ZMP
pfkfb4
Ensembl ID:
ZFIN ID:
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.
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.
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.
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