ZMP
LOC100333120
Ensembl ID:
Human Orthologue:
ITPKB
Human Description:
inositol 1,4,5-trisphosphate 3-kinase B [Source:HGNC Symbol;Acc:6179]
Mouse Orthologue:
Itpkb
Mouse Description:
inositol 1,4,5-trisphosphate 3-kinase B Gene [Source:MGI Symbol;Acc:MGI:109235]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa6337 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6337
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 |
|---|---|---|---|---|---|
| ENSDART00000075525 | Essential Splice Site | 28 | 292 | 2 | 6 |
| ENSDART00000114935 | Essential Splice Site | 38 | 278 | 3 | 6 |
Genomic Location (Zv9):
Chromosome 14 (position 6191306)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 5878303 |
| GRCz11 | 14 | 6185137 |
KASP Assay ID:
554-4695.1 (used for ordering genotyping assays)
KASP Sequence:
TGTTTTTGCAACATYCATTGACATACAATGCATTTTGCATGCTCTGTCTA[G/T]GTAATGTGAGGCTGAGTGAGGGCGGGGAGGTGCTGAAGAGGTTTTGTGAG
Long Flanking Sequence:
CTCGCAAAACGCTCAATTCGCCCCACGCCATTTGCGCAATTTGCGTCATTCGCGCCGCAGGATGTCTATTCGCGCGTTTGCATTGACTTAACATGTAAATCACTCACGCTTGACGCGTGTGCCGCGTCTGGTGTGAACGCAGCATCAGCGGTTTTCAGAGTAGTGGCTGGCAAGGCACTTTTAGGGGTATGTGGAATTTTTTGGGGGAAAAATCAAGTATTTTAAGATATGTGTGTGTATTAATTTTTTTTTTATTTTTCCCAGTGTCGATCTTGGAGAACGTTTTTGACCATGATGCAATGGTCCAAGCGTACACAAAGCTCATGGATCCAGCTAGCTGGACACCAAGGTATCATGCATTTCCAAAGGCATTAAATTTTCTTCTCATCAGAACTTGACTGTTTCCATCAAAATACATCATGTTAAAGATGTAAAACTGGTTTGAGCATTTGTTTTTGCAACATCCATTGACATACAATGCATTTTGCATGCTCTGTCTA[G/T]GTAATGTGAGGCTGAGTGAGGGCGGGGAGGTGCTGAAGAGGTTTTGTGAGGTGGAGGACATCTGTCTGCAGGCCCTCATGTCTGATGCGCTCTGTCAATTTGTGCCTCATTATTTCGGGCACATCAGCCAGGATGGAGAGAAATACATTCGTCTAGAGGACCTGCTTAGTGGTCTCAAAAACCCTGTCATAATGGACTGCAAAATGGGTGTCCGGTAAGAAACGAACTAACAGATTTACACTAAAACTGATTAATGATTAGTCTTTGGAGTCTCATAGAAGACAGCAAGAAAGAGCTAAAAGCCTGTAGAGATACTAAGACCATCTTTTCTATGACTTTCTAAGACATTGTTATAAATGGGGAAAAGTACAATGCTCAGGATGGCCACCACAGCGAAGAAATCCCACGTTCCAGTCCAAAATAGCCAATCATCAATTTCAATACCCACACCTTTATTTGACGGAGGGGCTGTGTACAGATTCACTTGTTTAATACAGCAA
Associated Phenotype:
Not determined