Incidental Mutation 'R6248:Pfkm'
ID 505640
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 # R6248 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 97990470-98030328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98024260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 423 (V423M)
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: V423M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
AA Change: V423M

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: V423M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
AA Change: V423M

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: V423M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9037 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (92/92)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,978 (GRCm39) S83P possibly damaging Het
Actr10 A T 12: 70,999,733 (GRCm39) E176D probably benign Het
Adcy3 G A 12: 4,258,662 (GRCm39) probably null Het
AI429214 T A 8: 37,461,278 (GRCm39) I142N probably damaging Het
Alox12 A G 11: 70,143,936 (GRCm39) L148S probably damaging Het
Ank3 A G 10: 69,809,680 (GRCm39) I1147V probably benign Het
Apoc2 C T 7: 19,407,493 (GRCm39) V12I probably benign Het
Arap3 T C 18: 38,124,407 (GRCm39) S311G probably benign Het
Arih2 G T 9: 108,488,841 (GRCm39) H292Q probably damaging Het
Cdc14a A T 3: 116,101,843 (GRCm39) D312E probably benign Het
Cdh12 T G 15: 21,237,800 (GRCm39) W12G possibly damaging Het
Cisd2 A T 3: 135,114,616 (GRCm39) N118K probably damaging Het
Cntnap5b A G 1: 99,999,827 (GRCm39) Q195R probably benign Het
Cyp2r1 A G 7: 114,161,966 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 T A 2: 180,302,048 (GRCm39) H1952L probably damaging Het
Dnah10 T A 5: 124,871,283 (GRCm39) probably null Het
Dnal4 T A 15: 79,646,714 (GRCm39) M56L probably damaging Het
Emilin2 A G 17: 71,581,112 (GRCm39) V538A probably benign Het
Eps8l2 A G 7: 140,922,015 (GRCm39) D31G probably damaging Het
Erp44 A T 4: 48,219,479 (GRCm39) L112* probably null Het
Etl4 C T 2: 20,813,900 (GRCm39) T1907I possibly damaging Het
Exoc3 A G 13: 74,330,400 (GRCm39) F510L probably benign Het
Fam114a2 G T 11: 57,383,942 (GRCm39) T324K possibly damaging Het
Fer1l4 G A 2: 155,888,091 (GRCm39) R465C probably damaging Het
Frmd4b A C 6: 97,436,173 (GRCm39) S2R probably benign Het
Fscn1 A T 5: 142,946,778 (GRCm39) D192V possibly damaging Het
Gm3486 T A 14: 41,206,472 (GRCm39) *200C probably null Het
Gusb A T 5: 130,029,366 (GRCm39) H138Q probably benign Het
Hdac9 A T 12: 34,578,293 (GRCm39) M4K possibly damaging Het
Hhipl1 G T 12: 108,284,964 (GRCm39) R439L probably benign Het
Hoxd9 A G 2: 74,528,980 (GRCm39) E194G probably benign Het
Itgb1 A G 8: 129,448,902 (GRCm39) S503G possibly damaging Het
Kcnt2 T A 1: 140,437,216 (GRCm39) C500S probably damaging Het
Kdm7a G A 6: 39,123,983 (GRCm39) S727L possibly damaging Het
Klhdc4 A G 8: 122,540,507 (GRCm39) F92L probably damaging Het
Klrb1a A G 6: 128,596,137 (GRCm39) V62A probably damaging Het
Krit1 A G 5: 3,863,032 (GRCm39) probably null Het
Krt40 A G 11: 99,432,566 (GRCm39) I150T possibly damaging Het
Larp4b A G 13: 9,208,738 (GRCm39) T464A probably benign Het
Lrrc52 T G 1: 167,293,964 (GRCm39) D107A probably damaging Het
Mapkap1 G T 2: 34,408,692 (GRCm39) V35F probably damaging Het
