensembl Gene ENSMUSG00000025648
Gene Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4466001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108820846-108861296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108828222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 86 (Y86H)
Ref Sequence ENSEMBL: ENSMUSP00000142378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051873] [ENSMUST00000196249] [ENSMUST00000198140] [ENSMUST00000199591]
AlphaFold Q6DTY7
Predicted Effect probably benign
Transcript: ENSMUST00000051873
AA Change: Y70H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: Y70H

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: Y86H

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: Y86H

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 probably damaging
Transcript: ENSMUST00000199591
AA Change: Y86H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: Y86H

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
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.9%
  • 10x: 85.1%
  • 20x: 72.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C A 9: 99,502,613 (GRCm39) P258T probably damaging Het
Adamts1 C A 16: 85,593,579 (GRCm39) G719* probably null Het
Ano5 G T 7: 51,194,599 (GRCm39) D111Y probably damaging Het
Arvcf T C 16: 18,221,699 (GRCm39) V714A possibly damaging Het
AU021092 T A 16: 5,038,253 (GRCm39) S85C probably damaging Het
Capn5 T C 7: 97,773,195 (GRCm39) D603G probably benign Het
Cbr1 T A 16: 93,406,692 (GRCm39) V136E probably damaging Het
Ccdc27 T C 4: 154,126,184 (GRCm39) M102V unknown Het
Ccr1 T C 9: 123,763,765 (GRCm39) Y255C probably damaging Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cep112 A G 11: 108,410,722 (GRCm39) T553A probably benign Het
Chd7 C T 4: 8,753,101 (GRCm39) L533F unknown Het
Cntnap1 T C 11: 101,068,131 (GRCm39) F48L probably benign Het
Cyb5r3 T C 15: 83,046,064 (GRCm39) D84G probably damaging Het
Ddx47 T C 6: 134,992,803 (GRCm39) I154T probably benign Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Dnah6 A G 6: 73,185,624 (GRCm39) L99P probably benign Het
Dzank1 A G 2: 144,325,293 (GRCm39) I558T probably benign Het
Fbn1 T C 2: 125,148,421 (GRCm39) D2609G possibly damaging Het
Fhl5 C A 4: 25,211,194 (GRCm39) C166F probably damaging Het
Fndc1 A G 17: 7,969,206 (GRCm39) L1553P probably damaging Het
Frem1 G A 4: 82,890,374 (GRCm39) T1035I probably benign Het
Gm3099 A G 14: 15,346,517 (GRCm39) M128V probably benign Het
Gpaa1 C T 15: 76,218,940 (GRCm39) T594I probably benign Het
Hck C T 2: 152,966,191 (GRCm39) T55M probably damaging Het
Hectd4 T C 5: 121,471,123 (GRCm39) probably null Het
Ica1l C T 1: 60,054,995 (GRCm39) probably null Het
Ilf3 T C 9: 21,314,662 (GRCm39) Y765H unknown Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Mfsd6 T C 1: 52,748,056 (GRCm39) T270A probably benign Het
Mib1 G A 18: 10,775,541 (GRCm39) D498N probably benign Het
Naaladl1 A T 19: 6,164,663 (GRCm39) T576S possibly damaging Het
Ncoa6 A T 2: 155,247,577 (GRCm39) I1909N probably benign Het
Negr1 A G 3: 156,565,235 (GRCm39) D107G probably benign Het
Nlrc4 A G 17: 74,734,114 (GRCm39) M933T probably benign Het
Nmnat3 T G 9: 98,292,306 (GRCm39) F184V probably benign Het
Or4b12 A T 2: 90,096,639 (GRCm39) V45E probably damaging Het
Or5p81 T C 7: 108,266,743 (GRCm39) V40A possibly damaging Het
Or6c76 C T 10: 129,612,142 (GRCm39) R120C probably benign Het
Or7a42 C A 10: 78,791,676 (GRCm39) F212L probably benign Het
Pgm5 T G 19: 24,801,693 (GRCm39) Q178H probably damaging Het
Phrf1 C T 7: 140,838,725 (GRCm39) T640M unknown Het
Pramel34 A C 5: 93,784,147 (GRCm39) L439R probably damaging Het
