Incidental Mutation 'R1886:Pfkm'
ID 209593
Institutional Source Beutler Lab
Gene Symbol Pfkm
Ensembl Gene ENSMUSG00000033065
Gene Name phosphofructokinase, muscle
Synonyms PFK-A, Pfk4, Pfk-4, Pfkx, PFK-M
MMRRC Submission 039907-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R1886 (G1)
Quality Score 167
Status Not validated
Chromosome 15
Chromosomal Location 97990470-98030328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98025627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 547 (N547S)
Ref Sequence ENSEMBL: ENSMUSP00000155809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051226] [ENSMUST00000163507] [ENSMUST00000230445]
AlphaFold P47857
Predicted Effect probably damaging
Transcript: ENSMUST00000051226
AA Change: N547S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: N547S

DomainStartEndE-ValueType
Pfam:PFK 17 324 1.3e-111 PFAM
Pfam:PFK 402 687 1e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163507
AA Change: N547S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: N547S

DomainStartEndE-ValueType
Pfam:PFK 16 326 2.9e-138 PFAM
Pfam:PFK 401 688 1.8e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000230445
AA Change: N547S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.2%
  • 3x: 96.2%
  • 10x: 93.1%
  • 20x: 85.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal glucose homeostasis. Mice homozygous for a knock-out allele exhibit premature death, exercise intolerance, abnormal glucose homeostasis, cardiomegaly, splenomegaly, and abnormal muscle morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
Aarsd1 T C 11: 101,302,227 (GRCm39) T278A probably benign Het
Acacb T A 5: 114,357,020 (GRCm39) L1317Q probably damaging Het
Acsf3 T C 8: 123,510,741 (GRCm39) V293A probably damaging Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Aen A T 7: 78,557,073 (GRCm39) D307V probably damaging Het
Ahnak G A 19: 8,993,343 (GRCm39) D4876N probably damaging Het
Ap2b1 T A 11: 83,281,561 (GRCm39) N822K probably damaging Het
Arhgdia T C 11: 120,470,244 (GRCm39) D143G probably benign Het
Bcl9 G T 3: 97,122,713 (GRCm39) R29S probably benign Het
Bhmt2 T A 13: 93,798,998 (GRCm39) K274N probably benign Het
Brip1 C A 11: 86,029,641 (GRCm39) G631V probably damaging Het
Cacna1i A G 15: 80,243,145 (GRCm39) E434G probably damaging Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cfap299 A G 5: 98,949,690 (GRCm39) N208S probably benign Het
Cit A G 5: 116,071,545 (GRCm39) Y584C probably damaging Het
Crebl2 T C 6: 134,828,059 (GRCm39) M77T probably benign Het
Dach2 G A X: 112,208,305 (GRCm39) G61D probably benign Het
Ddx4 A T 13: 112,759,199 (GRCm39) D237E probably damaging Het
Dgcr8 A G 16: 18,096,218 (GRCm39) I490T possibly damaging Het
Dmxl1 G A 18: 49,992,202 (GRCm39) R316H probably benign Het
Dnah17 T A 11: 117,998,987 (GRCm39) I929F possibly damaging Het
Eif3f A G 7: 108,539,958 (GRCm39) T289A probably benign Het
Ercc5 A T 1: 44,215,136 (GRCm39) K890* probably null Het
Esrp2 A T 8: 106,860,489 (GRCm39) V247E probably damaging Het
Evpl C T 11: 116,118,402 (GRCm39) G735E probably damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fbxl21 A G 13: 56,674,906 (GRCm39) I60V probably benign Het
