Incidental Mutation 'R6251:Pfkl'
ID 506235
Institutional Source Beutler Lab
Gene Symbol Pfkl
Ensembl Gene ENSMUSG00000020277
Gene Name phosphofructokinase, liver, B-type
Synonyms
MMRRC Submission 044368-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6251 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 77822781-77845641 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 77825399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020522] [ENSMUST00000105397] [ENSMUST00000105398]
AlphaFold P12382
Predicted Effect probably null
Transcript: ENSMUST00000020522
SMART Domains Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,445 (GRCm39) S36P probably damaging Het
Agmo A G 12: 37,302,538 (GRCm39) D125G probably damaging Het
Arhgap26 A T 18: 39,490,880 (GRCm39) S328C probably null Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Asb3 G A 11: 31,005,559 (GRCm39) A192T probably damaging Het
Atp10b A T 11: 43,126,573 (GRCm39) M1110L possibly damaging Het
Cacna1i T C 15: 80,220,883 (GRCm39) I175T probably damaging Het
Car15 A T 16: 17,655,227 (GRCm39) I71N probably benign Het
Casq1 T A 1: 172,044,407 (GRCm39) Y140F probably benign Het
Ccdc93 C T 1: 121,362,269 (GRCm39) T17M possibly damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Ciart G A 3: 95,788,323 (GRCm39) probably benign Het
Cul5 A T 9: 53,558,094 (GRCm39) V170D probably benign Het
Cyb5r3 T C 15: 83,038,917 (GRCm39) D224G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Daglb T A 5: 143,475,689 (GRCm39) L383Q probably damaging Het
Dazap2 T G 15: 100,514,864 (GRCm39) H28Q possibly damaging Het
Dnttip2 A T 3: 122,068,905 (GRCm39) D40V probably benign Het
Dynlt2b T A 16: 32,245,727 (GRCm39) D125E possibly damaging Het
Epn1 G T 7: 5,098,925 (GRCm39) D406Y probably damaging Het
Epn1 G T 7: 5,098,935 (GRCm39) R409L probably damaging Het
Evc T C 5: 37,457,843 (GRCm39) T966A probably benign Het
Extl3 T C 14: 65,314,375 (GRCm39) D269G probably damaging Het
Gfra3 TGCGC TGC 18: 34,828,864 (GRCm39) probably null Het
Gpr87 A T 3: 59,086,528 (GRCm39) F326I probably damaging Het
Hivep3 C A 4: 119,952,137 (GRCm39) P151H probably damaging Het
Kcnj14 T A 7: 45,467,440 (GRCm39) E302V probably damaging Het
Kdm5d T C Y: 921,693 (GRCm39) Y534H probably damaging Homo
Map3k5 T A 10: 20,014,006 (GRCm39) probably null Het
Mdn1 A G 4: 32,748,590 (GRCm39) T4212A probably benign Het
Ms4a6d A T 19: 11,564,504 (GRCm39) S122R probably damaging Het
Mtarc1 G A 1: 184,527,648 (GRCm39) R271W probably damaging Het
Nectin3 A T 16: 46,215,513 (GRCm39) H76Q probably damaging Het
Notch1 C A 2: 26,364,182 (GRCm39) E846D possibly damaging Het
Or1e23 A G 11: 73,407,534 (GRCm39) S164P probably benign Het
Or4a67 T C 2: 88,598,632 (GRCm39) E9G probably damaging Het
Or8b36 GTTT GTTTGCTTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TT TTGCTGTGT 9: 37,937,844 (GRCm39) probably null Het
Or8b36 G GGGATTGC 9: 37,937,833 (GRCm39) probably null Het
Or8b36 TGTTT TGTTTGCAGTTT 9: 37,937,841 (GRCm39) probably null Het
Or8g18 T A 9: 39,149,514 (GRCm39) I72F possibly damaging Het
Pigz T C 16: 31,764,424 (GRCm39) V494A possibly damaging Het
Pik3r4 T C 9: 105,531,247 (GRCm39) V516A probably benign Het
Polr2b G A 5: 77,496,141 (GRCm39) R1104K probably benign Het
Rap1a A T 3: 105,639,311 (GRCm39) L116* probably null Het
Rnf114 T C 2: 167,356,649 (GRCm39) *230R probably null Het
Rtl1 G T 12: 109,560,083 (GRCm39) N585K probably benign Het
Serpinb5 G T 1: 106,802,795 (GRCm39) R110I possibly damaging Het
Spink6 T C 18: 44,207,498 (GRCm39) probably null Het
Spopfm1 G T 3: 94,173,208 (GRCm39) S72I probably damaging Het
Stk39 A T 2: 68,137,383 (GRCm39) probably null Het
Tcstv2a T C 13: 120,724,907 (GRCm39) probably benign Het
Tcte1 A T 17: 45,846,085 (GRCm39) T230S probably benign Het
Tecpr1 C A 5: 144,135,394 (GRCm39) V1020L probably damaging Het
Tmc7 T C 7: 118,160,261 (GRCm39) Y192C possibly damaging Het
Trim63 A T 4: 134,050,537 (GRCm39) T274S probably benign Het
Wdr43 G A 17: 71,957,048 (GRCm39) probably null Het
Zfr T C 15: 12,160,677 (GRCm39) I750T probably benign 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
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'- AGATGGGCCTCAGTCCTTTC -3'
(R):5'- AGGCTCCTATGGGTGATGAG -3'

Sequencing Primer
(F):5'- GAACAGTCAGTACCCCAGGG -3'
(R):5'- ACAGGACTGCGAGTTGCTG -3'
Posted On 2018-03-15