ZMP
si:ch211-86k6.4
Ensembl ID:
ZFIN ID:
Human Orthologue:
AKNA
Human Description:
AT-hook transcription factor [Source:HGNC Symbol;Acc:24108]
Mouse Orthologue:
Akna
Mouse Description:
AT-hook transcription factor Gene [Source:MGI Symbol;Acc:MGI:2140340]
Alleles
There are 12 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37255 | Essential Splice Site | Available for shipment | Available now |
sa12466 | Essential Splice Site | Available for shipment | Available now |
sa9769 | Essential Splice Site | Available for shipment | Available now |
sa11369 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37255
Status:
Available for shipment
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:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000127705 | Essential Splice Site | 118 | 1452 | 2 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
Genomic Location (Zv9):
Chromosome 21 (position 12164930)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13866104 |
GRCz11 | 21 | 13962833 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAACCGCTCTCTCAGGCCACTGGAGACCACTACTACTCTCCATCACTGC[G/T]TAAAAGGCTCAGTTTAATTAAACATCCATAACTAATTTTACAAATATAGT
Long Flanking Sequence:
ATTCCATGTGTTATGAATCAACCTGGAAAATGACATGTGTCTTGTCCAAATGAACAGTTTAAAGGATGGTTTTGGTGGCCAAATAGCTGGAGAATTGAAGAAGTTGGGTGGGTCAAATGTCTCCAGATCTCCAATTCAGTCACTTCAATCACCACAAATTGTAAGGGATCAAGAGGAAAGCCTTCACTCTCATCCTAAAACAAACAGTTTTTTTGCTAATATTTGAACAAAAGATCAAACAGTAAAAACGCTTTTTTCCACAAGCCTTCTTTGCTCATATAATGGTGCTTTCAAAACTGTATGCTAAACATGTAATGGTTGTGTGAATCAGAGAGAAGAGGAGGAGGTTGCAGAGGAGCTGTTGTGGGATGTGAAGACCCCTGAGCCTGAGCATGGGCCGCCGCCTGCAGTAGAGGAGATAAGCTGTCATCTGAGCGAACTGCTGGACTCTGAACCGCTCTCTCAGGCCACTGGAGACCACTACTACTCTCCATCACTGC[G/T]TAAAAGGCTCAGTTTAATTAAACATCCATAACTAATTTTACAAATATAGTAATATTTAATAAAAAGTGTTTTTGTGCAAAGGTATTATTCATCAATTGATATGGTAATATTTTTTTAAAAATTCAATTCATCTTTATTTCTATAGTGCTTTTACAATGTAGATTGCGTCAAAGCAGCTTCACATAGAAGATTATAGTCATTTGAAACATTGAAGGTTCATTTTTGAGAATTTAAGTTCAGTTTAGTTCCATTCAGTTCAGTTCAGTTTGGTTTAATATTCACTGCTGTGTGTCCAAACACTGAAGTTTTAGATTTTTATGACCAGTATTTATTTATTTAGAAAGGATAGTGGATAAATCAGAGTATTGCACAATGTATCTGTGTCAGCGCGTTTTGTACGTGTTGATGATCAGGTTTAAAACTAATTTAAAAACTTTAAGTGGACATTCACACTGCTGAGAGTGACATTTGTGCTGTGGGTTTTCCTCACCCAATAACCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12466
Status:
Available for shipment
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:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000127705 | Essential Splice Site | 692 | 1452 | None | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 12147568)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13848742 |
GRCz11 | 21 | 13945471 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGATGCTGCAGCAACNNNAAGGCRGACATGCCATCTTTGACCCAGACAGG[T/C]AGCCATTTTTTAAATGTTGGTGTACAGATATTGTAAAAAACAGAAATGTG
Long Flanking Sequence:
ATGTATGTTGTTCATATTGTAGAAAACTCCAGAAAAGCAGCAACTCGGCCTTCTTCTGTAAGCTCTATCAGCTCGAGGAGGTCTGGATCTCTTACTCCAGACCATCTGACAGACACTCTGTCCAAACAGAACCAAAGATTTCAGCTACAGGTGACCATCTTTAAATCAAGCAGCTGGAGATTTGTTATTTTCAAAGCAGTACTTTGAATCCTCACATGTATTGTTTTCTTCTTTTGTGCAGGTGGATGCATTTGAGTCGCTTTTAAAGGGTGGGAAGCTCAAGCCATGTGAGCAGACAAAGGTACTGTATGATGATGTTTGCGAATTGTGTATTTTTTTTAACACATGAAGTCAATTGGCTCAGTGGGAATTCTCTACAGGGTCTCTCCACACTGGCTGAGGGGCAGGAGTCTCTTGAGAGGGCTTATCTAAATGCACGAGTCCAATATCAGATGCTGCAGCAACGACAAGGCAGACATGCCATCTTTGACCCAGACAGG[T/C]AGCCATTTTTTAAATGTTGGTGTACAGATATTGTAAAAAACAGAAATGTGCGCACATCTAGAAAATCTCGAAGGCAGGTGCTCGATCATAAACAAACATTTGTAGCAAAAGATCAAAAAAAAATCGGCACACTGCCACTTTAGCTCTCAAAAAGTCTCTTAAATCACAATATTTGACCAACAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTGTGTGTGTGTGTGTGTTTGTGTGTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTAGGCAACAAATTTTTTTTTAGTTCATACGGTTCTAATTTCAGTGTAATTTTAGTGTGTTTGTTTTATAGTACAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9769