Psg18 T G 7: 18,083,241 (GRCm39) T305P probably benign Het
Skil T A 3: 31,152,381 (GRCm39) V301D probably damaging Het
Slc36a1 C A 11: 55,109,895 (GRCm39) P68T probably damaging Het
Smim6 T C 11: 115,804,371 (GRCm39) F53L probably benign Het
Tpgs2 G A 18: 25,301,652 (GRCm39) T5M possibly damaging Het
Trrap T A 5: 144,765,410 (GRCm39) V2523D probably benign Het
Usp9y A T Y: 1,432,197 (GRCm39) D429E probably damaging Het
Vmn1r125 A G 7: 21,006,818 (GRCm39) T239A probably benign Het
Vmn1r168 T C 7: 23,240,421 (GRCm39) F93L probably damaging Het
Vmn1r88 A G 7: 12,912,403 (GRCm39) N253S possibly damaging Het
Zfp644 C T 5: 106,784,343 (GRCm39) A735T probably damaging Het
Other mutations in Pfkfb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Pfkfb4 APN 9 108,828,202 (GRCm39) missense probably damaging 1.00
IGL01978:Pfkfb4 APN 9 108,858,010 (GRCm39) missense probably damaging 1.00
IGL02119:Pfkfb4 APN 9 108,854,178 (GRCm39) missense probably damaging 1.00
IGL02121:Pfkfb4 APN 9 108,854,178 (GRCm39) missense probably damaging 1.00
IGL02122:Pfkfb4 APN 9 108,854,178 (GRCm39) missense probably damaging 1.00
IGL02123:Pfkfb4 APN 9 108,854,178 (GRCm39) missense probably damaging 1.00
IGL02125:Pfkfb4 APN 9 108,854,178 (GRCm39) missense probably damaging 1.00
IGL02126:Pfkfb4 APN 9 108,854,178 (GRCm39) missense probably damaging 1.00
IGL02506:Pfkfb4 APN 9 108,859,404 (GRCm39) missense probably benign 0.00
IGL02881:Pfkfb4 APN 9 108,836,364 (GRCm39) missense probably null 1.00
PIT4472001:Pfkfb4 UTSW 9 108,828,222 (GRCm39) missense probably benign 0.12
R0087:Pfkfb4 UTSW 9 108,836,769 (GRCm39) missense probably damaging 1.00
R0101:Pfkfb4 UTSW 9 108,839,711 (GRCm39) missense probably benign 0.03
R0109:Pfkfb4 UTSW 9 108,827,957 (GRCm39) missense probably benign 0.27
R0109:Pfkfb4 UTSW 9 108,827,957 (GRCm39) missense probably benign 0.27
R0379:Pfkfb4 UTSW 9 108,856,810 (GRCm39) splice site probably benign
R0511:Pfkfb4 UTSW 9 108,856,825 (GRCm39) missense probably damaging 1.00
R1146:Pfkfb4 UTSW 9 108,836,794 (GRCm39) missense probably benign 0.00
R1146:Pfkfb4 UTSW 9 108,836,794 (GRCm39) missense probably benign 0.00
R1490:Pfkfb4 UTSW 9 108,856,688 (GRCm39) missense probably damaging 1.00
R1521:Pfkfb4 UTSW 9 108,836,373 (GRCm39) missense probably damaging 1.00
R1932:Pfkfb4 UTSW 9 108,828,237 (GRCm39) missense probably damaging 1.00
R2214:Pfkfb4 UTSW 9 108,834,677 (GRCm39) missense probably benign 0.17
R3112:Pfkfb4 UTSW 9 108,854,110 (GRCm39) splice site probably benign
R5470:Pfkfb4 UTSW 9 108,856,661 (GRCm39) missense probably damaging 1.00
R5646:Pfkfb4 UTSW 9 108,837,489 (GRCm39) missense probably damaging 1.00
R5930:Pfkfb4 UTSW 9 108,859,462 (GRCm39) unclassified probably benign
R6139:Pfkfb4 UTSW 9 108,856,825 (GRCm39) missense probably damaging 1.00
R6632:Pfkfb4 UTSW 9 108,838,630 (GRCm39) splice site probably null
R6873:Pfkfb4 UTSW 9 108,839,403 (GRCm39) splice site probably null
R6958:Pfkfb4 UTSW 9 108,839,615 (GRCm39) missense probably damaging 1.00
R7098:Pfkfb4 UTSW 9 108,828,222 (GRCm39) missense probably benign 0.05
R7131:Pfkfb4 UTSW 9 108,836,370 (GRCm39) missense probably benign 0.21
R7148:Pfkfb4 UTSW 9 108,856,676 (GRCm39) missense probably damaging 0.99
R7284:Pfkfb4 UTSW 9 108,840,308 (GRCm39) missense possibly damaging 0.88
R7903:Pfkfb4 UTSW 9 108,828,019 (GRCm39) missense probably damaging 1.00
R7973:Pfkfb4 UTSW 9 108,854,179 (GRCm39) missense probably damaging 1.00
R8506:Pfkfb4 UTSW 9 108,834,667 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- AACTGGATTGGCGTGCCTAC -3'
(R):5'- TCACTGCACTGAGTAACTGCAG -3'

Sequencing Primer
(F):5'- ATTGGCGTGCCTACTCGGG -3'
(R):5'- GAGAGAGGAGGAACTTCTT -3'
Posted On 2019-06-07