Incidental Mutation 'R7154:Pfkl'
ID 557156
Institutional Source Beutler Lab
Gene Symbol Pfkl
Ensembl Gene ENSMUSG00000020277
Gene Name phosphofructokinase, liver, B-type
Synonyms
MMRRC Submission 045256-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7154 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 77822781-77845641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77837289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 95 (R95G)
Ref Sequence ENSEMBL: ENSMUSP00000020522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020522] [ENSMUST00000145716] [ENSMUST00000218383]
AlphaFold P12382
Predicted Effect probably benign
Transcript: ENSMUST00000020522
AA Change: R95G

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: R95G

DomainStartEndE-ValueType
Pfam:PFK 17 324 4.7e-109 PFAM
Pfam:PFK 401 686 1.9e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145716
AA Change: R66G

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000218383
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030423J24Rik T C 13: 71,032,344 (GRCm39) F139L unknown Het
Adgre1 G A 17: 57,751,087 (GRCm39) probably null Het
Agap2 A G 10: 126,927,524 (GRCm39) D1135G probably benign Het
Akp3 T C 1: 87,052,946 (GRCm39) L45P probably damaging Het
Arfgap3 A T 15: 83,220,905 (GRCm39) W71R probably damaging Het
Asic3 G A 5: 24,618,660 (GRCm39) probably benign Het
Asph A T 4: 9,630,930 (GRCm39) N139K possibly damaging Het
Atr T A 9: 95,747,098 (GRCm39) C127S probably benign Het
Auts2 A T 5: 131,480,731 (GRCm39) S255T Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Cacnb1 A G 11: 97,895,959 (GRCm39) L443P probably damaging Het
Cbfa2t3 G A 8: 123,364,883 (GRCm39) Q300* probably null Het
Ccer1 A T 10: 97,530,201 (GRCm39) D288V unknown Het
Col18a1 G A 10: 76,908,799 (GRCm39) P611S probably benign Het
Cpa6 T A 1: 10,407,694 (GRCm39) D281V possibly damaging Het
Cyp2e1 A G 7: 140,350,050 (GRCm39) Y245C probably damaging Het
Cyp4a31 T C 4: 115,431,963 (GRCm39) probably null Het
Efcab3 T A 11: 104,589,966 (GRCm39) probably null Het
Entpd1 T C 19: 40,713,430 (GRCm39) Y188H probably damaging Het
Epb42 T C 2: 120,863,843 (GRCm39) D111G probably benign Het
Espl1 A G 15: 102,232,484 (GRCm39) D2064G probably damaging Het
Fat3 A C 9: 15,908,160 (GRCm39) V2614G probably damaging Het
Fos A T 12: 85,520,931 (GRCm39) M40L probably benign Het
Frmd4b T A 6: 97,283,707 (GRCm39) E434V probably damaging Het
Galnt6 A T 15: 100,591,345 (GRCm39) D586E probably benign Het
Gapvd1 T C 2: 34,615,075 (GRCm39) K474R probably damaging Het
Gimap8 T A 6: 48,633,122 (GRCm39) F314I probably damaging Het
Gm14393 T G 2: 174,903,576 (GRCm39) K110N probably damaging Het
Gm4131 C A 14: 62,718,382 (GRCm39) A75S probably damaging Het
Heatr6 G A 11: 83,668,067 (GRCm39) V854I probably benign Het
Hic2 T A 16: 17,076,806 (GRCm39) M545K possibly damaging Het
Ift70b C T 2: 75,768,405 (GRCm39) R116H possibly damaging Het
Ip6k1 A G 9: 107,922,861 (GRCm39) Y331C probably damaging Het