Frem3 A G 8: 81,340,514 (GRCm39) I936V probably benign Het
Fsd1l T C 4: 53,696,984 (GRCm39) probably null Het
Gad1-ps T C 10: 99,281,444 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,314,063 (GRCm39) T448A probably benign Het
Gfus G T 15: 75,798,838 (GRCm39) T123N possibly damaging Het
Gmppa T C 1: 75,419,152 (GRCm39) V353A probably damaging Het
Hmcn1 T C 1: 150,453,046 (GRCm39) E5423G probably benign Het
Hmgxb3 A G 18: 61,270,473 (GRCm39) probably null Het
Krt12 T C 11: 99,309,402 (GRCm39) D286G probably damaging Het
Krt75 A T 15: 101,479,532 (GRCm39) M266K probably damaging Het
Ksr1 C A 11: 78,911,204 (GRCm39) V11F probably null Het
Lag3 T C 6: 124,886,402 (GRCm39) N184D probably damaging Het
Lsm10 C G 4: 125,991,741 (GRCm39) D32E probably benign Het
Mettl5 A G 2: 69,711,149 (GRCm39) V123A probably damaging Het
Mfrp A G 9: 44,014,785 (GRCm39) D274G possibly damaging Het
Mgat3 A G 15: 80,095,820 (GRCm39) I216V probably benign Het
Mkrn3 G A 7: 62,068,486 (GRCm39) A435V probably benign Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Mplkipl1 A G 19: 61,164,136 (GRCm39) F100L probably damaging Het
Mttp A T 3: 137,798,376 (GRCm39) V840D probably damaging Het
Nadk2 A C 15: 9,103,446 (GRCm39) N308H possibly damaging Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nlk T A 11: 78,477,754 (GRCm39) I330F probably damaging Het
Ofcc1 T C 13: 40,360,100 (GRCm39) S310G possibly damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or5p73 A T 7: 108,064,947 (GRCm39) M139L probably benign Het
Orc2 T C 1: 58,510,247 (GRCm39) probably null Het
Orc3 A G 4: 34,584,829 (GRCm39) Y459H probably damaging Het
Pah T A 10: 87,364,190 (GRCm39) N30K possibly damaging Het
Pcsk4 T C 10: 80,164,794 (GRCm39) K74E probably benign Het
Pdlim7 C T 13: 55,653,981 (GRCm39) G212D probably benign Het
Por A G 5: 135,763,128 (GRCm39) E546G probably damaging Het
Ppp1r13l T C 7: 19,111,496 (GRCm39) S774P probably damaging Het
Prdm1 T A 10: 44,315,754 (GRCm39) D794V probably damaging Het
Prdx5 A G 19: 6,885,558 (GRCm39) I32T probably benign Het
Prlhr G T 19: 60,455,932 (GRCm39) C211* probably null Het
Ripk3 C T 14: 56,025,694 (GRCm39) probably null Het
Rmnd5b G A 11: 51,518,465 (GRCm39) A137V probably damaging Het
Rwdd2b A T 16: 87,234,013 (GRCm39) F72I probably benign Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Septin1 A G 7: 126,813,937 (GRCm39) probably benign Het
Serpinb9h C T 13: 33,588,203 (GRCm39) R263C possibly damaging Het
Slc30a10 T A 1: 185,195,061 (GRCm39) I291N probably damaging Het
Slc7a9 T G 7: 35,152,827 (GRCm39) C20W possibly damaging Het
Slc7a9 G C 7: 35,152,828 (GRCm39) A21P probably damaging Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Sra1 T C 18: 36,801,830 (GRCm39) M87V probably benign Het
Syvn1 T C 19: 6,099,257 (GRCm39) S169P possibly damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Tmem62 A T 2: 120,817,151 (GRCm39) I236F probably damaging Het
Trip4 T A 9: 65,782,163 (GRCm39) I190F probably null Het
Trpa1 T C 1: 14,959,649 (GRCm39) D679G probably benign Het
