ZMP

pfkfb1

Ensembl ID:

ENSDARG00000037140

ZFIN ID:

ZDB-GENE-030131-5664

Description:

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Source:RefSeq peptide;Acc:NP_956102]

Human Orthologue:

PFKFB1

Human Description:

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Source:HGNC Symbol;Acc:8872]

Mouse Orthologue:

Pfkfb1

Mouse Description:

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 Gene [Source:MGI Symbol;Acc:MGI:107816]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa5979	Nonsense	Mutation detected in F1 DNA	Not yet available
sa37720	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa5979

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000002939	Nonsense	167	457	7	14
ENSDART00000141553	Nonsense	180	470	7	14

Genomic Location (Zv9):

Chromosome 23 (position 26320555)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	26106675
GRCz11	23	26033216

KASP Assay ID:

554-3669.1 (used for ordering genotyping assays)

KASP Sequence:

RTTTTATTTAATGGATTTTGACAGCAAGTAAAATTGAGCAGCCCAGATTA[T/G]GAAAACTACGACAAAGAAGAAGCACTGGTGGACTTTCTGAAGCGCATAGA

Long Flanking Sequence:

TTTAAAAATTTAGTAATAATTAAGGTATGTTCAATTATTTTGAAGTGAACTAAAGCTGTTTTAATAGCAATATAAAGTCTGCTTAATGTTAGATATGTTTAGTTTCTTGTTTTCATGTCCACTATTGAATTGAGCTATTGTTCAATTTTTGATAATCATTATGCAACAGGCTGTGTAGTAGTGTGTAAACATTCTTTGATGCAACACTGTATGGGAAGCATTGGAAAATGAGTCAAAATGATGTTTACATTTGTGCCAAGAAAACCATTCATAGACTTGTCTATGTCCAGGTGTTTTTCATTGAGTCGATTTGTGATGACCCAGAAATTATCGAGGCAAATATAATGGTAAGCTTTAAGTTATTAACTATTATTAAGCAATTACAAACCATTTCAGATTATTTTTCAAATATTTCAGAGTTGACTTTTTATTGTTTTTATTCTCTATTTTGTTTTATTTAATGGATTTTGACAGCAAGTAAAATTGAGCAGCCCAGATTA[T/G]GAAAACTACGACAAAGAAGAAGCACTGGTGGACTTTCTGAAGCGCATAGATTGTTACAAAGTTTCATATGTGCCCCTGGATGATGAAAAAGACAGGTACACTGCTAACAACCTCTCAAATAAGTTACAGTAATAACTTTTACATTTAGATAAAACAATCCCGTTTTACAACATTTATTCCCCCCTCATTTATTTCCTCCCCTTTTGCCTGTGTATCTGCTTTATAGTCACCTTTCCTACATTAAGATCTTCAACGTAGGATCCAGGTACCTTGTGAATCGGGTTCAGGATCACATTCAGAGTCGTATAGTCTATTACCTCATGAACATCCACGTCACGCCACGATCCATTTACCTTAGCCGCCATGGAGAGAGTGAGCTCAACCTGCTGGGAAGAATTGGTGGAGACTCAGGCCTCTCTTCACAAGGCCAGAAGGTGATTTATATCAGCATTATCCAACTTAATATTCTATCAAACATCTCTCAGAAGTGTTTTTAAATG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa37720

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000002939	Nonsense	203	457	8	14
ENSDART00000141553	Nonsense	216	470	8	14

Genomic Location (Zv9):

Chromosome 23 (position 26320794)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	26106914
GRCz11	23	26033455

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTATTTCCTCCCCTTTTGCCTGTGTATCTGCTTTATAGTCACCTTTCCTA[C/A]ATTAAGATCTTCAACGTAGGATCCAGGTACCTTGTGAATCGGGTTCAGGA

Long Flanking Sequence:

GATGTTTACATTTGTGCCAAGAAAACCATTCATAGACTTGTCTATGTCCAGGTGTTTTTCATTGAGTCGATTTGTGATGACCCAGAAATTATCGAGGCAAATATAATGGTAAGCTTTAAGTTATTAACTATTATTAAGCAATTACAAACCATTTCAGATTATTTTTCAAATATTTCAGAGTTGACTTTTTATTGTTTTTATTCTCTATTTTGTTTTATTTAATGGATTTTGACAGCAAGTAAAATTGAGCAGCCCAGATTATGAAAACTACGACAAAGAAGAAGCACTGGTGGACTTTCTGAAGCGCATAGATTGTTACAAAGTTTCATATGTGCCCCTGGATGATGAAAAAGACAGGTACACTGCTAACAACCTCTCAAATAAGTTACAGTAATAACTTTTACATTTAGATAAAACAATCCCGTTTTACAACATTTATTCCCCCCTCATTTATTTCCTCCCCTTTTGCCTGTGTATCTGCTTTATAGTCACCTTTCCTA[C/A]ATTAAGATCTTCAACGTAGGATCCAGGTACCTTGTGAATCGGGTTCAGGATCACATTCAGAGTCGTATAGTCTATTACCTCATGAACATCCACGTCACGCCACGATCCATTTACCTTAGCCGCCATGGAGAGAGTGAGCTCAACCTGCTGGGAAGAATTGGTGGAGACTCAGGCCTCTCTTCACAAGGCCAGAAGGTGATTTATATCAGCATTATCCAACTTAATATTCTATCAAACATCTCTCAGAAGTGTTTTTAAATGTTAAATCTGCAATTTCCTGTCAGCCTTCTCTCTTGCTTTGTGGAAAGTCGTACTGTAGTTTATGATTATTATTATGTTTAAATGATCATTTCATTTCAGAGCTTTGCCATGAGTTGCATCGATTATGTTGTGTGTTACCATGGCATCTATGATCGACCCTCTGGGTTTCATAACAGTAACGTGCACGAGCAGTTATCTAGATTATTTAAACTGAACTTAGATTAGTTAGATCAAATAAT

Associated Phenotype:

Not determined