Busch Lab

ZMP

hif1ab

Ensembl ID:
ENSDARG00000034293
ZFIN ID:
ZDB-GENE-040426-706
Description:
hypoxia-inducible factor 1-alpha [Source:RefSeq peptide;Acc:NP_956527]
Human Orthologue:
HIF1A
Human Description:
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) [Source:HGNC
Mouse Orthologue:
Hif1a
Mouse Description:
hypoxia inducible factor 1, alpha subunit Gene [Source:MGI Symbol;Acc:MGI:106918]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa16125 Nonsense Available for shipment Available now
sa23673 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa16125
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000018500 Nonsense 137 777 4 15
ENSDART00000047580 Nonsense 137 532 4 15
Genomic Location (Zv9):
Chromosome 20 (position 20410476)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 20438643
GRCz11 20 20338316
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTTTCTCTCTCTTAGTTTGATCTGACCGGKCACAGCATCTTTGAATTTT[C/A]ACACCCATGTGACCATGAAGAGTTGAGAGAGATGCTCGTCCACAGAACAG
Long Flanking Sequence:
GGCCACCAATATTACATGCATTTCTAATATAAGTATTAAAATACACTAAATTGTTTAATAAAATATGTTCTTGCAATATTTTATTTATAGTAATACAAAACAATTAATAGGAATGTACCAAGTTAGCAACATGTGATTGTATTTTTTCTTATACAAACCACTTAGTATCAGGTGTAAACATGACCTTACATTTATTATATTGCTCAGGGATGTTATTCGATTTTGCAGATGAAAAAGAGGAGAAGGAGGAGAATGAGCTGGAAAGTCAGCTGAATGGCTTTTATCTGAAGGCCCTTGAGGGTTTCCTTATGGTCCTGTCTGAGGATGGAGACATGGTTTATCTCTCTGAGAATGTCAGCAAGAGCATGGGCCTCACACAGGTACCTCGACGTCTGCATTTTCTTCTAAGCATTTCGATTAAAAGCTTATGGTGTAGCTAAATATCCTTTCCTTTTCTCTCTCTTAGTTTGATCTGACCGGTCACAGCATCTTTGAATTTT[C/A]ACACCCATGTGACCATGAAGAGTTGAGAGAGATGCTCGTCCACAGAACAGGTGAGCCACACACGACACATTCATACCACTGATAAATCAGTCATTAATAACAAATGCATTAACGTTTGTCTTCATCCTTATCATCCATGTTTAGGATCCAAAAAGACCAAGGAACAAAACACAGAGCGTAGCTTCTTCCTGCGGATGAAGTGCACACTCACTAGCAGAGGACGCACCGTCAATATCAAGTCTGCGACGTGGAAGGTGACATTGTCTTTTCAAACTGTTGCTAATTGTAGTCATAGCTTATATATAGCCTTCCACATATCTATACCTTTTCCTGGTGTATTGTTCAAGAAGAATACAATTCGTAAAGCAGATTTTAGTTAAGGAAGTAGGAAAGAAAATAAGCTTGAGTCATTTTTTGTGAAGGATATTTATTTTGTAGTTTTTATTATGTACAGGGTTCATAAGGGTGCTGGAAATTCTTGAAAATGCGTGAAGTTTAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23673
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000018500 Essential Splice Site 504 777 10 15
ENSDART00000047580 None None 532 None 15
Genomic Location (Zv9):
Chromosome 20 (position 20404069)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 20432236
GRCz11 20 20331909
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCAGACCCCACAAACACACCCTCCACATCTGGACTCGGCTCTTCGGGGG[T/C]AAACACTTATTAAACGCTTGCTATTCTTGGTCATTTAACAACAATTGCTC
Long Flanking Sequence:
TATAATGGGTGTGACAGACAATGTAGATAACCAAAACATGCAGTGTTGGTGGTCCTCCAGGCACATAGTTGAGAAACACTGCTTTAGAGGATTAAATGCAATCCCCTGGCAGCTTTTTATCTTATGAAGACTAACAACTCTTGTCATTCACTAATCATCTGAGATTACAGGAAATGTGCTTTCATAATTTTACTGAAGTAAATCTAATATTAAATACACACAGTTCCTTGGTGGTCTACCAATAATAATTACCGGTATCCATTTCCCTCCAGATTCTGACATACAGCTGCTGAAGGAGGTGCCCCTCTACAATGATGTCATGCTGCCTTCCAGCAGTGAGAAGCTGCCACTCAGCCTATCTCCTCTCACACCCAGCGACTCCATCCCAGCTCTGACCAAACTAGAGACTGGAGGAGAGGACTTCCCTTTCAGCTCTGCCTCTGATCGTGTGCCAGACCCCACAAACACACCCTCCACATCTGGACTCGGCTCTTCGGGGG[T/C]AAACACTTATTAAACGCTTGCTATTCTTGGTCATTTAACAACAATTGCTCCCTTGTAATGGTTAATGAGATACTGTCACTGACTTTAGGTTGTTTTTTTTTGTCAATCTTAGCCCAACAGCCCCATGGATTACGGTTTCCCAGTGGAACCAGACATCAGTTCTGAATTTAAACTCGACCTGGTTGAGAAACTGTTTGCTATTGATACCGAAGCAAAGACACCTTTTTCCACCCAGGTAACTTTTTATTTAAGATTTTAACTACATATTGTTTGTCTCACTCTCTCCCAAAATCAAATTCTAATTCAAATGAGCTTTATTGGCATGACTTGTCAAGTATTGCTTATATATTGCAAATATGAATATATATACACATGTACATAAAACACAATTACAGATTTGATAAGTACATATGCAAATAAAAAAGACTAAGTTTTTTATTTTATATTATTACAAAGAAAACGAAAGAAAAATAAATTATAAAAAAAACAATATTATAATA
Associated Phenotype:
Not determined