Ttc22 T A 4: 106,494,063 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tyrp1 T A 4: 80,759,043 (GRCm39) probably null Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Usp36 A T 11: 118,163,784 (GRCm39) Y255N probably damaging Het
Zfp944 A T 17: 22,558,960 (GRCm39) Y96N probably benign Het
Other mutations in Pfkm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Pfkm APN 15 98,023,475 (GRCm39) missense probably benign 0.00
IGL01843:Pfkm APN 15 98,027,187 (GRCm39) missense possibly damaging 0.65
IGL02090:Pfkm APN 15 98,021,121 (GRCm39) critical splice donor site probably null
IGL02624:Pfkm APN 15 98,024,276 (GRCm39) missense probably benign 0.03
IGL02869:Pfkm APN 15 98,026,123 (GRCm39) missense probably damaging 1.00
IGL03102:Pfkm APN 15 98,024,266 (GRCm39) missense possibly damaging 0.86
IGL03164:Pfkm APN 15 98,029,843 (GRCm39) missense probably damaging 1.00
IGL03188:Pfkm APN 15 98,021,124 (GRCm39) splice site probably null
IGL03241:Pfkm APN 15 98,021,061 (GRCm39) missense probably benign 0.02
E0374:Pfkm UTSW 15 98,021,114 (GRCm39) missense probably damaging 1.00
R0379:Pfkm UTSW 15 98,024,195 (GRCm39) missense probably benign 0.01
R0524:Pfkm UTSW 15 98,029,488 (GRCm39) missense probably benign
R0898:Pfkm UTSW 15 98,026,111 (GRCm39) missense probably benign 0.09
R1086:Pfkm UTSW 15 98,029,546 (GRCm39) missense probably benign 0.05
R1698:Pfkm UTSW 15 98,026,199 (GRCm39) missense possibly damaging 0.95
R2051:Pfkm UTSW 15 98,029,573 (GRCm39) missense probably benign 0.03
R2102:Pfkm UTSW 15 98,027,171 (GRCm39) missense probably damaging 1.00
R2312:Pfkm UTSW 15 98,023,456 (GRCm39) missense probably damaging 1.00
R3154:Pfkm UTSW 15 98,016,090 (GRCm39) missense probably damaging 1.00
R3688:Pfkm UTSW 15 98,029,398 (GRCm39) missense probably benign 0.00
R3911:Pfkm UTSW 15 98,022,928 (GRCm39) missense probably benign 0.02
R4999:Pfkm UTSW 15 98,026,123 (GRCm39) missense probably damaging 1.00
R5008:Pfkm UTSW 15 98,020,570 (GRCm39) missense probably benign 0.35
R5027:Pfkm UTSW 15 98,017,307 (GRCm39) missense possibly damaging 0.55
R5178:Pfkm UTSW 15 98,029,396 (GRCm39) missense probably benign
R5617:Pfkm UTSW 15 98,020,107 (GRCm39) missense possibly damaging 0.88
R5891:Pfkm UTSW 15 98,020,571 (GRCm39) nonsense probably null
R6248:Pfkm UTSW 15 98,024,260 (GRCm39) missense probably damaging 1.00
R7079:Pfkm UTSW 15 97,992,963 (GRCm39) missense probably benign 0.31
R7605:Pfkm UTSW 15 98,019,191 (GRCm39) missense probably damaging 1.00
R7979:Pfkm UTSW 15 98,026,117 (GRCm39) missense probably damaging 1.00
R8482:Pfkm UTSW 15 98,029,864 (GRCm39) missense probably benign 0.05
R9065:Pfkm UTSW 15 98,021,680 (GRCm39) missense probably damaging 0.96
R9178:Pfkm UTSW 15 98,027,161 (GRCm39) missense probably damaging 1.00
R9221:Pfkm UTSW 15 98,019,188 (GRCm39) missense probably damaging 1.00
RF010:Pfkm UTSW 15 98,027,674 (GRCm39) missense possibly damaging 0.78
X0020:Pfkm UTSW 15 98,010,107 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGAGTATCCCAGCATTTCCTC -3'
(R):5'- AGGGCCCTTGGATAGCAATG -3'

Sequencing Primer
(F):5'- GAGTATCCCAGCATTTCCTCCTCTC -3'
(R):5'- GCCCTTGGATAGCAATGATATATTTC -3'
Posted On 2014-06-30