ZMP
si:dkey-165i4.3
Ensembl ID:
ZFIN ID:
Description:
UPF0493 protein KIAA1632 homolog [Source:UniProtKB/Swiss-Prot;Acc:A5WUT8]
Human Orthologue:
KIAA1632
Human Description:
KIAA1632 [Source:HGNC Symbol;Acc:29331]
Mouse Orthologue:
5430411K18Rik
Mouse Description:
RIKEN cDNA 5430411K18 gene Gene [Source:MGI Symbol;Acc:MGI:1918673]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33676 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa14095 | Essential Splice Site | Available for shipment | Available now |
| sa17986 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa33676
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083644 | Nonsense | 1791 | 2341 | 36 | 44 |
| ENSDART00000144525 | Nonsense | 1983 | 2532 | 35 | 43 |
Genomic Location (Zv9):
Chromosome 5 (position 43213576)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 40994841 |
| GRCz11 | 5 | 41594994 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTATTTTTGGTGCAGATCGCTTGTTGCCAGGACAGAGAGGAGCTCTGT[G/A]GCTTCATCTCATGTTTTACTGTGAGACCTGCACTTCTCCTAAAATGCCAG
Long Flanking Sequence:
TACATGCCTTTAAATTCTCTTTAATGCAGCTCTGGAGAACCTGCATAGAAAAATGGCCAAACTCTTTGAGCCGTGGATTTTGGTGCTTGACACTGACAACACTAGGTATACTTTGATGTGACTCAGTGCTTTGGTTATTATAGCTCTGATGGTGACAGAAGTGATGAGTAACAACTCTCTTGTGTGTGTCACAGTCATCCTCGCTGTTCTCCATGGCTTGAATCAGACGCCGCAGTTGCAGCGAGCTTAGTAGGCTTATATACACGCTTGACAGAGACTTTACATGAGAAATTCAAAGGTAAACACTCAGGGGAACACGCCAACATGCTTATGTGATGATTCATTCAGGCGTTTTCTGTCTGATTTTTTTTGTACACACAAAAAATAAAATTATTTAGAAATGGTATCTGTTATCTGTTATCATGTTATCTTTGTTTAGTTGTTAATGCATCTTATTTTTGGTGCAGATCGCTTGTTGCCAGGACAGAGAGGAGCTCTGT[G/A]GCTTCATCTCATGTTTTACTGTGAGACCTGCACTTCTCCTAAAATGCCAGAGTATCTGCTGTACACCTACCACACTGAGTACAGCCGTTTGCCCTGGAAGGACCTGCATCCAGATCAGACACTAATGAACCAGTTTTTCAATGTAAGAGACTGACAATATCTCTAAATCAAGAGTATCATGTCAATCAAATATTTTATTGTGGACCTAAAGATATATATTAATATACTCTATTCCAATCTTTCCAGAAGGTTCTTAATCCTGCATGAAAAAACAAATATAGAAACCCAAGAATTCGTTATGATGTAATCACTGTAAAAACATTAAGTCTTGAAATAATACATTCCAAAACACACTAAAAGACATTCAATTGTATTGGTTTTAATGGTTAAAAGTTTAATTGTATTTTTTGTAAAAACCAATAGTATATGTAGTTTAGCAGGAACATTAATTATTTAAAAAGTTTCTTATATTCATCAAAGCATTACTGATCAAAAATATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14095
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083644 | Essential Splice Site | 2243 | 2341 | 43 | 44 |
| ENSDART00000144525 | Essential Splice Site | 2434 | 2532 | 42 | 43 |
Genomic Location (Zv9):
Chromosome 5 (position 43203531)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 40984796 |
| GRCz11 | 5 | 41584949 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGAATTRTGTGAAAAGTGTGCCTCACATCCTCTGCTCTTCCGTTGTTTG[A/G]GGTTTCGGGTTGTGGCGCGCAGCATGTCAGCCTTTCTGCTGGTTCAGGTG