Mccc1 A G 3: 36,044,313 (GRCm39) V171A probably damaging Het
Metap1d A T 2: 71,346,104 (GRCm39) R222* probably null Het
Mrgpre G A 7: 143,334,603 (GRCm39) A300V probably benign Het
Mterf1b C A 5: 4,246,606 (GRCm39) N82K probably benign Het
Myh9 C T 15: 77,669,422 (GRCm39) W533* probably null Het
Myom2 A G 8: 15,148,472 (GRCm39) probably null Het
Ncor1 G A 11: 62,257,808 (GRCm39) P329S probably damaging Het
Nr2f1 T C 13: 78,344,611 (GRCm39) probably benign Het
Or10x1 T G 1: 174,197,236 (GRCm39) V251G probably benign Het
Or11a4 T A 17: 37,536,451 (GRCm39) L145* probably null Het
Or2a57 C T 6: 43,212,838 (GRCm39) Q99* probably null Het
Or2w6 A T 13: 21,843,244 (GRCm39) I83N possibly damaging Het
Or52p2 T C 7: 102,237,237 (GRCm39) T238A probably benign Het
Or6c210 A G 10: 129,496,532 (GRCm39) I286V probably benign Het
Or6z1 A T 7: 6,504,675 (GRCm39) C183* probably null Het
Pcdha11 T C 18: 37,138,950 (GRCm39) L193P probably benign Het
Pcdhb20 T A 18: 37,639,285 (GRCm39) F604I probably damaging Het
Pde1a T C 2: 79,708,545 (GRCm39) H291R probably damaging Het
Pira1 C A 7: 3,739,337 (GRCm39) E510D probably benign Het
Pkd2l1 G T 19: 44,146,108 (GRCm39) Q149K probably benign Het
Pkhd1l1 T A 15: 44,392,955 (GRCm39) N1763K probably benign Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Prpf39 A C 12: 65,089,528 (GRCm39) N89H probably damaging Het
Rad54l2 A G 9: 106,587,537 (GRCm39) F743L probably damaging Het
Raver2 A G 4: 100,991,320 (GRCm39) probably null Het
Ric8b T C 10: 84,783,709 (GRCm39) L189P probably damaging Het
Sccpdh T C 1: 179,495,957 (GRCm39) F13L probably benign Het
Scd2 T C 19: 44,291,448 (GRCm39) F296L probably damaging Het
Scg2 G T 1: 79,414,023 (GRCm39) D233E probably benign Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Skint5 A T 4: 113,636,286 (GRCm39) V644E unknown Het
Slc44a5 G T 3: 153,969,678 (GRCm39) V612F possibly damaging Het
Snd1 C T 6: 28,520,234 (GRCm39) R107* probably null Het
Sun5 G T 2: 153,702,589 (GRCm39) T189K probably damaging Het
Tap1 A T 17: 34,412,151 (GRCm39) E452V probably damaging Het
Tcam1 A G 11: 106,173,652 (GRCm39) N32S probably benign Het
Tep1 T C 14: 51,067,715 (GRCm39) E2167G probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmem175 T C 5: 108,793,821 (GRCm39) V317A probably damaging Het
Tsga13 A G 6: 30,874,139 (GRCm39) V231A probably benign Het
Tspan12 A G 6: 21,799,970 (GRCm39) S126P probably damaging Het
Uvrag G T 7: 98,637,398 (GRCm39) D143E probably damaging Het
Vmn1r230 T A 17: 21,067,036 (GRCm39) M75K possibly damaging Het
Vmn2r120 A T 17: 57,852,287 (GRCm39) F10I probably benign Het
Vmn2r57 T C 7: 41,049,284 (GRCm39) T822A probably benign Het
Vmn2r67 T C 7: 84,799,768 (GRCm39) Y490C probably damaging Het
Zc3h7b T A 15: 81,667,386 (GRCm39) W644R probably damaging Het
Zeb1 A G 18: 5,766,962 (GRCm39) D491G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp831 A T 2: 174,486,308 (GRCm39) T328S possibly damaging 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
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
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'- AAAGTTGCAGGCTCTGTGC -3'
(R):5'- TCAATATGCTTCCTGGAGAGAAG -3'

Sequencing Primer
(F):5'- TGCAGGCTCTGTGCTAGCTC -3'
(R):5'- ATATGCTTCCTGGAGAGAAGTTAGG -3'
Posted On 2018-02-28