Busch Lab

ZMP

pfkfb4

Ensembl ID:
ENSDARG00000055540
ZFIN ID:
ZDB-GENE-051120-51
Description:
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 [Source:RefSeq peptide;Acc:NP_001032454]
Human Orthologue:
PFKFB4
Human Description:
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 [Source:HGNC Symbol;Acc:8875]
Mouse Orthologue:
Pfkfb4
Mouse Description:
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Gene [Source:MGI Symbol;Acc:MGI:2687284]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa27816 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa35129 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa27815 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa27816
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077883 Essential Splice Site 46 482 1 14
ENSDART00000133302 None None 453 None 14
Genomic Location (Zv9):
Chromosome 11 (position 35409549)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 34309923
GRCz11 11 34572022
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATCCTCCAGAAACGGCCTTCCTGACAGGCACATTAGTCAGAAAAAGGG[T/G]AAGCATGAATGAAAGGATGAGATGCTGGAGGCAGATTTGGGTTAAAGGGG
Long Flanking Sequence:
ACGCAACAGATGTCAGATGACTACACAGCGTTCTTCACCATTACGTCTGGTGAACAGAACAATAACACATATAAACTTTAGTAACAACTAATCTAAAAATGGTACAAAGATCAGTTTTAATAATGCTACATTTCAGGCTTTTAATATAAACCAAGCGGCCAAACCATGTATCTAAAGAAATCTTTTTTTAATGTATCCTACTGTTGAAAACACACCAATGTTTACGGTAAATATGTGTAAGCGCGCATCCGCTCCTGTCATTACGGTAGACCTTTTCCCTACCAGTCTCATGCCGTTCTTCAACGCTGTCTTTAGTGCGCACTGATGGTTATGGACGCTCGAGTGTAGAGACGACGGAATATAATGAGTTTAATAGAGAACAACACGGAGCAATGCGGCAATAGTCTGACCCGAGAGCTCACCCAGAATCCTTTAAAGAAAATATGGGTGCCATCCTCCAGAAACGGCCTTCCTGACAGGCACATTAGTCAGAAAAAGGG[T/G]AAGCATGAATGAAAGGATGAGATGCTGGAGGCAGATTTGGGTTAAAGGGGTTTTTCTGATGCAATACTCATAATATGACAGACTATTTAACCCTATATTTAGAGCTGAACATGAAGAAATCGAGAGGATTTTGTTTGAGTACGTTTACTTTTTTAAATAATTATTTTTAATAGCATTACATAAGATTTAAGAAGATTACGAGTTGTGTTTTACTGTATTATTGTATTATATATGTGATGTATAACGTTCATTTGTTACAATTTAAATTGTTGCACAGTACTTGGCTAGCTTGTAATCTTAGATATGTAAACAAATGAACTAAATAAGAGATAATAAATCGTAAATAGTTGTAAATTAAATAGTACATTATTACAGTATTGTGTAATAATGCTGTATTGCTTTAGTAATAGCACATTTGTTACATATTATTAAATAAATTACTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35129
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077883 Essential Splice Site 85 482 2 14
ENSDART00000133302 Essential Splice Site 56 453 2 14
Genomic Location (Zv9):
Chromosome 11 (position 35407055)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 34307429
GRCz11 11 34569528
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCAAAAAACTGACACGCTACCTCAACTGGATTGATGTTCCTACGAAAGG[T/C]TTGGATTGAGTTTACAAAGAGCAGATTTGTGAAATGCCAGGCCAAGATTG
