Incidental Mutation 'R0524:Pfkm'
ID 48806
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 038717-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R0524 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 97990470-98030328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98029488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 700 (I700V)
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: I700V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: I700V

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: I700V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: I700V

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: I700V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.4%
  • 20x: 92.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 1: 180,574,624 (GRCm39) probably benign Het
Adamts16 T C 13: 70,949,013 (GRCm39) E216G probably benign Het
Aoc3 C A 11: 101,228,337 (GRCm39) P715T probably damaging Het
Bnipl T C 3: 95,157,140 (GRCm39) D33G probably benign Het
Celsr2 T C 3: 108,308,903 (GRCm39) H1701R probably damaging Het
Clca3b T A 3: 144,531,082 (GRCm39) H756L probably benign Het
Clca4a A G 3: 144,675,154 (GRCm39) W159R probably damaging Het
Ddx49 A T 8: 70,749,574 (GRCm39) I252N probably damaging Het
Duox2 T C 2: 122,112,317 (GRCm39) T1290A possibly damaging Het
Fam111a T A 19: 12,565,412 (GRCm39) I431K probably damaging Het
Fam135b A T 15: 71,334,133 (GRCm39) D1020E probably benign Het
Flii A G 11: 60,610,887 (GRCm39) V514A probably damaging Het
Frmpd1 A G 4: 45,283,774 (GRCm39) D865G probably benign Het
Frmpd1 G A 4: 45,256,902 (GRCm39) V157M probably damaging Het
Gsr G A 8: 34,159,208 (GRCm39) probably null Het
H1f11-ps T A 19: 47,158,933 (GRCm39) K214M unknown Het
Hps3 A T 3: 20,066,940 (GRCm39) V542E probably damaging Het
Kcnj5 A G 9: 32,234,270 (GRCm39) I15T probably benign Het
Kif2b T C 11: 91,466,550 (GRCm39) R578G probably benign Het
Lamb2 A G 9: 108,361,571 (GRCm39) R676G possibly damaging Het
Mrpl40 A G 16: 18,692,302 (GRCm39) F94S possibly damaging Het
Myo7b C T 18: 32,146,477 (GRCm39) V103M possibly damaging Het
Nmt2 T A 2: 3,306,474 (GRCm39) W69R probably benign Het
Nsd3 C A 8: 26,190,605 (GRCm39) Q1130K possibly damaging Het
Olfml1 T C 7: 107,189,384 (GRCm39) S150P probably damaging Het
Or2g1 A T 17: 38,106,496 (GRCm39) K54* probably null Het
Or5b116 A G 19: 13,423,228 (GRCm39) N284S probably damaging Het
Pask A T 1: 93,238,556 (GRCm39) W1310R probably damaging Het
Pcdh18 T C 3: 49,710,091 (GRCm39) Q408R probably damaging Het
Pias1 A G 9: 62,859,460 (GRCm39) V16A probably damaging Het
Pnpla8 C T 12: 44,330,401 (GRCm39) Q318* probably null Het
Ppp1cc C T 5: 122,310,833 (GRCm39) R142* probably null Het
Pygl T A 12: 70,254,498 (GRCm39) N149I probably damaging Het
Rapgef6 T A 11: 54,581,110 (GRCm39) S1285T probably benign Het
Rdh13 A C 7: 4,447,296 (GRCm39) C10W probably damaging Het
Rgr A T 14: 36,760,252 (GRCm39) C273S probably benign Het
Ripk4 G T 16: 97,556,487 (GRCm39) Y22* probably null Het
Slc34a2 G A 5: 53,222,215 (GRCm39) W302* probably null Het
Smarce1 G A 11: 99,104,888 (GRCm39) T263M probably damaging Het
Sypl1 C T 12: 33,017,564 (GRCm39) P94L possibly damaging Het
Tet3 A G 6: 83,356,924 (GRCm39) I878T probably damaging Het
Tmem232 A G 17: 65,792,937 (GRCm39) S87P probably damaging Het
Tmem260 A G 14: 48,709,935 (GRCm39) T163A probably benign Het
Ttn T C 2: 76,555,796 (GRCm39) Y30403C probably damaging Het
Ubash3b A T 9: 40,927,904 (GRCm39) M468K probably benign Het
Ulk4 A G 9: 121,081,717 (GRCm39) probably null Het
Vmn1r72 A G 7: 11,403,719 (GRCm39) F243S probably benign Het
Wrap73 A G 4: 154,229,764 (GRCm39) Y45C probably damaging Het
Zfp704 T C 3: 9,674,424 (GRCm39) D119G unknown Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null 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
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
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'- TGGAAGCCCAACTCCCTTTGACAG -3'
(R):5'- AGGATTTTGAGGATTGGCCTCAGC -3'

Sequencing Primer
(F):5'- CAGGAATTTTGCCACTAAGATGG -3'
(R):5'- AGGATTGGCCTCAGCTTCAG -3'
Posted On 2013-06-12