ZMP
ap1b1
Ensembl ID:
Description:
AP-1 complex subunit beta-1 [Source:RefSeq peptide;Acc:NP_001122002]
Human Orthologue:
AP1B1
Human Description:
adaptor-related protein complex 1, beta 1 subunit [Source:HGNC Symbol;Acc:554]
Mouse Orthologue:
Ap1b1
Mouse Description:
adaptor protein complex AP-1, beta 1 subunit Gene [Source:MGI Symbol;Acc:MGI:1096368]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa18117 | Nonsense | Available for shipment | Available now |
| sa20411 | Essential Splice Site | Available for shipment | Available now |
| sa26468 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa18117
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 |
|---|---|---|---|---|---|
| ENSDART00000022518 | Nonsense | 70 | 947 | 3 | 21 |
| ENSDART00000137128 | Nonsense | 70 | 947 | 4 | 22 |
| ENSDART00000140042 | Nonsense | 70 | 125 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 5 (position 26472413)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 24299678 |
| GRCz11 | 5 | 24803478 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTGTCAACTGCATGCAGACAGAKAACCTGGAACTGAAAAAGCTGGTCTA[T/A]CTGTACTTGATGAATWATGCCAAGAGCCAGCCAGACATGGCCATTATGGC
Long Flanking Sequence:
AACAACTTTTCCCCCCTATTTAACACAATATATTTCATAGTAATGTTTTGGAACAGTAAAAATGTCTGGCTAAATAATTAAAATAAACCATTTACTCCTGCTATCTTCATTAGTTTCAAAAGCACAGATTTAAAACGCATAAACACATAAAAAAAACTTATATATACACCTTTGGAATGGTGTAGCAGAAAATGTTAGTGGGATTAAAACCCTAACTTTTCCAAACCGCGATAAACCTTGAAAACAGTTATCATCCCATGCCTACAGTATTTTTAGTTATATGATATTTGATGTCATCTGCATAAAAAAAAGGATTACAGTATTATCAGGTTTGTGGATGATGAATATTGCATACTCCTAATGTCAACCATCCTTCTTTTCCATTGGTACAGTATGGTTGTAGTTTGAATATTTTTTTTTTTTTTTGTTCCCAGTGCTCTGTTTCCTGATGTTGTCAACTGCATGCAGACAGATAACCTGGAACTGAAAAAGCTGGTCTA[T/A]CTGTACTTGATGAATTATGCCAAGAGCCAGCCAGACATGGCCATTATGGCAGTCAACACTTTTGTGAAGGTAGGACTCGTACATCAATAAAATGGCCAATAGTTTTATTGTAAATATATTATCATATTGTTTGTCCTGAGACATGATTACAAGGTTTTTCATTTACTTTCCAATGGAAAAAGCTGAAATGCATGCATGATGAAACACTTAGACAGCTAAAACCGCTGCTCTGAAAAGTGAAGTGCCTAAAAGCCTCATCACGAGCCTGGTAACAGCAGAGAAACGCATCTCTTTGAAGACTGAAATAGTCAGTCTTTATAGGATAATATCGTCTGCAGGTCAGCGTGCTCCATCAGCACTAATTAGTTTTTGCTGGCCTCCCACACACCTGAGAACAGATAGATAGACATCATTATAAAGCAACCAACTAGTGGGTCATATAGCTTATCACATCAAATAAGAAAACGGAAACATTTCCAGGGCCTCCTGGATCTGTGGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20411
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 |
|---|---|---|---|---|---|
| ENSDART00000022518 | Essential Splice Site | 353 | 947 | 7 | 21 |
| ENSDART00000137128 | Essential Splice Site | 353 | 947 | 8 | 22 |
| ENSDART00000140042 | None | None | 125 | None | 5 |
Genomic Location (Zv9):
Chromosome 5 (position 26465310)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 24292575 |
| GRCz11 | 5 | 24796375 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGCTGGATATAATGATCCGCCTGGCCTCTCAGGCCAACATTGCTCAGG[T/C]AAACACATTACACATATGGATGCTCTTAAGTTAAAGTTTTGGAATGAAAT