Long Flanking Sequence:
GTGATTGTACCTCTACCTTATCATTTATGTCTCAAATGGAAATATTTGTGATTGTTTTTTGAAATCCGGTACATAATTTTAAAATGTACAAACCAATAGCAATATAACATGTTCACCCATGTTTTTATTACACAACTGTATAGACATAGATATGATATTATGCTCTTTGATGTGGCAATATCAAAGCGACTTCTGCTCTACAATGACAACTCACAGATTTGATTAAAGCAATAAAAATGCCACCAGAACTGCACAAAGATCAAATCATTCCTGTTCTTTATGCAATAAGGTGTGTGATGATCGACAGCTCGGCTTATATGCAAAGCAGGAGCTAAACGTGTTTTTCAAGTGTTTTATGAGACGCTGTTTTTGTTTCTTCCAGTATGCATGACAAACTGCCCTACGCTTATAGTAACCGTCGGTCTGCCCGCCAGAGGAAAGACCTACATCTCCAAAAAACTGACACGCTACCTCAACTGGATTGATGTTCCTACGAAAGG[T/C]TTGGATTGAGTTTACAAAGAGCAGATTTGTGAAATGCCAGGCCAAGATTGTGTTAATCCACATGTGGTTTTGCTCTTCCTCAAGTTGGTTTCCTTTTCACTTCCGCAGAGTTTAACGTTGGCCAATACAGACGAGAATGTGTTAAGATCTACAAATCCTTTGAGTTTTTTCGACCAGACAATGAAGAGGGGCTCAAAATCAGGAAGTAAGACTAAGATTTTTGTCAATATAAACAAGCTACTGTTATTCTGCAAATGTTCATAAATTCTTTGAGAACATAATCCCCATTGAGTTTACTTTCTCAACATTATGTTTATCAGGGTGTCTTAAAAAGTATTACATTTCAATTCTAAAATTTTAGACCTAAAAAGTCTTGTAGTCTTATATGTCTTAAATAATTTTAAATGGGTCTTATTTTTCCCATGTCCATGTAAAATTAATTATATTTAGTTTATTATCATTTTTAAAACCTCTTTTAAAGAAAATCTAGATTGAAGATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27815
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077883 Essential Splice Site 184 482 7 14
ENSDART00000133302 Essential Splice Site 155 453 7 14
Genomic Location (Zv9):
Chromosome 11 (position 35403745)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 34304119
GRCz11 11 34566218
KASP Assay ID:
554-6693.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATATCTTTATCTCACTGTATTTTGTATAAATTTGTGCTTTTTGTGTGC[A/G]GCAAGTGAAGCTGGGCAGTCCAGACTACACACACTGTAACACAGAAGAGG
Long Flanking Sequence:
AGCTTCTGAAAAGACAAAAAATGCTTGTCAAAATAAGAAAACACACTGTATGTTTTGCTCGCTTAATATTAGGAAGTCATTTTGAAATATTGCATTATGTTTCAGATGATAAAACAGCAACTTTCATATTCCAGAAAATACAGTAGTTGCGATTTAAACATTTTATTTTACGCATTTATCTTGTTTTTTATTACTCAATCCTCAGGTTTTTGATGCCACAAACACGACAAGAGAAAGAAGAGACACAATCATCAGATTTGCAGAGCAGAACGGTTTCAAGGTGCTTACTATGAGATTTTTCATCTAAAGCTTGTATTTTCATGTGTTTCTCATTTCAGCTCTTTTATAACGCTGTTTTCCTCTCATCTTTAAGGTGTTCTTTGTAGAGTCTGTGTGTGAAGACCCTGACGTTATCGCTGAAAACATTGTGGTAAGTCACAGAGACGTCTTTAATATCTTTATCTCACTGTATTTTGTATAAATTTGTGCTTTTTGTGTGC[A/G]GCAAGTGAAGCTGGGCAGTCCAGACTACACACACTGTAACACAGAAGAGGCCGTCGCTGACTTTATGAAGAGGATAAAGTGTTATGAGAACTCCTACCAACCCCTGGATGAGGAACTGGACCGGTATATATCATTTAAAGTGCTGTTGAGCTGAATCTTGAATTTTATGAATAAATGTAATCTTTTTTCTGTTTGTGTGTGTTTAGGGATCTTTCCTTCATAAAGATCATTGATGTGGGCCGAAGGTACCTAGTGAACCGGGTTCAGGACCACATACAGAGCAGAATAGTTTACTACCTCATGAATATCCACATCACGCCGCGGTCCATCTACTTGTGCCGGCATGGAGAGAGTGATCTGAACATTAAAGGCCGAATCGGAGGAGATTCAGGGCTTTCAGCAAGGGGAAAGAAGGTAAGCTGTTTAGGCTTGTTTATGTTAAGTCATCTTTTTTAGCCTAGCATTTATTCACAAAAATGCCAGGAGGTTTGATGTCTTGA
Associated Phenotype:
Not determined