Incidental Mutation 'R3688:Pfkm'
ID 269641
Institutional Source Beutler Lab
Gene Symbol Pfkm
Ensembl Gene ENSMUSG00000033065
Gene Name phosphofructokinase, muscle
Synonyms PFK-A, Pfk4, Pfk-4, Pfkx, PFK-M
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R3688 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 97990470-98030328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98029398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 697 (N697K)
Ref Sequence ENSEMBL: ENSMUSP00000155809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051226] [ENSMUST00000059112] [ENSMUST00000123626] [ENSMUST00000123922] [ENSMUST00000143400] [ENSMUST00000163507] [ENSMUST00000230445]
AlphaFold P47857
Predicted Effect probably benign
Transcript: ENSMUST00000051226
AA Change: N697K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: N697K

DomainStartEndE-ValueType
Pfam:PFK 17 324 1.3e-111 PFAM
Pfam:PFK 402 687 1e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059112
SMART Domains Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123626
SMART Domains Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123922
SMART Domains Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143400
SMART Domains Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175

DomainStartEndE-ValueType
Blast:ANK 20 49 5e-13 BLAST
ANK 52 81 4.5e-3 SMART
ANK 85 113 1.22e-4 SMART
ANK 117 146 1.81e-7 SMART
ANK 150 179 2.45e-4 SMART
SOCS_box 247 287 2.08e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163507
AA Change: N697K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: N697K

DomainStartEndE-ValueType
Pfam:PFK 16 326 2.9e-138 PFAM
Pfam:PFK 401 688 1.8e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230445
AA Change: N697K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,415,968 (GRCm39) I687T possibly damaging Het
A1cf T A 19: 31,888,569 (GRCm39) F100I probably damaging Het
Adam12 A T 7: 133,566,525 (GRCm39) Y308* probably null Het
Adam3 T C 8: 25,193,864 (GRCm39) T383A probably benign Het
Adcy8 T C 15: 64,743,556 (GRCm39) T351A probably damaging Het
Atp11c T C X: 59,327,004 (GRCm39) Y431C probably benign Het
Atp7b T C 8: 22,494,246 (GRCm39) H956R probably damaging Het
Bptf C A 11: 106,965,024 (GRCm39) R1275L probably benign Het
Cept1 G T 3: 106,427,331 (GRCm39) N236K probably benign Het
Col15a1 C T 4: 47,258,689 (GRCm39) T360I probably benign Het
Efcab6 G A 15: 83,755,479 (GRCm39) Q1323* probably null Het
Efl1 T A 7: 82,412,178 (GRCm39) S856T probably benign Het
Eftud2 T C 11: 102,735,027 (GRCm39) E624G probably damaging Het
Fat2 T C 11: 55,171,927 (GRCm39) T2929A probably damaging Het
Gm4884 A G 7: 40,692,910 (GRCm39) H293R possibly damaging Het
Hdac10 C T 15: 89,007,767 (GRCm39) probably null Het
Il17rd C A 14: 26,761,105 (GRCm39) N15K probably null Het
Kcnt1 C T 2: 25,784,371 (GRCm39) T258I probably damaging Het
Kif5a T G 10: 127,078,643 (GRCm39) N334T probably damaging Het
Ksr2 A G 5: 117,693,044 (GRCm39) Q164R probably damaging Het
Map4k4 T A 1: 40,024,331 (GRCm39) probably null Het
Naa80 T C 9: 107,460,549 (GRCm39) V148A possibly damaging Het
Or9a2 G T 6: 41,749,160 (GRCm39) Y24* probably null Het
Pard3b A G 1: 62,518,728 (GRCm39) T938A probably benign Het
Pcdhga6 T A 18: 37,841,594 (GRCm39) I438N probably damaging Het
Prr23a4 A T 9: 98,785,517 (GRCm39) M61L probably benign Het
Pus10 T C 11: 23,617,334 (GRCm39) F16L probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rangap1 A T 15: 81,602,963 (GRCm39) M154K possibly damaging Het
Slc25a17 A G 15: 81,211,485 (GRCm39) F177S probably benign Het
Slc34a2 G A 5: 53,222,174 (GRCm39) G289S probably benign Het
Strn4 A G 7: 16,556,506 (GRCm39) Y123C probably damaging Het
Swt1 A T 1: 151,267,240 (GRCm39) M647K probably damaging Het
Trpm5 A G 7: 142,632,193 (GRCm39) V872A probably damaging Het
Ubqln4 T C 3: 88,470,466 (GRCm39) S313P probably damaging Het
Vmn1r17 T A 6: 57,337,544 (GRCm39) T225S probably damaging Het
Vmn2r75 T A 7: 85,797,629 (GRCm39) H728L probably damaging Het
Vps33a T C 5: 123,673,274 (GRCm39) probably null Het
Vwde T A 6: 13,186,891 (GRCm39) R865S probably damaging Het
Zfp408 T A 2: 91,476,777 (GRCm39) M126L 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
R1886:Pfkm UTSW 15 98,025,627 (GRCm39) missense probably damaging 1.00
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
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'- TTCAGTGTCTCGGAGTGTCC -3'
(R):5'- GCTCAGTTACTGGCTGAAAGAC -3'

Sequencing Primer
(F):5'- TTCCGTCCTGTAAACCCAAGG -3'
(R):5'- TGAAAGACCAGGGCCCTCTTAC -3'
Posted On 2015-02-19