Long Flanking Sequence:
TGCATGAAATCATGCCACATAATAGAAGTTTGTGCAACCTGCAGTTCACATCAAATATCTGTGAACACAACCAGGTTTAGTGCTGACATCCGTACTGTGCTGAATGTGTGTGTCGTGTGTTCCTGCAGTGGTCCAGCTGATGAGGCCAAGCTGTTTTTATGGTGGCATAAATTCTTGGAGCTTCTGCAAATCCAAGTGGACCAAGAGGATGCCTGCTCACTGGACACTCTCATTCTCACCTTAATGGCGTTTCAGAATCGTCTCGTTCAACTCGGAGAGGAAAGACTAAATTCCGGCATCCTGGGAGCCATTGGCCTTGGGAGGAAATCACCACTTTCTAACAGGTGAGAAAAGTTTGAGAGGTGGAAAACTGCTTGGACTATAGTTTTGGTTTTGTATCAATGTAGCAAGTAAAAGATGACAACTAGTTTCAGATCAAATACATGACAGGTGAATTGTGTGAAAAGTGTGCCTCACATCCTCTGCTCTTCCGTTGTTTG[A/G]GGTTTCGGGTTGTGGCGCGCAGCATGTCAGCCTTTCTGCTGGTTCAGGTGCCCTCAGAGAATCAGCTGCGTCTTCATCCCGGGACAGAGCTGCAGCTGTCAGCTAAAGCCCAGCAGGTGAGAGCTTCACAAACCGCTTCAAACCAAAAACTAAGTCAAGTTGTTGTGTATACACCGCAACATCTGACACAGTATGGAAAATATGTTTCCAGAAGATTTCTCCATTCTGTTTTGTAGATTATATTATTTTATAAAAATAAAAGTATTTTAAAATAGTTTGCACAGCCAAAAATGTTGATTGTTTAGTGTGGCTGAATGCATGTAAAACACATATTTAGCTTTTTTAAACGCAAAATTGTCTTTGCCATAAACAATCTTCTTTACTAAAGCATAATTTAAAGCACAGTCATTTATATAAGATTTACTGCTTGATGATAATAGAACTACAAATCATGATTACAGAAGGAACCAATGAAAGGGAATATATGAAGGTAATAAGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17986
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083644 | Nonsense | 2258 | 2341 | 43 | 44 |
| ENSDART00000144525 | Nonsense | 2449 | 2532 | 42 | 43 |
Genomic Location (Zv9):
Chromosome 5 (position 43203486)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 40984751 |
| GRCz11 | 5 | 41584904 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTTGRGGTTTCGGGTTGTGGCGCGCAGCATGTCAGCCTTTCTGCTGGTT[C/T]AGGTGCCCTCAGAGAATCAGCTGCGTCTTCATCCCGGGACAGAGCTGCAG
Long Flanking Sequence:
TCACATCAAATATCTGTGAACACAACCAGGTTTAGTGCTGACATCCGTACTGTGCTGAATGTGTGTGTCGTGTGTTCCTGCAGTGGTCCAGCTGATGAGGCCAAGCTGTTTTTATGGTGGCATAAATTCTTGGAGCTTCTGCAAATCCAAGTGGACCAAGAGGATGCCTGCTCACTGGACACTCTCATTCTCACCTTAATGGCGTTTCAGAATCGTCTCGTTCAACTCGGAGAGGAAAGACTAAATTCCGGCATCCTGGGAGCCATTGGCCTTGGGAGGAAATCACCACTTTCTAACAGGTGAGAAAAGTTTGAGAGGTGGAAAACTGCTTGGACTATAGTTTTGGTTTTGTATCAATGTAGCAAGTAAAAGATGACAACTAGTTTCAGATCAAATACATGACAGGTGAATTGTGTGAAAAGTGTGCCTCACATCCTCTGCTCTTCCGTTGTTTGAGGTTTCGGGTTGTGGCGCGCAGCATGTCAGCCTTTCTGCTGGTT[C/T]AGGTGCCCTCAGAGAATCAGCTGCGTCTTCATCCCGGGACAGAGCTGCAGCTGTCAGCTAAAGCCCAGCAGGTGAGAGCTTCACAAACCGCTTCAAACCAAAAACTAAGTCAAGTTGTTGTGTATACACCGCAACATCTGACACAGTATGGAAAATATGTTTCCAGAAGATTTCTCCATTCTGTTTTGTAGATTATATTATTTTATAAAAATAAAAGTATTTTAAAATAGTTTGCACAGCCAAAAATGTTGATTGTTTAGTGTGGCTGAATGCATGTAAAACACATATTTAGCTTTTTTAAACGCAAAATTGTCTTTGCCATAAACAATCTTCTTTACTAAAGCATAATTTAAAGCACAGTCATTTATATAAGATTTACTGCTTGATGATAATAGAACTACAAATCATGATTACAGAAGGAACCAATGAAAGGGAATATATGAAGGTAATAAGAGGATTTAGTTTTATGTTGTTAAATGAGGAAAGTAATTTCTCATATT
Associated Phenotype:
Not determined