Long Flanking Sequence:
CTTCTACCTTGTTGAACATTTTATTTCGTTCTTTTTTCTACAGTATCTGCGAGCGTGTGACTCCACGGCTTTCTCATGCTAACTCGGCCGTGGTGCTGTCTGCTGTGAAGGTTCTGATGAAGTTTATGGAGATGCTGCCGAAAGATCTAGATTATTATGGCACTCTGTTGAAGAAACTTGCTCCTCCATTGGTAACGCTGCTCTCCGCTGAACCTGAACTGCAGTATGTTGCCCTGAGGAACATAAACCTCATCGTACAGAAACGGTAGGTGCAGATCTGGAGGAAATATGATTATTTGAAGATGAAAAGATGATTTGTGGGTTTAAATTTATTTTTTTGAAGATCATTTCTCTTTTCATTTTTACTGTTTCCACCAGGCCTGAAATCCTAAAGCATGAGATGAAGGTTTTCTTTGTGAAATATAATGACCCAATCTATGTCAAGCTGGAGAAGCTGGATATAATGATCCGCCTGGCCTCTCAGGCCAACATTGCTCAGG[T/C]AAACACATTACACATATGGATGCTCTTAAGTTAAAGTTTTGGAATGAAATGTTGCAACCACTGCAAAAAAAAACCTTGTTCAGTATTATTGGTTTTAATACAAACATCTAAATCAGGGGTGCCCAAATGTTTTTGTATGAAAGGCCAAAAACCAAATATCACTGAGAGCTGTGGGCCGATGGTAAATATACCAAACTCTATTACTCTATTACATTAAAGTTGCCATACGTAATTATCAAATTTTCATAATATTTAAAAATAAATAGAAAACATTACTTTAAGTTGTATTAGCTAATTAGCAGTATAATTAATAAAATGATAACTTATTACAATAAAAACATAAACCATTACATTTACAACATTGGTATCAATGCTAAATACACTAGTCAAGCAGAATCTGCCTTTGCCTTCATTTGCTCACTGATGTCTCTGCATTGTCTGACAGTGTGTACTTTTGAGAAAAAAAAAAATCATTTTAAAACATTTAATTCAACTTTTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26468
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000022518 | Nonsense | 861 | 947 | 19 | 21 |
| ENSDART00000137128 | Nonsense | 861 | 947 | 20 | 22 |
| ENSDART00000140042 | None | None | 125 | None | 5 |
Genomic Location (Zv9):
Chromosome 5 (position 26439268)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 24266533 |
| GRCz11 | 5 | 24770333 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCAAGTGTTTTTGGCCACCTGGAAGGACATCCCAAATGACAACGAGGCA[C/T]AGTTCCAAATCAAAGACGTACACCTCAACTCAGGTAATGGGAATAAATGG
Long Flanking Sequence:
AATGTCCCCATTTGGCAAAAAAAAAATATATATATATTTTACTCATTTACATCATATTTCATGCATTTTGTTTCAGCAGAGTTTTTTATAGCTAGTGAATTTGTATACATTTTTACACTTGGAACAGAACTTTTTTTGACGAGATGGTTTTGCAAGTTTTAATGAAGAAAAGAATCATTATTTTGTAATAATTACATTTTCCATGTTACCTATTATTTCTGTTTGCACCAAAAGACAAGTATATATTTGCTTGGAATCTCTAATCCCCACTATATTTGGTTGTACATCTTTAGACATGACATTGTAGTCTAAAACAGAAACGTCTTCCTGGCAGCAAAATGGCAACCTTCAGTTTCAGACAAAGCCAAACTATTCTCGTCTTCTCATTCTCCTCATTTTTCACGGGCGTCCTCTCACATGCTGCTTTTGTGTCCTTCTGCTCTTTAGAACGTCAAGTGTTTTTGGCCACCTGGAAGGACATCCCAAATGACAACGAGGCA[C/T]AGTTCCAAATCAAAGACGTACACCTCAACTCAGGTAATGGGAATAAATGGTGTGCCATGCATGAGTGCATTAAGAAAGGAAGGTGAAAGTGAATGGAGAGAAACAAATAATAAAAGAAAAGATGGCAAAACGAGCTCTACCCATATCTGTGCTTGGTGTTATATTCACAATCACACACACACACACATCTTTTAAAATGAACACACTGTCCTGTTGCTGTCTCTGAAGAGCCGTGCTGATCCAATGGCATGTCTGAGTGTAATTAACTCAAGGAAGGTTTTTAAGGAGCGATCCACTTCCGCAGGATTGTTTGCATAAAATAATTGTGAATCACACAGGCATGAACATGCACACACATACTCAGTGATATTGCTAATGAATGCACAGTGGGTGTCTTTGGTGCTCTTTTTAAATCCCTCTCCTTTTTTTACACTCCATGTGGGTTGGTATTAAACATATTAGAATTTGCTGACCCACAGAATTTAAAAAAAATATATATC
Associated Phenotype:
Not determined