Incidental Mutation 'IGL02121:Pfkfb4'
ID 280602
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 # IGL02121
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik A T 13: 97,022,530 V122D unknown Het
4930579F01Rik T G 3: 138,164,373 Y199S possibly damaging Het
Abca6 T A 11: 110,182,924 I1434F probably benign Het
Acsm1 T C 7: 119,658,412 V467A possibly damaging Het
Alg3 T C 16: 20,606,535 T260A possibly damaging Het
Aoc1 A G 6: 48,906,320 probably null Het
Ap5b1 C T 19: 5,570,787 T745I possibly damaging Het
Atp6v1c2 T G 12: 17,291,440 K272Q possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Clcn7 C T 17: 25,153,084 A426V possibly damaging Het
Clec14a T C 12: 58,268,437 E133G probably damaging Het
Col4a3bp T G 13: 96,599,474 Y181D probably benign Het
Diexf A T 1: 193,118,278 D411E probably benign Het
Dst T A 1: 34,228,657 V2720E probably damaging Het
Efr3a C T 15: 65,871,150 probably benign Het
Fam83g T C 11: 61,684,783 S84P probably benign Het
Gm10436 T C 12: 88,178,472 D28G possibly damaging Het
Gm7251 T C 13: 49,805,906 noncoding transcript Het
Gnptab T G 10: 88,429,461 S312A possibly damaging Het
Grap2 C A 15: 80,647,875 S230R possibly damaging Het
Grm6 T A 11: 50,859,656 C549S probably damaging Het
Gtf3c1 A T 7: 125,646,731 L1504* probably null Het
Iars A G 13: 49,724,696 M899V probably benign Het
Il1rl1 T A 1: 40,442,303 probably benign Het
Kcna4 T C 2: 107,296,618 Y566H possibly damaging Het
Kcnn2 T C 18: 45,561,273 I175T probably damaging Het
Kcnt1 C T 2: 25,901,865 T609I probably damaging Het
Kif3b A G 2: 153,317,274 R332G probably damaging Het
Mansc1 T C 6: 134,621,837 D39G probably damaging Het
Med12 T C X: 101,288,342 probably benign Het
Mmp1b G T 9: 7,384,935 T238K probably benign Het
Nav3 A G 10: 109,759,036 S1435P probably damaging Het
Npc1l1 A G 11: 6,228,157 S418P probably benign Het
Olfr125 T C 17: 37,835,941 V314A probably benign Het
Olfr324 T C 11: 58,597,582 V62A possibly damaging Het
Olfr401 A G 11: 74,121,287 probably benign Het
Olfr522 G T 7: 140,162,694 D85E probably benign Het
Olfr628 A G 7: 103,732,469 Y181C probably damaging Het
Olfr648 A C 7: 104,180,225 M61R probably damaging Het
Olfr918 T C 9: 38,673,415 T23A probably damaging Het
Otoa A G 7: 121,122,024 T421A probably benign Het
Otulin G A 15: 27,608,737 A42V probably damaging Het
Pcdhb1 T A 18: 37,265,785 V263E probably benign Het
Phip A T 9: 82,893,370 V1053D probably damaging Het
Pkd1 G A 17: 24,575,927 R2196H probably benign Het
Plin4 T A 17: 56,102,131 Q1363L probably damaging Het
Pp2d1 C A 17: 53,507,921 V592L probably damaging Het
Prkdc T G 16: 15,717,184 M1649R probably benign Het
Ptk2b T C 14: 66,213,482 K12E probably benign Het
Rars2 G A 4: 34,657,219 V522I probably damaging Het
Rpgrip1 T A 14: 52,147,374 N646K possibly damaging Het
Sars2 A G 7: 28,752,525 probably benign Het
Sgo2b T C 8: 63,931,282 T227A possibly damaging Het
Smc1b T C 15: 85,097,985 T703A probably benign Het
Stk32a G T 18: 43,313,507 D341Y probably benign Het
Thap11 T C 8: 105,855,914 V185A possibly damaging Het
Ttll10 C A 4: 156,048,433 V65F probably benign Het
Ube2q1 T A 3: 89,780,462 N111K possibly damaging Het
Upf2 C A 2: 6,026,323 probably benign Het
Vasp T A 7: 19,257,712 probably benign Het
Vmn2r104 C T 17: 20,041,794 W358* probably null Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wdfy3 C T 5: 101,898,510 G1826R possibly damaging Het
Wdr7 T A 18: 63,777,545 Y669* probably null Het
Wdr72 T A 9: 74,281,729 probably benign 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
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
IGL02126: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