ZMP
LOC100334642
Ensembl ID:
Human Orthologue:
CASKIN1
Human Description:
CASK interacting protein 1 [Source:HGNC Symbol;Acc:20879]
Mouse Orthologue:
Caskin1
Mouse Description:
CASK interacting protein 1 Gene [Source:MGI Symbol;Acc:MGI:2442952]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38219 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa44427 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38219
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 |
|---|---|---|---|---|---|
| ENSDART00000130451 | Essential Splice Site | 139 | 352 | 4 | 9 |
Genomic Location (Zv9):
Chromosome Zv9_NA86 (position 56229)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150646.1 | 56229 |
| GRCz11 | KN150646.1 | 56229 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGCTAAGAAGACTCCTCTGGATCTGGCCTGTGAGTTCGGCCGAGCGAAG[G/A]TCAGTAGTTTCAGCTGTGATGCGTCCTAATATCAGTGTTTATCTTCAATC
Long Flanking Sequence:
TCTTTCCAGTTTCACTTGGTTTTTACATTTTGTACCATAAGCCCAGCCCAGCAGAAACGCACTCGGCAGTGTGGGTGTGTGTGTGTGTGTGTGTGTTCACAGCACCTGTGAATGATCTGACATGACATCATCACACTGCAATGTACAGAAATAAGAGATCTGCATTGCGGCATCAACAAGTGACCCCAGATGGGTTTGTATTGTGCGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGCGAGGGAGCAAGGATAAGCTGCCTGTTATTCGTGTCGCTTGAATGAACAAACATGAAATGTTTTCACTTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTCAGTCGGAGATGCTGCTGCAGCACCAGTCGAACCCCTGTGTGTTAAACAAGGCTAAGAAGACTCCTCTGGATCTGGCCTGTGAGTTCGGCCGAGCGAAG[G/A]TCAGTAGTTTCAGCTGTGATGCGTCCTAATATCAGTGTTTATCTTCAATCGTGTGATGTCATCATTATCACTATGGCGATGATCTCATACATGACACGTTCTGCTCTTAGTTTGTTCATTCCGTCTCCACTGCAGCAGGACTTCAGATTCTATACTGGACATTATTTCTGTTCAGTGATGACACTTTAGTCTAAGCAGAGTCAGACCGCACTGTCCTAATGAAATCAGTCAAAATCAAGGCATGATCATATTATATTGAGCTCACATAAGCAAAATCTAGAGGCCTACAGTGCACTGAGCTGTATGCAATAACATTATGGGCCCTATCATACATCCGGCGCAGTGTGGCGCAAGGCGTGGCGCAATAGTCTTTTGGTAGTTTCAGCTTGGCGCAAGAGTGGTTTTGAGGCGTTGCGCTGCGCTGTTTAAATAGCAAATGCATTAGCGCTCATTTGTGCGCTCATAGGCGTTCTGCTCTAGAAAGGAAGGTGTTCTGAGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44427
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 |
|---|---|---|---|---|---|
| ENSDART00000130451 | Essential Splice Site | 287 | 352 | 8 | 9 |
Genomic Location (Zv9):
Chromosome Zv9_NA86 (position 72436)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 31737531 |
| GRCz10 | KN150646.1 | 72436 |
| GRCz11 | 24 | 31622139 |
| GRCz11 | KN150646.1 | 72436 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTTCACGACCCCACAGCCCTCACCATACGGGCCGGAGACGTCATCACG[G/T]TACAGACGCTTGCACTACACAATCTTAATATAGGGTCGGTGTGTGTTTGT
Long Flanking Sequence:
TTACTCTATACCTTGCATTTTTGTGTTAACGTTTAATAATATTCACTTGGGAGACGTGTTTTCTCTTTCTGATTCCAATGGCTCATTATTAAACCGTTAAAAAGACTATAATTCAATATTCTTCATCATAAAATATGATGTGCTCTTTGAAAGAGTGTACTTGCATTGTGATGATATTATATTGTCACTCTGGCATTATATACTGATAAAGTGGTCAATAATATCATTTATCGCAATTTACTTTGGTGCAATATATCCTATAACAAAAACTAGATATCATGACAGACCCATTGTTTACCGTCTGACTTGTACATTTCTGATGTTTTTACATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCAGAAGCGACAGGAGTTCTTCAGGTCAGAGCTCTGAAAGACTTCTGGAATCTTCACGACCCCACAGCCCTCACCATACGGGCCGGAGACGTCATCACG[G/T]TACAGACGCTTGCACTACACAATCTTAATATAGGGTCGGTGTGTGTTTGTGTGCTGCACTTGCACTGCACAACCTCAAAGGGACAGTTCGCCGCACAAAACAAAAGTTCTGTCATTATTTTATCATCCTTTACTCGATTCAAACCTGTAGGAGTTTCTTTCTTCTGTTGAACACAAAAGAAGATACTTTGAAGAATGCTGAAAACTGGTCATTAGTTTTTTTTTTTCTAATAAGGAAGTGAATGGTTACCGGTTTTTAGCATTCTTCAAAAACTCTTCTTTTGTGTTCAGCAGAGGAAAGAAACTCATAAAGGTTTGAAACCCCTGTAAATCCTGAGTCATTTTTCATTTTTGGGTGGACTAGTGCTATTTAGAGTCACAAGGAAAAGTAGCAGACACTGAAATGCATGCGGTCATGGTAATTAGGGGAAGAAACACTCAAAGCTCTTTTGTGTTTTGTAGTTTTATTAAAACATCCATGTTTGAAAGAAATACACACGT
Associated Phenotype:
Not determined