Incidental Mutation 'IGL02126:Pfkfb4'
ID 280856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pfkfb4
Ensembl Gene ENSMUSG00000025648
Gene Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02126
Quality Score
Status
Chromosome 9
Chromosomal Location 108991778-109032228 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109025110 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 351 (R351W)
Ref Sequence ENSEMBL: ENSMUSP00000142992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051873] [ENSMUST00000196249] [ENSMUST00000198140] [ENSMUST00000199591]
AlphaFold Q6DTY7
Predicted Effect probably damaging
Transcript: ENSMUST00000051873
AA Change: R335W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057197
Gene: ENSMUSG00000025648
AA Change: R335W

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 damaging
Transcript: ENSMUST00000198140
AA Change: R351W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142378
Gene: ENSMUSG00000025648
AA Change: R351W

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: ENSMUST00000198763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199184
Predicted Effect probably damaging
Transcript: ENSMUST00000199591
AA Change: R351W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142992
Gene: ENSMUSG00000025648
AA Change: R351W

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 unknown
Transcript: ENSMUST00000200015
AA Change: R61W
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,139,856 V365M probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Angptl3 T C 4: 99,031,501 probably null Het
Atoh1 T C 6: 64,729,350 W10R probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Ccm2 A G 11: 6,594,154 T317A probably damaging Het
Ccnt1 A T 15: 98,567,603 W12R probably damaging Het
Celf1 T A 2: 91,001,063 L79H probably damaging Het
Cmip T C 8: 117,449,031 V423A probably damaging Het
Ddr1 T A 17: 35,688,589 I431F probably damaging Het
Dnah6 A G 6: 73,103,166 L2343P probably benign Het
Duox1 A G 2: 122,346,336 D1446G probably benign Het
Erich3 A G 3: 154,713,962 H231R possibly damaging Het
Fam221b T A 4: 43,666,450 I54F probably benign Het
Galntl5 T C 5: 25,189,841 F69L possibly damaging Het
Gba2 T G 4: 43,567,918 probably null Het
Gbf1 C A 19: 46,252,117 P46Q probably damaging Het
Gimap6 T G 6: 48,702,701 S134R probably damaging Het
Gm5424 A C 10: 62,071,598 noncoding transcript Het
Gm5724 T A 6: 141,739,013 T239S probably benign Het
Hexb T C 13: 97,178,024 K404E possibly damaging Het
Hs3st3a1 G A 11: 64,436,505 V147M probably damaging Het
Hsd17b4 T C 18: 50,181,996 V610A probably benign Het
Loxl3 T A 6: 83,048,647 W329R probably damaging Het
Lrrc52 A G 1: 167,446,006 F247S probably damaging Het
Naa38 C T 11: 69,396,219 R42W probably damaging Het
Nadsyn1 G A 7: 143,804,016 Q485* probably null Het
Nid1 A G 13: 13,489,158 probably null Het
Ofcc1 T C 13: 40,208,775 T224A probably benign Het
Olfr1029 T G 2: 85,976,173 I310S probably benign Het
Palld A G 8: 61,877,442 Y134H possibly damaging Het
Pfn3 T C 13: 55,414,886 D94G possibly damaging Het
Pkhd1 G A 1: 20,117,195 R3630C probably damaging Het
Por T A 5: 135,715,975 F31I probably benign Het
Ppp1r12c T C 7: 4,489,859 E127G probably benign Het
