ZMP
zgc:123105
Ensembl ID:
ZFIN ID:
Description:
UPF0498 protein KIAA1191 homolog [Source:UniProtKB/Swiss-Prot;Acc:A4QNZ7]
Human Orthologue:
KIAA1191
Human Description:
KIAA1191 [Source:HGNC Symbol;Acc:29209]
Mouse Orthologue:
4833439L19Rik
Mouse Description:
RIKEN cDNA 4833439L19 gene Gene [Source:MGI Symbol;Acc:MGI:1921162]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa9683 | Essential Splice Site | Available for shipment | Available now |
| sa9723 | Nonsense | Available for shipment | Available now |
| sa15363 | Nonsense | Available for shipment | Available now |
| sa12126 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9683
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 |
|---|---|---|---|---|---|
| ENSDART00000007675 | Essential Splice Site | None | 317 | 2 | 9 |
| ENSDART00000133099 | Essential Splice Site | None | 310 | 2 | 9 |
| ENSDART00000147318 | None | None | 239 | None | 5 |
Genomic Location (Zv9):
Chromosome 21 (position 31234258)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 32433728 |
| GRCz11 | 21 | 32466986 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAAAGATCAACCTGTGCTTTAGCAGTGGWGCGTCAGCTGCCATTCACTGG[T/C]AAGAGAGACATGTAATWATTTATGACACAAGATTTAATTTAAGGAGTCAT
Long Flanking Sequence:
TAACATTCAAGTCGGTATTCAGTAAAAGTGTTCTTTTTGTATTTCAACATTGACCGAAATGATGTTTGATAACAACGCTAACGATGGTTGTTTTGTTTGGCGCAGCTAGTCTGTTAGCTTTGTTGATGTAACGGGTATCAGGACTGAAAGCATTACGTAACATCACCAGGACAGCTGGTGTAATCCCAATGCCAACATGCACTGATTCCCACCACATTACTGCTCACTGTTGCGTTAACACTCAAATAGTGTGATTTAGGGATATTATATATCACGTTTAGGTGCATTTCTACTTTATGTGGCACTTTATATCTTCATTGTCGACTGGTTTATTATGCCGTCATTTATTTATAACTTGTTTTAATGGCTCCTTTGGCTCTTCTCCAGTTCTTTCTGCCTGTGCTCGACCTGGTGTCCCACAATGCTGAATAAGCAAACCCCAGCTTGTCAGAAAGATCAACCTGTGCTTTAGCAGTGGTGCGTCAGCTGCCATTCACTGG[T/C]AAGAGAGACATGTAATAATTTATGACACAAGATTTAATTTAAGGAGTCATAAACCACACTTTTGATATTTATTTATATACATCTATTGCAATATACATATCTAGGAATGGTTTTATTTTTAGATATCTTGTTTTTTCATTTTTCTTTGTCATGGCAAAAAGATACTAAAGCTGTCATTAGGGTCTGTCATTGGGCATAAAAGTGACCATATAGTTAAATAGTGGACACCACGTGAAGAAACACAATTAATACTTGTTTTGTAATGCCCCAATACAGTACATCTGGTTGGTGCACATCAAATAGAATAGGTCATTATCAAATAATAATAATACAATTTATATTGCTGATGGTAGTAGTAGTATTATTTTACTTATGTGGTGTCCATTATTTGACATCTAATACCAGGTAATAATTCAATGGTATTTTCTTTTTCTCTTTTTCTTATCTTCTTCTGTTTTTTTTTTATAAATATCAATACAGATTTTTTTGCCCATAGCTAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9723
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000007675 | Nonsense | 247 | 317 | 8 | 9 |
| ENSDART00000133099 | None | None | 310 | None | 9 |
