Busch Lab

ZMP

hif1aa

Ensembl ID:
ENSDARG00000006181
ZFIN ID:
ZDB-GENE-080917-55
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 4 alleles of this gene:

Allele Name Consequence Status Availability
sa6314 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa16875 Nonsense Available for shipment Available now
sa13792 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa6314
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044282 Essential Splice Site 75 760 None 16
ENSDART00000144328 Essential Splice Site 61 189 None 10
ENSDART00000147222 Essential Splice Site 65 708 None 14
Genomic Location (Zv9):
Chromosome 13 (position 31993605)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 31639553
GRCz11 13 31770003
KASP Assay ID:
554-5251.1 (used for ordering genotyping assays)
KASP Sequence:
ATGAGACTGGCTCTCAGTTACCTGCGCCTGCGTAAACTGCTGAACAGCGG[T/A]GAGAGAGGATGAATGTGYGGTGAGATCATGAACTCTCMTGTGTTTGATGC
Long Flanking Sequence:
AAGCCTCCATTTTCATCTTTATTTGTTAATATATCAAGGCAAATATCAAAAGGTTAAACAATAAAGACCTTTTTCCCTCAGCCTTCTTTGCTAATATTTACCAATATGATTGAAGGGCACTGTCTCCTCTCAGCATGTGCTGTAGCTTCCTCAATAACATTGCATTCTGCTGGTTTATATGCTGTGAAATACATGTGTGTGTTTTACAGCTCTATGATGTATGTTTTAGACAGTTTGACAGATTTCTGACAGCACAGGCCCCTGAGCATGGTTTATATATGTCTGTGTTTGTGGTGTGTTTTTGATAGGGTGAGTTCAGAGCGAAGGAAGGAGAAATCCAGAGACGCAGCACGTTGTCGGAGAGGAAAAGAGTCTGAGGTGTTTTATGAGCTGTCCAGAGAACTCCCTCTCCCCCACAGCGTCACCTCTAACCTGGATAAAGCATCGGTCATGAGACTGGCTCTCAGTTACCTGCGCCTGCGTAAACTGCTGAACAGCGG[T/A]GAGAGAGGATGAATGTGCGGTGAGATCATGAACTCTCATGTGTTTGATGCTGACAGCCTGTGTTCATCTCTGTCTGTCTCTCTAGATGTGCTGGAGAAGGAGACTGCATTAGACACTCAGTGGAACGGTTCATTTCTGAAAGCTCTGGACGGGTTTCTTTTGGTTCTTTCAGCTGATGGTGATATTGTCTACCTTTCAGAGAATGTCAGCAAGTGCTTGGGCCTTCCTCAGGTGATTTTAAGCACACTTCCGATTCAGAATGTGTAGGTTCATGTGAATGTGGGTCTTTTATTTCTTTCTTCTGTCAAAATCAAAGGTAAATAATTTGAATAAAGATGAAAACCTGTAAGCATTGACTTTCATTGTAAGAAAAAGATACTATGGAAGTCAATGGTTATCTATATTCACCCAAAAATGAAGAATTACTCGCTTTTTATTAATCCTCAAGTGGTTATAAATCTTAAAAGGTTTCTTTCTTCTGTTGAAATCAAAGGAAGATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16875
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044282 Nonsense 278 760 7 16
ENSDART00000144328 None None 189 7 10
ENSDART00000147222 Nonsense 267 708 6 14
Genomic Location (Zv9):
Chromosome 13 (position 31998291)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 31644239
GRCz11 13 31774689
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGGGTTTTGATCCAGWGGATGTGTTACAGCATTCWGTGTATGAATACTA[T/A]CATGCGTTGGATTCAGACCACATGACCAAAACACACCACAGCCGTAAGAT
Long Flanking Sequence:
CAGTCATATGATTTTTATAGGGTCCAGGGAGGTCAGTGTTGTTTCAGAGGTGTTTCCCATAGCAATTAGATTTGAAGGTGGAGTCAACCCTCAATCTCGACCAGAGGAATTCTGCTAACTCATAGGATGTCACAGTGAATAATGCAGTTTTTTTCTCAAATGGAAAGAATATACAACAAAACTAAAAACATGTTACAAATTGAATACTTTCTTATAGTCAGTGAAGAAACTGCCTAACTGAAAAGTTGGTCATCTAGAGTATTTCTACCTGCAATTTCAGATCTAATGGATATTCAAACATTGTTTAGTAGGAAACGATGGATGTTTTTTATACACAGGATAGGTCAGGATTTATGGCCTGGATTTCTTCGCCATCTGGTGGCGAATTGCAAAATGTGCGGCATCACAGAGCAGCATGTGTTTGTTGATGTTTGCAGGATCACAGAGCTCTTGGGTTTTGATCCAGAGGATGTGTTACAGCATTCTGTGTATGAATACTA[T/A]CATGCGTTGGATTCAGACCACATGACCAAAACACACCACAGCCGTAAGATCAGATAAATGAAAGTTTACTTATGCAAATCTAAATTAAGATATTTCATAATACTTTATTGGTCTCTCTCTGCAGTTTTTGTGAAGGGGCAAGTGTGTACCGGACAGTACCGTCTGCTGGCTAAAGCCGGAGGGTTTGTTTGGGCAGAGACTCAGGCCACTGTGATCTATAACAGTAAAAACTCTCAGGCACAGTGTGTGGTTTGTGTCAACTACATCCTCAGGTGGGACTTTATACTCTATGTTTGACCTGAATACTAGTATTTGTGTGTGTTTGTGATGGTATGAATGCACCATTTAATCTATTTGTACTTTCTTATTCTGCAGTGGCATTGAACAACCCAAACAAATCCTGTCGCTTCAGCAAACCAACAGCACAAAAATAAAACAGGAAGAACACCAGGAGGAGGTTGAGGTGACCATGGCAGAGTTGAAAGAGGAGGAAAAGGAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13792
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044282 Nonsense 683 760 15 16
ENSDART00000144328 None None 189 None 10
ENSDART00000147222 Nonsense 631 708 13 14
Genomic Location (Zv9):
Chromosome 13 (position 32006864)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 31652812
GRCz11 13 31783262
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGCTTTCTCCCAGGGGTCTGTGCTGCAGGTTGTTACCGATTTTCCAGAG[A/T]AAAAGGTCCGCAAAACAGATGCTCCATCATCAGAAGGAATTCGTCATGCT
Long Flanking Sequence:
CTGTAAATAATGTTCATTTTCTTGCACAGATACTTTATAAGACTTTAGTATGAATAAAATTTTTTCCTGTTTTCGTTTTTTGACTGTCCAAATCTGGTAGTCATTGGTTTGCATTTTATGAATCACCAAAAGTTTAAGATAAAAAAAATCTTCTAACATGTTCTGTTGAAGAGAAAAAAGTAGCCTAAAACCTGGATGTCCTGATGTTAAGTAAATTATCAGCATTTTATTTTTTTTGATGAACTATCCCTTCAAGAAGTTGAGAAATACACCGATTAATGTGCATTCAGCTGAGCATTATAGCATATTAAAAAATATAATGTGTTTAAACCAAACATTTATATAGGCCTACCATTCACTGTAAATGTATAGTATTTATAAATGTCTCTGTGAAGGGTAGTAAAATTGTTACAACTTGTGCAAAAAGTGTTTATTATTGACTGTTAATGTGTGCTTTCTCCCAGGGGTCTGTGCTGCAGGTTGTTACCGATTTTCCAGAG[A/T]AAAAGGTCCGCAAAACAGATGCTCCATCATCAGAAGGAATTCGTCATGCTACGATACTGTTGCTGCCATCCAGTACGTCACCCTCAGTCTGTTGAATCCTTGCGAATGTTGTGAGGCCAGTTGTTTTCCATTTAAACAGTAAGTAACTGCTCTTTTTCAGATGTTGCAAGTCGGTTATTGAGCAGATCGTCAGAGGGCGGAGCCATAGCTATGCCCCTCCCCCAAATCACCCATCACGACTGTGAGGTAAATGCACCTGTGATTGGACGACAGCACCTGCTGCAGGGGGAGGAGCTTCTTTGTGCCTTGGATTTAGTTATTTAAAAAAAGCCATACTCATGTTAATTTAACAATTATCAGTGGCATTATGGATGGACTTCCATTCTAAAGAAACAGGGGTGAGCAATCAGAACAGCTGGGTTGCTTCTGCTTCTCATAAGCAGTTGGTAAATACATGCTGGACATTAAAGAAACAATAATTAATGACAAGGGAAATGTAA
Associated Phenotype:
Not determined