Kalrn C T 16: 34,032,527 (GRCm39) probably null Het
Kxd1 T C 8: 70,968,084 (GRCm39) K88E probably damaging Het
Lrrc37a A C 11: 103,393,682 (GRCm39) V581G probably benign Het
Mex3d A T 10: 80,222,584 (GRCm39) V224E Het
Mtx2 T A 2: 74,706,762 (GRCm39) C246S probably damaging Het
Mybbp1a A G 11: 72,338,468 (GRCm39) probably null Het
Myh6 A G 14: 55,197,764 (GRCm39) I458T probably benign Het
Ndufs6 A G 13: 73,468,411 (GRCm39) V96A possibly damaging Het
Nemf A T 12: 69,363,515 (GRCm39) probably null Het
Notch1 T C 2: 26,349,950 (GRCm39) S2397G probably benign Het
Or4c15b A G 2: 89,113,204 (GRCm39) I91T probably damaging Het
Or6ae1 T C 7: 139,741,997 (GRCm39) I289V probably benign Het
Osbpl1a T C 18: 12,901,649 (GRCm39) E619G probably benign Het
Plat T A 8: 23,268,521 (GRCm39) I391K possibly damaging Het
Ppp1r21 A G 17: 88,862,314 (GRCm39) H244R probably damaging Het
Rapgef3 G C 15: 97,651,758 (GRCm39) H578Q probably benign Het
Rnf145 C A 11: 44,415,822 (GRCm39) N12K probably damaging Het
Sfxn5 C T 6: 85,309,405 (GRCm39) C100Y unknown Het
Sh3rf1 T A 8: 61,825,748 (GRCm39) L581Q possibly damaging Het
Sipa1l2 T C 8: 126,195,078 (GRCm39) K887E probably benign Het
Spopfm2 A G 3: 94,083,526 (GRCm39) I95T probably benign Het
Stard9 C A 2: 120,531,795 (GRCm39) T2684N probably benign Het
Stard9 A C 2: 120,535,023 (GRCm39) Q3760P probably benign Het
Stpg2 A G 3: 138,921,056 (GRCm39) E87G probably benign Het
Syne2 A G 12: 76,106,231 (GRCm39) Q792R possibly damaging Het
Taf7 T C 18: 37,775,601 (GRCm39) D322G possibly damaging Het
Tbc1d1 A G 5: 64,331,156 (GRCm39) S112G possibly damaging Het
Tbx3 A G 5: 119,810,093 (GRCm39) M5V possibly damaging Het
Tmem45b A T 9: 31,339,328 (GRCm39) I215N possibly damaging Het
Tpd52 G A 3: 9,028,916 (GRCm39) Q43* probably null Het
Trpa1 T A 1: 14,952,457 (GRCm39) N858I possibly damaging Het
Ttll5 A G 12: 85,972,538 (GRCm39) D767G probably damaging Het
Vmn2r3 G A 3: 64,194,732 (GRCm39) T62I probably benign Het
Wdr59 A T 8: 112,185,367 (GRCm39) N874K Het
Other mutations in Pfkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Pfkl APN 10 77,827,229 (GRCm39) missense probably benign
IGL01759:Pfkl APN 10 77,836,565 (GRCm39) missense probably damaging 1.00
IGL02697:Pfkl APN 10 77,835,752 (GRCm39) missense probably benign 0.09
IGL02870:Pfkl APN 10 77,836,673 (GRCm39) nonsense probably null
IGL02942:Pfkl APN 10 77,835,967 (GRCm39) critical splice donor site probably null
IGL02972:Pfkl APN 10 77,824,108 (GRCm39) missense probably benign 0.00
IGL03342:Pfkl APN 10 77,841,309 (GRCm39) missense possibly damaging 0.95
ANU23:Pfkl UTSW 10 77,827,229 (GRCm39) missense probably benign
R0226:Pfkl UTSW 10 77,828,368 (GRCm39) missense probably benign 0.00
R0743:Pfkl UTSW 10 77,831,077 (GRCm39) critical splice donor site probably null
R0899:Pfkl UTSW 10 77,841,273 (GRCm39) critical splice donor site probably null
R0926:Pfkl UTSW 10 77,836,523 (GRCm39) missense probably damaging 1.00
R1264:Pfkl UTSW 10 77,829,250 (GRCm39) missense possibly damaging 0.46
