Incidental Mutation 'R6143:Pfkl'
ID 488686
Institutional Source Beutler Lab
Gene Symbol Pfkl
Ensembl Gene ENSMUSG00000020277
Gene Name phosphofructokinase, liver, B-type
Synonyms
MMRRC Submission 044290-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6143 (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 A at 77825447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 648 (R648W)
Ref Sequence ENSEMBL: ENSMUSP00000020522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020522] [ENSMUST00000105397] [ENSMUST00000105398]
AlphaFold P12382
Predicted Effect probably damaging
Transcript: ENSMUST00000020522
AA Change: R648W

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: R648W

DomainStartEndE-ValueType
Pfam:PFK 17 324 4.7e-109 PFAM
Pfam:PFK 401 686 1.9e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105397
SMART Domains Protein: ENSMUSP00000101036
Gene: ENSMUSG00000020284

DomainStartEndE-ValueType
LRRcap 104 122 3.42e-2 SMART
low complexity region 178 191 N/A INTRINSIC
low complexity region 210 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105398
SMART Domains Protein: ENSMUSP00000101037
Gene: ENSMUSG00000020284

DomainStartEndE-ValueType
LRRcap 104 122 3.42e-2 SMART
low complexity region 178 191 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149271
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A G 14: 55,797,736 (GRCm39) probably benign Het
Abcd2 A T 15: 91,075,150 (GRCm39) V221E possibly damaging Het
Arhgap39 T A 15: 76,614,606 (GRCm39) K853* probably null Het
Art2a T C 7: 101,204,430 (GRCm39) D36G possibly damaging Het
Atp13a1 C T 8: 70,258,010 (GRCm39) P922S probably benign Het
Brwd1 C T 16: 95,804,156 (GRCm39) G2005R probably benign Het
Bzw2 A T 12: 36,170,725 (GRCm39) M133K probably benign Het
Cacna1s T G 1: 136,004,496 (GRCm39) S346A probably damaging Het
Cebpb C A 2: 167,531,220 (GRCm39) D93E probably benign Het
Cep162 C A 9: 87,094,904 (GRCm39) probably null Het
Col9a2 A T 4: 120,911,060 (GRCm39) Y565F probably damaging Het
Csgalnact1 T A 8: 68,826,202 (GRCm39) N372I probably damaging Het
Csmd1 T C 8: 16,138,315 (GRCm39) D1579G probably damaging Het
Cyfip2 A C 11: 46,144,792 (GRCm39) Y687* probably null Het
Cyp2d34 G A 15: 82,504,977 (GRCm39) R28W probably benign Het
Dbndd2 C A 2: 164,330,206 (GRCm39) Q13K probably damaging Het
Dnah5 T A 15: 28,233,377 (GRCm39) S245R probably benign Het
Dnajb5 A T 4: 42,956,990 (GRCm39) T226S probably damaging Het
Dnmt1 T C 9: 20,838,430 (GRCm39) E211G probably benign Het
Dnpep G A 1: 75,291,872 (GRCm39) H214Y probably damaging Het
Drc3 G A 11: 60,261,406 (GRCm39) V186M possibly damaging Het
Dvl3 A G 16: 20,345,789 (GRCm39) D413G possibly damaging Het
Dyrk4 C T 6: 126,863,614 (GRCm39) probably null Het
Edc4 T A 8: 106,612,506 (GRCm39) D181E probably damaging Het
Enthd1 T C 15: 80,393,487 (GRCm39) Y247C possibly damaging Het
Gm5622 A T 14: 51,892,372 (GRCm39) R50S possibly damaging Het
Gpbp1 G A 13: 111,603,389 (GRCm39) T20I probably damaging Het
Hnrnpdl A T 5: 100,184,410 (GRCm39) Y276* probably null Het
Hsd3b7 A C 7: 127,400,404 (GRCm39) E51A probably damaging Het
Ighv5-16 G T 12: 113,802,238 (GRCm39) F87L probably damaging Het
Iqsec1 C T 6: 90,786,666 (GRCm39) probably null Het
Irgm2 A T 11: 58,111,435 (GRCm39) E387D possibly damaging Het
Klhl23 C A 2: 69,664,040 (GRCm39) P463Q possibly damaging Het
Mast4 A T 13: 102,990,391 (GRCm39) N43K probably damaging Het
Mme T G 3: 63,207,532 (GRCm39) probably null Het
Mrps31 T G 8: 22,901,539 (GRCm39) S20A probably benign Het
Myo5c A G 9: 75,157,091 (GRCm39) R176G probably damaging Het
Naf1 T C 8: 67,330,347 (GRCm39) V291A possibly damaging Het
Nbeal1 A T 1: 60,290,466 (GRCm39) H1021L possibly damaging Het
Ncaph2 T C 15: 89,248,206 (GRCm39) probably null Het
Neurod4 T G 10: 130,106,869 (GRCm39) Y135S probably damaging Het
Nrp2 A T 1: 62,799,974 (GRCm39) N396I probably damaging Het
Nvl T G 1: 180,962,560 (GRCm39) T137P probably benign Het
Or5p59 A G 7: 107,703,335 (GRCm39) D273G probably damaging Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pcdhgc4 T A 18: 37,950,653 (GRCm39) S690T possibly damaging Het
Pck1 A T 2: 172,995,805 (GRCm39) D101V probably damaging Het
Pdilt T A 7: 119,094,265 (GRCm39) N329Y probably damaging Het
Prtn3 T A 10: 79,716,382 (GRCm39) I63N probably damaging Het
Psg22 C T 7: 18,456,723 (GRCm39) A163V probably benign Het
Pten A G 19: 32,777,485 (GRCm39) T160A possibly damaging Het
Retreg2 A G 1: 75,123,530 (GRCm39) D449G probably damaging Het
Scn9a T C 2: 66,317,868 (GRCm39) Y1531C probably benign Het
Sgk2 T A 2: 162,841,174 (GRCm39) C195S probably damaging Het
Slc19a3 C T 1: 83,004,060 (GRCm39) V14I probably benign Het
Snai2 A T 16: 14,526,107 (GRCm39) R253* probably null Het
Speg G A 1: 75,391,031 (GRCm39) V1512I probably damaging Het
Srsf1 G A 11: 87,940,425 (GRCm39) probably benign Het
Tctn3 G T 19: 40,597,671 (GRCm39) T190N probably benign Het
Tmprss11f T A 5: 86,687,558 (GRCm39) I117L probably benign Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Vmn2r118 G T 17: 55,899,871 (GRCm39) L678I possibly damaging Het
Vps13b T C 15: 35,668,884 (GRCm39) S1594P probably damaging Het
Vps13d G T 4: 144,875,135 (GRCm39) H1791N possibly damaging 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
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
R7154:Pfkl UTSW 10 77,837,289 (GRCm39) missense probably benign 0.41
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'- TTCTCCAGACCATGCACGAAG -3'
(R):5'- CCTATGGGTGATGAGCAGAG -3'

Sequencing Primer
(F):5'- TGCACGAAGCCTCTCCC -3'
(R):5'- ACAGGACTGCGAGTTGCTG -3'
Posted On 2017-10-10