ZMP
KIAA1543 (2 of 2)
Ensembl ID:
Description:
KIAA1543 [Source:HGNC Symbol;Acc:29307]
Human Orthologue:
KIAA1543
Human Description:
KIAA1543 [Source:HGNC Symbol;Acc:29307]
Mouse Orthologue:
2310057J16Rik
Mouse Description:
RIKEN cDNA 2310057J16 gene Gene [Source:MGI Symbol;Acc:MGI:1916947]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa8735 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa39731 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa8735
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000128742 | Essential Splice Site | 945 | 1221 | 12 | 17 |
Genomic Location (Zv9):
Chromosome 1 (position 59920009)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 58397187 |
| GRCz11 | 1 | 59174067 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCACAAGAGCTCAAGAGACGAGCAAGRCAAGGGCAGGACCCTGAGAACAG[G/A]TAAGATCATCTGCACATTCAAATCTTCTCATATWGGACTTRCTTTATGGA
Long Flanking Sequence:
AGAGTCAGGCTCCAGTGACCACAACACTCCAATCTTCAGTCTTGAGCTAGAGGCTGGACCTCCGTCTGCACTCCCAGCGGAGCTGTTAGGAGGAGCAGGCAGCTCTGGAGCTCCATCAGAGTGCTCGTTTGAAAGTGACTTGCTTTTGAGCAGTGCCCCCGTGAAAGACGAGACGGAGGGTGCCGGAACGATGGGAGATGACACCGATTTAGAGCAGGGTGCAGAAATATTCTCATCAGATTCCATGAGTGACCAGACTGAGAGTGAGAGCCGGCTGGGACTTGATGTGTTTTTTAAGGTGTGTGAAGGTCTGCATGCTCTTTGCTTGAGTTTAGTGTCTGTGGTGTTTGTAAAGTGTGTTTTTTTTGTTTGGGCCTGTAGGAGGAGGGTCTCTCGGAGGAGGAGATGGCCCAGAAAAGGGCCCTGCTGTTGGAACGACAGCAAAGACGAGCACAAGAGCTCAAGAGACGAGCAAGACAAGGGCAGGACCCTGAGAACAG[G/A]TAAGATCATCTGCACATTCAAATCTTCTCATATTGGACTTGCTTTATGGAAACTCTCATCTCTGTTTTCTCTTACAGTCAACAGGCTTCCTTGGAAGACCTGCGACCGCAAACTCCACTGCTATCACAGTCTCTGCCCACCTTTTACACCCCACCTCCTCATTTGAATGCAACGCCCCCAGGCACGCCCCAGCGCTGGGGAGCATTCACACGGGCGGAGTATGAACGGCGCCATCAGCTGAAGATAATGGCTGATCTAGGGAAGGTTCTCAAACAGAAACCAACAAAGCAAAGTGGCAAAAAGCAGCATGCAAACAAACCACATAACCACGAGCTCATTCACACACGCTCACCTGGGAAGAGCAGCACAGGTAACCATGCACATCACAAGTGTTTCAAGATGAAGAGAGTAACTTCTGGCATCACAAAACCCAATTGGTTTTTGTTTGTATGAGTGAAAAATTAGTTTGCATTTACCTTATTTCCTTAGCCAACCAGAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39731
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 |
|---|---|---|---|---|---|
| ENSDART00000128742 | Nonsense | 1183 | 1221 | 17 | 17 |
Genomic Location (Zv9):
Chromosome 1 (position 59918805)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 58395983 |
| GRCz11 | 1 | 59172863 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCCTCATCAGCTGTGGAAGCCATTTATAAATACAGTTCTGATAGGAAA[C/T]AGTTCAATACACTTCCATCCCGCACTCTGAGCATGAGCGTCGACGCTTTC
Long Flanking Sequence:
CAAGCCTCCAACGCCTCCTCTCCAGCATCACTCCCAGAATACACAGGTAAAAGACAACATGGTGAATTTTTCTAAGTGAAGTTTAAGACAAATGTGACTAAACCACCTCTCTTTTTAGGTCCTAAATTGTTTAAGGAGCCCAGTTTTAAATCCAACAAGTTCATCATTCACAGTGCGCTCTCACGCTGCTGCCTTGCTGGCAAAGTCAACGAATCCCAGAAGAACAAGATCATCGAGGTGCGTCGCTGTTCAGTTCTCTCCACAGTCGTGACTCCTTCATGCACTTTTACAGTCTGTTTTCTCTCGCGTTTCTCTAGGAGATGGAGAAGAGCTCCGCCAGTCACTTTCTGATCCTCATGCGTGATTCCAACTGTCAGTTCCGTGCCATCTACACCCTAGACGGCCAGTCAGAGGAGCTGCACCGACTCTGCGGCGTTGGTCCACGGGTCATTTCCTCATCAGCTGTGGAAGCCATTTATAAATACAGTTCTGATAGGAAA[C/T]AGTTCAATACACTTCCATCCCGCACTCTGAGCATGAGCGTCGACGCTTTCACTATCCCTGGCCAGCTCTGGAACACTAAGAAACATGGCACGCCCAAAAAAGTAGCCACTCCCAAATAGACTCAGACCACTTAACCCAGGGGTGTCCACACTCAGTCCTGGAGGGCCGGTGTCCTGCAAAGTTTAGTTCCAAGCCCAATCAGACACACCTGCGCTAGCTTATCAAGCTCTTACTAGGCTTTCTAGAAACATCCATGCAGGTGTGCTGAGGCAAGTTGGAGCTAAAATCTGCAGGACACCGGCCCTCCAGGACAGAGTTTAGACACCCCACACTTATTTAGATAAAACTCTCCAGCTAAAACAGTCCCTCCTACAAAGTACACGCCCAGGTTGACTCAGGTGCAACAAGTACAAACCCCTTCCCACCCTCAAAAGAAGACACACCCTAATAGACCCCGCCCACTTAAACAGACCACACTCACTTAGATAGGAGTCCCACCC
Associated Phenotype:
Not determined