R1782:Pfkl UTSW 10 77,824,554 (GRCm39) missense probably benign 0.00
R1918:Pfkl UTSW 10 77,837,260 (GRCm39) missense probably damaging 1.00
R3743:Pfkl UTSW 10 77,832,179 (GRCm39) missense probably damaging 1.00
R4559:Pfkl UTSW 10 77,824,717 (GRCm39) missense probably benign 0.00
R4804:Pfkl UTSW 10 77,827,228 (GRCm39) missense probably benign
R4823:Pfkl UTSW 10 77,833,428 (GRCm39) missense probably damaging 1.00
R4906:Pfkl UTSW 10 77,824,144 (GRCm39) missense probably damaging 1.00
R5082:Pfkl UTSW 10 77,832,242 (GRCm39) missense probably damaging 1.00
R5216:Pfkl UTSW 10 77,845,504 (GRCm39) missense probably damaging 0.99
R5380:Pfkl UTSW 10 77,833,423 (GRCm39) missense possibly damaging 0.86
R5816:Pfkl UTSW 10 77,837,856 (GRCm39) missense possibly damaging 0.75
R5840:Pfkl UTSW 10 77,824,558 (GRCm39) missense probably benign
R5888:Pfkl UTSW 10 77,827,204 (GRCm39) missense possibly damaging 0.68
R6143:Pfkl UTSW 10 77,825,447 (GRCm39) missense probably damaging 0.96
R6152:Pfkl UTSW 10 77,825,985 (GRCm39) missense probably benign 0.00
R6251:Pfkl UTSW 10 77,825,399 (GRCm39) critical splice donor site probably null
R6262:Pfkl UTSW 10 77,824,507 (GRCm39) critical splice donor site probably null
R6382:Pfkl UTSW 10 77,835,671 (GRCm39) missense probably damaging 0.98
R6407:Pfkl UTSW 10 77,824,507 (GRCm39) critical splice donor site probably null
R6547:Pfkl UTSW 10 77,831,188 (GRCm39) missense probably benign
R6704:Pfkl UTSW 10 77,832,200 (GRCm39) missense probably damaging 1.00
R6996:Pfkl UTSW 10 77,833,423 (GRCm39) missense probably damaging 1.00
R7116:Pfkl UTSW 10 77,837,249 (GRCm39) missense probably benign
R7183:Pfkl UTSW 10 77,837,916 (GRCm39) nonsense probably null
R7248:Pfkl UTSW 10 77,825,423 (GRCm39) missense probably damaging 1.00
R7252:Pfkl UTSW 10 77,829,263 (GRCm39) missense probably damaging 1.00
R7278:Pfkl UTSW 10 77,827,857 (GRCm39) missense probably damaging 0.99
R7974:Pfkl UTSW 10 77,829,996 (GRCm39) missense probably damaging 1.00
R8686:Pfkl UTSW 10 77,833,356 (GRCm39) critical splice donor site probably null
R8900:Pfkl UTSW 10 77,836,615 (GRCm39) missense probably damaging 1.00
R9015:Pfkl UTSW 10 77,824,794 (GRCm39) missense probably damaging 0.98
R9090:Pfkl UTSW 10 77,833,426 (GRCm39) missense probably benign 0.28
R9257:Pfkl UTSW 10 77,825,489 (GRCm39) missense probably damaging 1.00
R9271:Pfkl UTSW 10 77,833,426 (GRCm39) missense probably benign 0.28
R9415:Pfkl UTSW 10 77,824,081 (GRCm39) missense probably damaging 1.00
R9439:Pfkl UTSW 10 77,831,172 (GRCm39) missense probably damaging 1.00
R9486:Pfkl UTSW 10 77,824,184 (GRCm39) missense probably benign
R9703:Pfkl UTSW 10 77,826,142 (GRCm39) critical splice acceptor site probably null
X0026:Pfkl UTSW 10 77,825,477 (GRCm39) missense probably damaging 1.00
Z1176:Pfkl UTSW 10 77,835,970 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGACCTTATGACCTGCAG -3'
(R):5'- AGATTCTAGAGGCTTCTCCCC -3'

Sequencing Primer
(F):5'- TGACCTTATGACCTGCAGACTATAC -3'
(R):5'- CTCCCCTGTTTAATTCTGTGGGG -3'
Posted On 2019-06-26