ZMP
si:dkey-71c4.3
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to H.sapiens AAK1, AP2 associated kinase 1 (AAK1) [Source:UniProtKB/TrEMBL;Acc
Human Orthologue:
AAK1
Human Description:
AP2 associated kinase 1 [Source:HGNC Symbol;Acc:19679]
Mouse Orthologue:
Aak1
Mouse Description:
AP2 associated kinase 1 Gene [Source:MGI Symbol;Acc:MGI:1098687]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13225 | Nonsense | Available for shipment | Available now |
| sa21387 | Nonsense | Available for shipment | Available now |
| sa34493 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa7158 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa31683 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa13225
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008058 | Nonsense | 41 | 569 | 1 | 13 |
The following transcripts of ENSDARG00000011855 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 51226474)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 48977518 |
| GRCz11 | 8 | 48966287 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGCGCGGGCTCCGGTGCMTTCATCGGACGCGTTTTCTCCATCGGACGCTA[T/A]CAGGTGACCGTGGAGGAGACCGTGGCCGAGGGTGAGTTGTTCATAGTCAC
Long Flanking Sequence:
GGAGGACGACCAGAGAAAGCGGCTTTTCTGGATTTTTTTCTTCTGACGGGAGCGCGCTGGCGTTCACCACATCTCCTATTATTATATATCATCATAATCCACAGAAGTATGAAGATCTGTCAATGGTGACTCATCCTACAGCTCTTATATGCGATTTCTTCTCCTCCTCCGAGTTGTTGTTTTGGATCTCCAGCACTTCATTTAGTCTGTTTTGAGAGTATATATTGATATATTAAGAGATTATCTTGCTTTTTTCTGTCATTTGTGCTGCTGTCACGCTTGATTGGGATCTGGGAGAACGGCGCGTGCACGAGTCCGGCTGATTTATCTGTATTATTTTCATGGTTTAATGACAATTAAAGTGTCGCCGGTTGGACAATGAAGAAGTTCTTCGATGCCCGACGGGAGATGGTGAGCTCCGGGCCCGCGTCTGGAGCCGGTGCGGGAGGCGGCGCGGGCTCCGGTGCCTTCATCGGACGCGTTTTCTCCATCGGACGCTA[T/A]CAGGTGACCGTGGAGGAGACCGTGGCCGAGGGTGAGTTGTTCATAGTCACAAACTGCTTGTTTTTAGGTCTAATGTGTGTATTAATAAATGATGATGCGATGTGAGTGACTCCAAACGTCTGGCGTCACTGCTCTCACTCATGCGTCATCTAAATATTTGCTGACCTCATGAAGTGAAGTGTGCTGTCTCAGCAGAGGAGGGGTACACTTTAATGTTGCACGCCACAGTTATCATTTTGGAGATCACTTACTATAGTGTTGTTAAAAAATGAAAACAAAACAAAAAAGTTTTTTAAAAGACTTTGTTTAGGTGTAAGAAAAAAGAAGAACTTTAGCAGAATGTTCAAGCTGCTCCCCCCATGTAATGGAAGCAATGTAAACTGGAGAAGTGTCAAGCAAAAAACATCTTAAAACTACAATTAAAGAAATCAGTAACTCCCTTAGTCTTCTGAAGCCACATGTTAGCTTTGTGGAAATGTTTCGTAATGTAAGTGATTAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21387
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008058 | Nonsense | 139 | 569 | 4 | 13 |
The following transcripts of ENSDARG00000011855 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 51258301)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 49009345 |
| GRCz11 | 8 | 48998114 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCTCTGCTAATGCAGGCGGGCAGGTTGTGAACCTGATGAACCAGCGTT[T/A]GCAGACGGGCTTCAGTGAGTCGGAAGTGCTGCAGATCTTCTGTGACACAT
Long Flanking Sequence:
AGCTCACATTGCTAGTTTTGTGGTGTACTGCATGTCATTGAGAACCAAAAAAAAAAGTTGTTTGCCTTTGTGATCTTTAATTGAAATCTGAAAATGTACTTTGTTTGTTTTTAGTCAAATTCTCTGAGGTATTGGGCGTGGCTAATATACTTAACCACGCCCCTCTAACTGTCAGTTTTGACGTTGAGCAGGAGGAGGAGGAGTCTGTTAGAATGTAATAACTCTCCCAAAACCCTTTTTCTGATCTTTCTGAATGAAATGCCTACTGTACTACATCCAATCAGCTCGCAGTAGAAAAACAAGCCCTGCCCACTGTTTTCTCATTTAATATTTCGTTTCTCTGAAAACTGCATCACAATACAAAAAAAAAAGTTTTTGCAGCTTCTGGTTTGTGGACTTTAGGAATTACATTTCAGATTAGATTTACTACTAATCTTCCACCATTTTTCTGTTCTCTGCTAATGCAGGCGGGCAGGTTGTGAACCTGATGAACCAGCGTT[T/A]GCAGACGGGCTTCAGTGAGTCGGAAGTGCTGCAGATCTTCTGTGACACATGTGAAGCTGTTGCTCGACTACATCAGTGCAAACCTCCCATCATCCACCGGGACCTCAAAGTATGTGCTTTCCAGACTATCAGTATGTAATTTCTTTCTCAAGAAGGAACTGTTATTGTGTTTTTCAAAATCTATTTGACTTTAATAAATTGCATCTAAAAATGTTAAATGATTTTGTGTTATTGCACCTTTTATTTATTTAATATTAAACATTGTATTTATATACAATGTTTTTTTCTTACATTTGTTTCATTCAATGTTATACATACATGCGAAGATGCATATATATATATATATATATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACTGGCCACTTTATTAGGTACACTTCTCTAACTGCTTGTTAACGCCAATTTCTAATCAGCCAATCACATGGCAGCAACTCAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34493
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008058 | Essential Splice Site | 243 | 569 | 6 | 13 |
The following transcripts of ENSDARG00000011855 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 51260256)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 49011300 |
| GRCz11 | 8 | 49000069 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTCAATCTCTACGGAGGCATGGTCATCACTACTAAAGCAGATATATGG[G/T]TGAGTCAAGTCAAATAATCATTTACCTGCGGTGACAACAGGGTATTTTTA
Long Flanking Sequence:
TGTATTTACACAATAAGTACATTGTAAAAATCTATTAATTCCTTTGTAAGTACATATTAGTTAAGGCCACAATAAAGTGGGACCGAAAAAACATTATAGGAAATACTGTGAAAAGTTTCTTGCTCTGTTAAACAATTTCGGAATTATTCCAAAAACAAATTCACAGAAGGGCTATTTTAACTCATCTCGTTTCTTTGTATGTGTGTGTTGTAGGTGGAGAACATCTTGCTCCATGACAGAGGTCATTATGTGTTGTGTGATTTCGGTAGTGCCATCAACCGCTCCCAGAATCCGCAAACAGAAGGTGTGGCGGTTGTAGAAGAAGAAATCAAGAAGTAAGGGCTGATTTCTTTTGTTTGCGTTACACACTTCAGTTGTTCACATCAGTCAAATATATTTCCTCCTTGTGTGTTTTAAGGTACACTACTCTTTCATACCGCGCCCCAGAAATGGTCAATCTCTACGGAGGCATGGTCATCACTACTAAAGCAGATATATGG[G/T]TGAGTCAAGTCAAATAATCATTTACCTGCGGTGACAACAGGGTATTTTTAGTAGCAACCCAAGCTATTGTGTCTTGCCAATTATTGATGAATATGTAACCTGCTTTTATAGGATTAATAAAGATCACAAAGGATATTTTTAATTTTTTACAGTCTACAGTGCGCTCCATTAATAATGGCACCCTTGGTAAACATAACCATAGGAAAAATGGAGAGCCTTTGACCTTTATTAACTTTTGATCTTTTGCTCAAAACATGATCAAAAACATTTTAATTTTAAAAGTTTGGTTTTGAATGAGAATAGAGGCTTATTGTATTTTTTCAAAAAGATTTGGTTCATTTGAATTTATGGGGATTTGTTTTAAATGTCTTAAATAATACAGTCAAAGCTGCTTTATTGATGTTTTCATTCTTCATTTATTCATTCATTCATTCATACGTTCATTCATTCATTCATTCTTCATTTATTAATTTTGGTATTTTATTTGTTTTCTTTTAATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7158
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000008058 | Nonsense | 253 | 569 | 7 | 13 |
The following transcripts of ENSDARG00000011855 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 51262294)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 49013338 |
| GRCz11 | 8 | 49002107 |
KASP Assay ID:
554-4630.1 (used for ordering genotyping assays)
KASP Sequence:
CTTGTATGTTTGTGTCYTCAGGCTTTAGGCTGCTTGTTGTATAAGTTGTG[T/A]TATTTCACRTTGCCGTTTGGAGAGAGTCAGGTGGCTATCTGTGACGGCAG
Long Flanking Sequence:
ATTTATTTATTCCTTCATTCATTTTTTATTTTCTTTATTCATTCATACATTTATTTGTTCATTTATTTATTTATTCATTTATTTTTTATTTTCTTTAATTATTCTTTTTTTCTTTCTTTCTTTATTTATTCATTTATTTTTTATTTTCTTTATTCGATCATTTATTTTTTGTCCATTTATTTTTTTATTTTCATTATTCATTAGTTTATTAATTTATTTATATATTTATTCATTCATTTATTTATTTATTTATTTATTTATTGTCATTATTCATTAATTAATTAATTTATTTATAAATTTATTTATTCATTTATTTATTTTAATAAAATCACAGAGGGCTAATAGTTTTTTGTCTTCATGCTACTGTATACTAAGAGTGCCATTGTTAACGAAAAGGTATTGTATGTGTTTAGTTGTTCTTTTTTTAGACAGTGCTCAGAAACAGTGTCTCTTGTATGTTTGTGTCCTCAGGCTTTAGGCTGCTTGTTGTATAAGTTGTG[T/A]TATTTCACATTGCCGTTTGGAGAGAGTCAGGTGGCTATCTGTGACGGCAGCTTCACCATCCCAGACAACTCCAGATACTCACACGATATGCACTGTCTCATCCGTAAGAACAGCTCTTCCTTTCTCTTCTGATTTATATGTTAAGGGAAGACTGTCTCACAGAGTTTGGTACTTGGTTTCATGGTTTAAATGTTGTGTGTCAATTAAGGCTTAATCCCTATTCCACCACTTAGCCCTTCCCCTTACTCCTACCCCTTGCTTTGCACTTTCATGTAAAAGGGAAGCATATGTTTTAATACATTCATAATGACAACAAATAATAACTTGACTTCTAATTGATCATTTGGAAAAGTGGCAGAAGGTAGATTTTTCCCATGAATCATCTGTTGAACTGCATCCCAATCATCACAAATACTGCAGAAGACCTATTGGAACCTGCATGGACCCAAGATTCTCACAGAAATCAATCAAGTTTGGTAAAGGAAAAATCATGGTTTGGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31683
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 |
|---|---|---|---|---|---|
| ENSDART00000008058 | Essential Splice Site | 402 | 569 | 10 | 13 |
The following transcripts of ENSDARG00000011855 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 51266939)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 49017983 |
| GRCz11 | 8 | 49006752 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTCCTCGCAAAAGACCCAGTGCACCTCCAGGACCCAGCCAACCAATCAG[T/C]GAGTGTTGTGTCTTTATGCTCAATCTCTCTCTCTCTCTTGCTCTCTCTCT
Long Flanking Sequence:
TTTTCAAATGAAGGCAGAGCTTCAAATGCCTGTGTGTCAGTATAGTGGCAGATTCAAAAACCAGACCAACGTCCTATGTTAATGAGGGAGAGCTCATCACTAACTGGTGGAGCTTTCCCCCTCTGATGATGCGTACAATGGGAGAATGTCGGTCTATGTGTTTTTATCAAGTGTGATTATAAGAAATAGAATTTATTAAATTTTACCATTAGTAGCTGGTTATCACAGACTGCCGCCACACAACTGTGTTTAAACCCCTTATGAAAGGGAAACAGGACCGCTTTAAACAGCCTCGTAATATGAAAGTTGTTGGTTTTGACTGAACTTTTCTTGTCATTCAGGCTCACTGATCCAGTCCCCACTACTGAGACATCCATCGCACCCCGGCAGCGTCCCAAGGCTGGTCAGGCTCAACCAATCACAGGCATCCTGCCAATCCAGCCAGCCCTCACTCCTCGCAAAAGACCCAGTGCACCTCCAGGACCCAGCCAACCAATCAG[T/C]GAGTGTTGTGTCTTTATGCTCAATCTCTCTCTCTCTCTTGCTCTCTCTCTCTCTCTCTCTTGCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTATCTCTCTATCTCTCTCTCTCTTAACACCTCACACATCATAAAGACCCTTTTCACAAGACTGTTATGACACATTTAACAGTCATCAGCAGAACATCAACTTACACAACATCAGCCTAAATCCTTTTAAATATATGTTAATACATTTTAAGATGCTTTTAAAAGCTTTTAATACAGTAGCCCCTCTCTAAAACTTAGTTCACCTTTTCGCAGCCTTTTTTTAACGGTGCATTATGTTCTGCATCCTGATTGGTTGTAGACAATTGTCAACCACAGTGAGATCCTTTATTTACAAAGGGTAAAAGCATGAAACAGTAAAGAACCTTCCCAGGAGTGGCCGACTTACCATTTGCGGATTCCGCCT
Associated Phenotype:
Not determined