Status:
Available for shipment
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:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000127705 | Essential Splice Site | 747 | 1452 | 10 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
ENSDART00000127705 | Essential Splice Site | 747 | 1452 | 10 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
ENSDART00000127705 | Essential Splice Site | 747 | 1452 | 10 | 23 |
ENSDART00000140413 | None | None | 253 | None | 4 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 12145961)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13847135 |
GRCz11 | 21 | 13943864 |
KASP Assay ID:
2261-5376.1 (used for ordering genotyping assays)
KASP Sequence:
CTTCAGATGTSCTTTCTGCATCCATGCTGGAGCCTGAACCAGTGCCTGAG[G/A]TTCCTCAAAATKACTCCTAAACATCACTCACATATGACCTCATGGGTTCA
Long Flanking Sequence:
ATATGCTTAATAAATATGCTGAATATGCTGAGACAATCCCTCTTTTTCCTTTTTTGGATTGGTGTCTTGCAATTATCTTATTCTTTACTACTTTGTTTTTTCTATTTTATTTATTATTATTATTATTATTATTTGCATTATTATTATTTTGGTATTTGCTTGTGTTTAAAAATGAAATATTATAAAAATATATATATGTTTACTATTTCTCTAATAATATTTGCAATATGACTGCCTCTTACTGTATTTTTGATCAAATAAGAACCTTCTTTTTAAAAATCTGTGACTTGTTTGAGTGCTTATATTAATAGCTGTGTGTTTGTGTGTGACACAGGGATCTAGAGGGTCAGATCTTCAGGTCAGGGATGCGATTAGAGGAGCTGAAAGAGTGGCTGGAACAAGCAGAACAGAACCAACCTGTTTCTGAACCTACTTTATCCCCATATCCTCCTTCAGATGTCCTTTCTGCATCCATGCTGGAGCCTGAACCAGTGCCTGAG[G/A]TTCCTCAAAATTACTCCTAAACATCACTCACATATGACCTCATGGGTTCACAGATATTAAAGTGATTTTCACCTTCATTTGTTATCAGATCCCCCTGTCAGCAGTCTGTCCTGAGGCTTGTGTTGGTGTGGAGGTCAGTTCAGTCAGTGGAGAGAGTGATAGTGGTAGAGAGGAAATGGAAATGCTTCCGTTTGTTCTTCATCCCCTCGATAACAAACACCAACGTGTGGAGAAAGATTTCAGTGAACTCATGGACTGGTGAGAAGTCTTTGACTCGCATACAGTAATATTGGCACCCGGGGTAAACATGAGCGAAGTGAAAAAAATATCTTTATCGTTTAGTCTTTTGATATTTTGCTCAAGATACAATACAAAAACAACTTTGGTCTCTTTTTAACAAAATATAAACATAATATTTATTTATATATAAATAAAATATAAAATACATCACAAACAAAAAAAACATTAAAAGACAAAGAACAGGAAGTTGTTCAGCGATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11369
Status:
Available for shipment
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:
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000127705 | Nonsense | 1030 | 1452 | 15 | 23 |
ENSDART00000140413 | Nonsense | 209 | 253 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 21 (position 12137985)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13839159 |
GRCz11 | 21 | 13935888 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACACCACAAAAAAGCACATTGRTACATCAGGAAAATGCACAGGTCCKTA[T/G]AAGAAAATAGGAGGGGAGGAAAGGTGTTCTTTTTCCAGTCTTTCTTCCTC
Long Flanking Sequence:
TACAATCCTAAAAATAAAGGTTCCAAAAGGCAGTGATGACACTGAAGAATTACTTTGCATTCCCAAAGAGCCATTCAGTGAACAGTTCTTAAAAGAGCTGTTTTTCTATATATACTTCTCAAAAAAATGAAGGAAACACTTAAACAACACAATGTAACTCCGTGTTCCCTTTATTTTTTTTTTTAGCAGTATATTTTATAACATTGTAAAATTCTAAACATTTATTTAAAGAAATATGGATGTTAAATGTTATTCCTGGAACTATCACTTTAAAAAAAAAAAAACATCTCAAATACTCATCTTTTATTTCTGCATTTTTCTTTGTGTGATATCTTCTTTAGTTCCATCAGACTGTCTGACCCTCACACAAAGGACACAGAGAGACCAGAGTCTGCTTCTCCTTCTGGGCAGCCTTTCATTGTCTCTCCTTCTCCATCCCAACCTTCTCCAAACACCACAAAAAAGCACATTGATACATCAGGAAAATGCACAGGTCCTTA[T/G]AAGAAAATAGGAGGGGAGGAAAGGTGTTCTTTTTCCAGTCTTTCTTCCTCCTTATCCCCCCTTCACTGGCCACGTAGCAGCATTCTGCCCTGGACAAGCAGCCTGACCAGTCAATCAGAGCGTGGAGCTGATGAGGGTGGGTGTCACCATAAGAAAGAACTAAAACCTAATCAAATCAAAATAATTTGTATTTAGATTGTTGTCAAATGATTGTATTTGATAGCATTTCATAAGGAGGCTTAATCTGTTGGATTTATTAATGTTTTATAGATCTTTAACAGTGGAACAGAGTTCACAAATGGGTGAAACCTAGTAGTTTGAAAAATAGAGTCAAAAGCCCCTTTAACACATACAGACCTTTCCAGAAAATTACAGAAAATTTTCCGGAAAAGTCTGTATGTTTGAACAGGCCCTTTTTGAAAATACCGTAAAGAGTATGAATGTGCTGATGTGAGACGTCTACTCCAGCCAATCAGAACATTCAAGACATATTCACATCC
Associated Phenotype:
Not determined