| ENSDART00000147318 | Nonsense | 169 | 239 | 4 | 5 |
| ENSDART00000007675 | Nonsense | 247 | 317 | 8 | 9 |
| ENSDART00000133099 | None | None | 310 | None | 9 |
| ENSDART00000147318 | Nonsense | 169 | 239 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 21 (position 31228041)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 32427511 |
| GRCz11 | 21 | 32460769 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCCTCAAGTCAGCAAGTCCACTACTGACCCAGGTACASATCCAGACACAT[C/A]AGGYAAAGCACATGATGCAGTTTACCCTTTAAAAACWACTTCTGCCTWTC
Long Flanking Sequence:
ATGCTGTTCCTGCATTATTATGCCAGAATGGCAGTATAGTTCCAACTTAATAGGTAGAGGTTCCGCAGGCTCTTTCAGTAGGCTTTTTAAAACCATAAATTGTGTTTTGGATGTTGTAGAAGCTTCAAATGCAAAGCACGGATGCCAAAGAAGAGAGGCAGCCATCATCTAATCAGTCTACGCCTGCTGGGACCCCTCAATCCTCACCCAAGCAAAAGCGCAGGTGCTGAAACAGTCAATGGCTTCACACACTTTGTTTTGAATTAATCATGTTGACGGTTGAGAAACAAGGTGGTATTTGTGTGTGCGTGTGTTTGGCAGGGGTTGGTTCAACAGTCAGGGCTCCACCGCTTCTCTTACCGGCTCTGAGATGAGCACCAGCTCCAGTTCCAGTGTAGATCTGGCTTCAGCTGAGGGACCTATAGAGCGCTGGGGGGTTTTTGGACCTCGGCCTCAAGTCAGCAAGTCCACTACTGACCCAGGTACACATCCAGACACAT[C/A]AGGTAAAGCACATGATGCAGTTTACCCTTTAAAAACTACTTCTGCCTTTCTCTTTTAATCTCAAAATGATGCTTTTTGTTTAAGTAATTTAATTTGACTGTCAATGTAACAGTCAGAGATGAATACAATCAGCATGATTGCTCGGATATGATTATTATTTCTACTTTACATGAATGAAGGGTATGTAATAACAGTAGATTGTGGTGTTTTGGTCATAATGTTTTTTGTCGTAATCAAACTTATTGTTTCCAACCTTGTTGATTTGTTTCCAATCTACTCCTAAATTAATTGATGTACTTAAAAATCCAGTGTTTCCTGCAGTGACAATTTTGACAAACCTCATTAGACATTTTATTGCAATGAATGAGTAATTAAATGAAGTAATTAAACCATTAGATTGTACTTAGGATATTTGGAGTGACTAAAGCCTAAAGTTTACAACTTTTTTTTTTTTTTTGTCTATTTGCTCACTTGCATGAGCACTGGTACTTCAGACATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15363
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000007675 | Nonsense | 247 | 317 | 8 | 9 |
| ENSDART00000133099 | None | None | 310 | None | 9 |
| ENSDART00000147318 | Nonsense | 169 | 239 | 4 | 5 |
| ENSDART00000007675 | Nonsense | 247 | 317 | 8 | 9 |
| ENSDART00000133099 | None | None | 310 | None | 9 |
| ENSDART00000147318 | Nonsense | 169 | 239 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 21 (position 31228041)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 32427511 |
| GRCz11 | 21 | 32460769 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCCTCAAGTCAGCAAGTCCACTACTGACCCAGGTACASATCCAGACACAT[C/A]AGGYAAAGCACATGATGCAGTTTACYCTTTAAAAACWACTTCTGCCTWTC
Long Flanking Sequence:
ATGCTGTTCCTGCATTATTATGCCAGAATGGCAGTATAGTTCCAACTTAATAGGTAGAGGTTCCGCAGGCTCTTTCAGTAGGCTTTTTAAAACCATAAATTGTGTTTTGGATGTTGTAGAAGCTTCAAATGCAAAGCACGGATGCCAAAGAAGAGAGGCAGCCATCATCTAATCAGTCTACGCCTGCTGGGACCCCTCAATCCTCACCCAAGCAAAAGCGCAGGTGCTGAAACAGTCAATGGCTTCACACACTTTGTTTTGAATTAATCATGTTGACGGTTGAGAAACAAGGTGGTATTTGTGTGTGCGTGTGTTTGGCAGGGGTTGGTTCAACAGTCAGGGCTCCACCGCTTCTCTTACCGGCTCTGAGATGAGCACCAGCTCCAGTTCCAGTGTAGATCTGGCTTCAGCTGAGGGACCTATAGAGCGCTGGGGGGTTTTTGGACCTCGGCCTCAAGTCAGCAAGTCCACTACTGACCCAGGTACACATCCAGACACAT[C/A]AGGTAAAGCACATGATGCAGTTTACCCTTTAAAAACTACTTCTGCCTTTCTCTTTTAATCTCAAAATGATGCTTTTTGTTTAAGTAATTTAATTTGACTGTCAATGTAACAGTCAGAGATGAATACAATCAGCATGATTGCTCGGATATGATTATTATTTCTACTTTACATGAATGAAGGGTATGTAATAACAGTAGATTGTGGTGTTTTGGTCATAATGTTTTTTGTCGTAATCAAACTTATTGTTTCCAACCTTGTTGATTTGTTTCCAATCTACTCCTAAATTAATTGATGTACTTAAAAATCCAGTGTTTCCTGCAGTGACAATTTTGACAAACCTCATTAGACATTTTATTGCAATGAATGAGTAATTAAATGAAGTAATTAAACCATTAGATTGTACTTAGGATATTTGGAGTGACTAAAGCCTAAAGTTTACAACTTTTTTTTTTTTTTTGTCTATTTGCTCACTTGCATGAGCACTGGTACTTCAGACATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12126
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000007675 | Nonsense | 316 | 317 | 9 | 9 |
| ENSDART00000133099 | Nonsense | 309 | 310 | 9 | 9 |
| ENSDART00000147318 | Nonsense | 238 | 239 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 21 (position 31225924)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 32425394 |
| GRCz11 | 21 | 32458652 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCCGTCCTCACAAACTCAAACACCGGGACATGAACGTCCTCACACCATCT[G/T]GATTCTGAAAGAATCCCTCCCTCCATCCATCCACCTCTGCTGYACTCATA
Long Flanking Sequence:
CTCCATTTCAGAATAATTACAGATCCCAGACTTTATATCACATAATTTTATGTCTTACGGTGCATCATTTAGACCACCAATCGTCTCAAGTTTGTCCAATGCCTTCCACCTCTCCATTAACACTGCTCAAGTAATCAAATTTACTAACAGGAACTAACTTCTACTGCTACTGTATGTAAAACACAAAACTCTGCGGAGCAATTTTCACACATGCGTTTCTTTGGATGTTTGCGGTTCATCAGACTTCGCCCTTTCGTCAATGTCAACACACCCATCATCATTCCTGTGTGTTCACAGGGGGCTTTGCCCTGCAGTCCTATAAGGGCGCTCAGAAACCCACCCCAATGGAAGTAATGAAGGCCCAGGCCACCCGCCTGGCCGAAGATCCAACAAACTTCAAAGCTCCCCCTAAGATGGAGATCCCCACCATGGATGGAAAGAGACAGGTGACCCGTCCTCACAAACTCAAACACCGGGACATGAACGTCCTCACACCATCT[G/T]GATTCTGAAAGAATCCCTCCCTCCATCCATCCACCTCTGCTGTACTCATAGTGAACTTGTAGCTGGTCTACCCTCTCTCTAATTCCCCAGTGCTTTCATCATCACTGCTTTCCACATCAGACACGCATCATTTTGCTGGTGTCTCAAGTGAATGTTTGTCCTCAGAAGAAGTTGTGTGTACTTTCGTTGGTGCCATTGTCTTATTGGTAGCCTTTTTTCTTTCCATTCTAATTTATCAGTTTTAAAAGGGCCGGTTCACCCAAAAATGAAAGTTCTGCCACTTATTCACAAATAAATGCTCTCAAATGAAGGAATTCTGGATACTGTGAACATCAAAGGCTGCCAGTTTCCAACATGGTTCAAAGTGTTGTTTGTTTGCATGTGTGTACATGTTCAAAAGGAGAAGTCTTGAAACAAGTGTTAAATAGAACTTTTTTGGGGTGAACTATCCTTTAAAGTGTTATTTTGTTAGTATGTATGCAGGTTGTTTGTGCCTTGGT
Associated Phenotype:
Not determined