Incidental Mutation 'R6704:Pfkl'
ID 528865
Institutional Source Beutler Lab
Gene Symbol Pfkl
Ensembl Gene ENSMUSG00000020277
Gene Name phosphofructokinase, liver, B-type
Synonyms
MMRRC Submission 044822-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6704 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 77822781-77845641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77832200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 297 (G297D)
Ref Sequence ENSEMBL: ENSMUSP00000020522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020522] [ENSMUST00000145716] [ENSMUST00000218383]
AlphaFold P12382
Predicted Effect probably damaging
Transcript: ENSMUST00000020522
AA Change: G297D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277
AA Change: G297D

DomainStartEndE-ValueType
Pfam:PFK 17 324 4.7e-109 PFAM
Pfam:PFK 401 686 1.9e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149271
Predicted Effect probably benign
Transcript: ENSMUST00000218383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220064
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,060,379 (GRCm39) S2921P probably damaging Het
Asxl3 G A 18: 22,650,362 (GRCm39) A784T probably benign Het
Atm T C 9: 53,370,153 (GRCm39) I2320V probably benign Het
Ccdc152 T A 15: 3,310,195 (GRCm39) I227F probably damaging Het
Cd109 T C 9: 78,587,357 (GRCm39) V675A probably benign Het
Col3a1 T C 1: 45,386,892 (GRCm39) Y235H probably damaging Het
Dnmbp T C 19: 43,889,652 (GRCm39) D705G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermn T C 2: 57,938,046 (GRCm39) D189G possibly damaging Het
Evx2 C A 2: 74,486,499 (GRCm39) A297S probably damaging Het
Fat1 T C 8: 45,477,410 (GRCm39) F2152S probably damaging Het
Fndc1 A G 17: 7,990,642 (GRCm39) V1018A unknown Het
Hyou1 T C 9: 44,292,431 (GRCm39) probably null Het
Kcnma1 G A 14: 24,052,882 (GRCm39) Q187* probably null Het
Macf1 C T 4: 123,304,555 (GRCm39) probably benign Het
Mcam T A 9: 44,048,217 (GRCm39) D124E probably benign Het
Mical3 T C 6: 120,986,761 (GRCm39) probably benign Het
Mlxipl A T 5: 135,166,094 (GRCm39) probably null Het
Myt1 A G 2: 181,453,005 (GRCm39) M1V probably null Het
Nlrc3 C T 16: 3,782,945 (GRCm39) V155I probably damaging Het
Nlrp2 A C 7: 5,328,040 (GRCm39) L671* probably null Het
Omd A G 13: 49,743,349 (GRCm39) D133G probably damaging Het
Or5h19 T C 16: 58,856,225 (GRCm39) R292G probably damaging Het
Or9r7 T A 10: 129,962,024 (GRCm39) K301* probably null Het
Pappa G A 4: 65,123,161 (GRCm39) C832Y probably damaging Het
Pcnx3 A T 19: 5,736,515 (GRCm39) V174E possibly damaging Het
Polr3a A G 14: 24,511,910 (GRCm39) L882P probably damaging Het
Ptchd4 A G 17: 42,627,931 (GRCm39) T131A probably benign Het
Rad50 T C 11: 53,589,745 (GRCm39) N152S probably damaging Het
Ruvbl1 T A 6: 88,456,187 (GRCm39) M147K probably benign Het
Septin4 T A 11: 87,479,856 (GRCm39) I277N probably damaging Het
Serpini1 T C 3: 75,545,255 (GRCm39) V337A probably damaging Het
Tmem131 A G 1: 36,835,261 (GRCm39) V1620A possibly damaging Het
Tpr A G 1: 150,282,259 (GRCm39) E248G possibly damaging Het
Ugt2b36 C A 5: 87,239,990 (GRCm39) V132F probably damaging Het
Utrn T C 10: 12,621,035 (GRCm39) E212G probably damaging Het
Zc2hc1c A T 12: 85,337,258 (GRCm39) Q305L 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
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
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'- GTATATACAGGGGTCAAGCCAGC -3'
(R):5'- TGACCCGCACATATCACGTG -3'

Sequencing Primer
(F):5'- AGCCCAGTTCCTCAGTACATG -3'
(R):5'- ATAGTGTGGCTTATTTCTCAGGC -3'
Posted On 2018-07-24