Busch Lab

ZMP

aqp1a.1

Ensembl ID:
ENSDARG00000023713
ZFIN ID:
ZDB-GENE-030131-7764
Description:
aquaporin 1 [Source:RefSeq peptide;Acc:NP_996942]
Human Orthologues:
AQP1, RP5-877J2.1
Human Descriptions:
aquaporin 1 (Colton blood group) [Source:HGNC Symbol;Acc:633]
cDNA FLJ51453, highly similar to Aquaporin-1 [Source:UniProtKB/TrEMBL;Acc:B4E220]
Mouse Orthologue:
Aqp1
Mouse Description:
aquaporin 1 Gene [Source:MGI Symbol;Acc:MGI:103201]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa39746 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa32826 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

This allele has been removed from public view.

Allele Name:
sa25741
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032459 Nonsense 95 260 1 4
Genomic Location (Zv9):
Chromosome 2 (position 2888962)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 2895987
GRCz11 2 2737886
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGCCAGCTGTCAGATCAGTCTGCTGAGGGCCGTCATGTATATTCTGGCC[C/T]AGATGATCGGGGCGACTGTGGCCAGCGCTATAGTGCTCGGGGTCTCCAAA
Long Flanking Sequence:
GAACATCTAGAAGTATAGTGTGTGTGTGTGTGTGCGAGTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTTCTTCTGTCTCCCCGCGGAGCTTAAACCCGCCTCCAGATTCATTAGCAGGACCTGCCCTATAAATACTGTGGTTTTGGCAGAGAAGCACACTTTTTTTTTGCTGTTGCTGCCCACAGATTAGAGGCGTCAGTCCGTCAGTCAGTCAGTCATGAACGAGCTGAAGAGCAAGGCTTTCTGGCGGGCCGTCCTGGCCGAGCTGCTGGGAATGACCCTGTTCATCTTCCTCAGCATTACAGCAGCTGTGGGAAACACCAACACTCAAAACCCAGACCAGGAGATCAAGGTGGCGCTGGCTTTCGGGCTGTCCATCGCCACCCTCGCCCAGAGCCTGGGACACATCAGCGGAGCTCACCTGAACCCTGCCGTGACCCTGGGTCTGCTGGCCAGCTGTCAGATCAGTCTGCTGAGGGCCGTCATGTATATTCTGGCC[C/T]AGATGATCGGGGCGACTGTGGCCAGCGCTATAGTGCTCGGGGTCTCCAAAGGGGACGCCCTGGGACTGAATCAAGTGAGTAAACTCGTACACTGTTAACAGTTACCTGTAGAATCTACAGTAACTCACTGGCAGCAGTTCACTTACTGTAAATCAGTTACAGTACAGTACAGTATTTACATTTACAGCACAGTTATCTTGCTGTATATGCATTTACAGTATATTTACTGTAAATATATAGTAATTTTTACAATGCAACTTTAAAATACAGTAACATACCGCATCTGTCCTACAGTAAAATACAGTTTACATTACAGTTGAATACTGTGTCATTTGCAAACATCGTTAACAGTGTATCTCTTACTCTTCTGTTTGATTAATTGAGATCTGATCTGTTCAGTCACTTAAAAATTCTAGACACTTGACATTTTAATGATTTTAAAGAATCGGAACTGAAATGTAATGAAAATAATGTCATCATTTGCTTGTCTTTCTTCTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39746
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032459 Essential Splice Site 174 260 2 4
Genomic Location (Zv9):
Chromosome 2 (position 2894094)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 2901119
GRCz11 2 2743018
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGCTCCTCTGGCCATCGGCCTCAGTGTTTGCCTGGGACATCTGACAGCC[G/A]TGAGTAATCAGCATTCACACTTCCACCGCTCTATTTTCTTTACCACGAGC
Long Flanking Sequence:
GCAACCCCAGATTAATAAAGGGACTAAGCTGAAATGAAAATGAATGAATGAAAAAATGATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATGCGAAATTTGCAGATGATAAAAGTAATATTCTGTGTTGATTAAAAAATTGTAAGATAAAAAATAATAACAATAATAAACAAATATTAATAACAATATATAAAATAGTAATAATAATAATAATATTTAATAATAATTCAAATCAATTCATCTTTTTTTTTTTTTTTTTTACAGTGTACAAATGATCTAATCTAAATCAAATGCTTTTATTTGTGTGCAGATCCACACAGATATTTCAGCAGGTCAAGGTGTTGGAATTGAGCTCCTGGCCACCTTCCAGCTGGTGTTGTGTGTTTTAGCAACTACAGACAAAAGGCGGCGGGACGTGTCGGGCTCCGCTCCTCTGGCCATCGGCCTCAGTGTTTGCCTGGGACATCTGACAGCC[G/A]TGAGTAATCAGCATTCACACTTCCACCGCTCTATTTTCTTTACCACGAGCATTCCTCTAGCTGCAGTAAACACTGTCAGGGTTACCATATGAATATGTAAAGCAACAGAGCAATGCTTAACCCTTGTGTATTGTGCATATCGACTCCCCTTTCATTATGTTGGGGACTATTTTTGCCCTATTGACTTGCATTATAATGACATAAAATAATCATGACAGCATATAATCTTGATTGTTGGTGGTTTTGTCATGGTAGGAAGAGGTCAAATGTGTCAATTTTGCTGTTGATCATCAGTTGGCAGCATTAACCCTTTAGATAGGCCTGTACAAAACAGTGTCTGGCTTTTATATGGAGTTCTATGGAGTAAAACAGCAGATTATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATAAATACACATACTATTTTCTAAGAGCTGAGCTGCTTATTATTTATTTTCTCAAACATATCAAGGTAAGTGCGCAAAGATATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32826