Ppp1r9a T A 6: 5,156,229 S1162T probably damaging Het
Psen2 C A 1: 180,229,923 A297S probably benign Het
Rpusd2 G A 2: 119,038,638 R514Q probably damaging Het
Rxrg A G 1: 167,634,460 M235V probably damaging Het
Sash1 T C 10: 8,739,465 M644V probably damaging Het
Sf3b3 T C 8: 110,823,443 T648A probably benign Het
Ssu72 T C 4: 155,732,026 I155T probably benign Het
Tas2r102 A G 6: 132,762,644 R172G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trav12-2 C A 14: 53,616,402 N2K probably damaging Het
Tyrp1 C T 4: 80,837,608 Q205* probably null Het
Ubr4 T A 4: 139,452,741 probably null Het
Ush2a A G 1: 188,263,391 S120G probably benign Het
Vmn2r100 T C 17: 19,521,242 probably benign Het
Zer1 G T 2: 30,104,916 T489K probably benign Het
Zfp955b G T 17: 33,302,264 G236* probably null Het
Other mutations in Pfkfb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Pfkfb4 APN 9 108999134 missense probably damaging 1.00
IGL01978:Pfkfb4 APN 9 109028942 missense probably damaging 1.00
IGL02119:Pfkfb4 APN 9 109025110 missense probably damaging 1.00
IGL02121:Pfkfb4 APN 9 109025110 missense probably damaging 1.00
IGL02122:Pfkfb4 APN 9 109025110 missense probably damaging 1.00
IGL02123:Pfkfb4 APN 9 109025110 missense probably damaging 1.00
IGL02125:Pfkfb4 APN 9 109025110 missense probably damaging 1.00
IGL02506:Pfkfb4 APN 9 109030336 missense probably benign 0.00
IGL02881:Pfkfb4 APN 9 109007296 missense probably null 1.00
PIT4466001:Pfkfb4 UTSW 9 108999154 missense probably benign 0.12
PIT4472001:Pfkfb4 UTSW 9 108999154 missense probably benign 0.12
R0087:Pfkfb4 UTSW 9 109007701 missense probably damaging 1.00
R0101:Pfkfb4 UTSW 9 109010643 missense probably benign 0.03
R0109:Pfkfb4 UTSW 9 108998889 missense probably benign 0.27
R0109:Pfkfb4 UTSW 9 108998889 missense probably benign 0.27
R0379:Pfkfb4 UTSW 9 109027742 splice site probably benign
R0511:Pfkfb4 UTSW 9 109027757 missense probably damaging 1.00
R1146:Pfkfb4 UTSW 9 109007726 missense probably benign 0.00
R1146:Pfkfb4 UTSW 9 109007726 missense probably benign 0.00
R1490:Pfkfb4 UTSW 9 109027620 missense probably damaging 1.00
R1521:Pfkfb4 UTSW 9 109007305 missense probably damaging 1.00
R1932:Pfkfb4 UTSW 9 108999169 missense probably damaging 1.00
R2214:Pfkfb4 UTSW 9 109005609 missense probably benign 0.17
R3112:Pfkfb4 UTSW 9 109025042 splice site probably benign
R5470:Pfkfb4 UTSW 9 109027593 missense probably damaging 1.00
R5646:Pfkfb4 UTSW 9 109008421 missense probably damaging 1.00
R5930:Pfkfb4 UTSW 9 109030394 unclassified probably benign
R6139:Pfkfb4 UTSW 9 109027757 missense probably damaging 1.00
R6632:Pfkfb4 UTSW 9 109009562 splice site probably null
R6873:Pfkfb4 UTSW 9 109010335 splice site probably null
R6958:Pfkfb4 UTSW 9 109010547 missense probably damaging 1.00
R7098:Pfkfb4 UTSW 9 108999154 missense probably benign 0.05
R7131:Pfkfb4 UTSW 9 109007302 missense probably benign 0.21
R7148:Pfkfb4 UTSW 9 109027608 missense probably damaging 0.99
R7284:Pfkfb4 UTSW 9 109011240 missense possibly damaging 0.88
R7903:Pfkfb4 UTSW 9 108998951 missense probably damaging 1.00
R7973:Pfkfb4 UTSW 9 109025111 missense probably damaging 1.00
R8506:Pfkfb4 UTSW 9 109005599 missense possibly damaging 0.80
Posted On 2015-04-16