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032459 Essential Splice Site 175 260 3 4
Genomic Location (Zv9):
Chromosome 2 (position 2896515)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 2903540
GRCz11 2 2745439
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGCTCAATCCTCAGCATGGTCATCATCGTGTGTTGTTTCTCTCTGTGT[A/T]GATCAGCTTCACGGGATGTGGAATCAATCCTGCTCGAACATTCGGACCAG
Long Flanking Sequence:
TAGTAGTAGCAGCACACACACATACACTATACTCCATATAGCCATTTCATTTTGAGCCAGAAACTAAGCTTTTTTTGCTCTGCAACTGATGATCAACAGTAAAAAAATTACACATTTGATCTCTTCCCAACAGGGAAAACAAGCAACAATCAAGAACGGTCAAGACTTTGCAATCAAAAAGTGTGAATATAATGGAAGTCAGTGGGGCAAAAACAGCCGCCAACATAACGAAAGGGGAGTTCATTTGCCAAGAGTGTAATCCTGAATTTTAAACATTTTAACATTTAAGCATTTTGTCAAAATATGTTCCAAAAGATTTGCCCCCAAAAAATCTTTCTATATGCTCAAACACATTGTGGCCAAATCAATGACTCAAAATCACCCCAAGGTCTATGAAAACAACCCAACATCACACAAGGGTTAACCGAGTAAAGGAATAAGTAGGGCTTTCCAGCTCAATCCTCAGCATGGTCATCATCGTGTGTTGTTTCTCTCTGTGT[A/T]GATCAGCTTCACGGGATGTGGAATCAATCCTGCTCGAACATTCGGACCAGCAATGATTCGTCTAGATTTCGCCAACCACTGGGTAATAAAATTCAATTTCAGTTCCTTCCTTTAATCTAATCTAATTATTTCTAATTTAAAGGGGACCTATTATGCAAAAATCACTTTTATAAGGTGTTTAAATGCAATTTCTCGGCAACGGTGTGTGAATATAACCAGCTCATAATGTTTAAAATGCATTAATTGTATTTTTATAATCACACTTGATAAAAACAGTCTGCAGAAAAACTTTGATTGACATTCTCCCTTTGTATGATGTCATCAGATGGTGAAAAAGCCCCACCCACTAGTGCACATCTCTCCCTCATTAGCGCAAACAGCCCTGAATGAGAAGCAGCTGTTTTGAATCTGCCACTATGCTGACATGCAGGCATTTATAGCTCCGCCCTCTTTTGAAAAGAGCCCAATCTCATTTGAATTTAAAGCGACAGTCGCCAAAA
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa25742
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > A
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032459 Splice Site, Nonsense 201 260 3 4
Genomic Location (Zv9):
Chromosome 2 (position 2896597)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 2903622
GRCz11 2 2745521
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCGAACATTCGGACCAGCAATGATTCGTCTAGATTTCGCCAACCACTG[G/A]GTAATAAAATTCAATTTCAGTTCCTTCCTTTAATCTAATCTAATTATTTC
Long Flanking Sequence:
CAACTGATGATCAACAGTAAAAAAATTACACATTTGATCTCTTCCCAACAGGGAAAACAAGCAACAATCAAGAACGGTCAAGACTTTGCAATCAAAAAGTGTGAATATAATGGAAGTCAGTGGGGCAAAAACAGCCGCCAACATAACGAAAGGGGAGTTCATTTGCCAAGAGTGTAATCCTGAATTTTAAACATTTTAACATTTAAGCATTTTGTCAAAATATGTTCCAAAAGATTTGCCCCCAAAAAATCTTTCTATATGCTCAAACACATTGTGGCCAAATCAATGACTCAAAATCACCCCAAGGTCTATGAAAACAACCCAACATCACACAAGGGTTAACCGAGTAAAGGAATAAGTAGGGCTTTCCAGCTCAATCCTCAGCATGGTCATCATCGTGTGTTGTTTCTCTCTGTGTAGATCAGCTTCACGGGATGTGGAATCAATCCTGCTCGAACATTCGGACCAGCAATGATTCGTCTAGATTTCGCCAACCACTG[G/A]GTAATAAAATTCAATTTCAGTTCCTTCCTTTAATCTAATCTAATTATTTCTAATTTAAAGGGGACCTATTATGCAAAAATCACTTTTATAAGGTGTTTAAATGCAATTTCTCGGCAACGGTGTGTGAATATAACCAGCTCATAATGTTTAAAATGCATTAATTGTATTTTTATAATCACACTTGATAAAAACAGTCTGCAGAAAAACTTTGATTGACATTCTCCCTTTGTATGATGTCATCAGATGGTGAAAAAGCCCCACCCACTAGTGCACATCTCTCCCTCATTAGCGCAAACAGCCCTGAATGAGAAGCAGCTGTTTTGAATCTGCCACTATGCTGACATGCAGGCATTTATAGCTCCGCCCTCTTTTGAAAAGAGCCCAATCTCATTTGAATTTAAAGCGACAGTCGCCAAAATGGCACACTTAGGATCAGACCCTAAAAGGGTCCGTTTCAGAGAGTTATACAACATTATTTGTGTGGTATTTTGAGCTGAAAC
Associated Phenotype:
Not determined