ZMP
si:dkey-24h22.4
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to H.sapiens SLC5A7, solute carrier family 5 (Choline transporter), member 7 (
Human Orthologue:
SLC5A7
Human Description:
solute carrier family 5 (choline transporter), member 7 [Source:HGNC Symbol;Acc:14025]
Mouse Orthologue:
Slc5a7
Mouse Description:
solute carrier family 5 (choline transporter), member 7 Gene [Source:MGI Symbol;Acc:MGI:1927126]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa6594 | Nonsense | Confirmed mutation in F2 line | Not yet available |
| sa39640 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa38275 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6594
Status:
Confirmed mutation in F2 line
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114975 | Nonsense | 78 | 595 | 2 | 9 |
| ENSDART00000147201 | Nonsense | 78 | 584 | 2 | 8 |
Genomic Location (Zv9):
Chromosome 1 (position 33877720)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 33512471 |
| GRCz11 | 1 | 34245039 |
KASP Assay ID:
554-4562.1 (used for ordering genotyping assays)
KASP Sequence:
GCAACGTGGGTTGGTGGAGGKTACATCAAYGGTACAGCAGAATATGTATA[T/A]CTGCCCGGGTTCGGCTTGGCGTGGGCACAGGCTCYCTTCGGATATGCGCT
Long Flanking Sequence:
TATATATATATATATTGCACATACAGTGCTCAGCAAATGAGAGTACCCCCCCCCCCCCCCACCCACAAATCTCTTATTTAAATTACAATAAGCTTTACAATATTATATTGTTGCACATGCATTAGTTTAGTCAGTACTGAAGCCAAATCTGGAGATTACCTAACAAAATTACTTACAATCAAATTTTCTTATGGAAAAATATGAAATACAAATTATTAAAAAATAGCAAAAATCAAGAGAAACTAAATATACAAAGAATTCTGTTACAATTTTGTGGTTTGTAAATTTGTTTGCAATATTTTGCATGAATTTAAATGTATTATCTTTCCATTTCTAAAGATGTTCTGTGATCAGTAATCTATCTATCTATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTAAATGTTTATATTAACAATATGTTTTTCCAGCAACGTGGGTTGGTGGAGGTTACATCAATGGTACAGCAGAATATGTATA[T/A]CTGCCCGGGTTCGGCTTGGCGTGGGCACAGGCTCCCTTCGGATATGCGCTTAGCCTTGTTTTGGGTATGTTGCGCATCTACGGCAGCTTTGATAAATCATCACAGAAACATAATTTCAGTCTTAAAGTAATTTCTGTCTATTGATTCATGTCAAGGTGGCCTTTTCTTTGCTAAGCCCATGCGCTCTCGGGGTTACGTCACCATGCTTGACCCCTTCCAGCAACTGTATGGAAAGCGGATGGGTGGTCTGCTGTTCATCCCTGCACTAATGGGGGAAATGTTCTGGTCAGCCGCAATCTTATCTGCCCTCGGTAAGAAAAAAAAAGGAGGAAAACAATTAATGTGTTTTACAAGCTCTCTCATCAATGTATAGGACAAATTCTACAAATACATTTTATAACATATTTAAACATAAGGCAAAACATTGTCGTGCATTGTTAAATTCAGAGATTTTTGGGTATTTTCCTTTTTTCTCAGTCTGATGGGAAGAAAACAGCAAA
Associated Phenotype:
This allele has been associated with this phenotype by genetic linkage analysis and may not be causal.
See FAQs for more info.
See FAQs for more info.
| Stage | Entity | Entity | Quality | Tag |
|---|---|---|---|---|
| Hatching:Long-pec ZFS:0000033 |
locomotion GO:0040011 |
circling PATO:0001911 |
abnormal PATO:0000460 |
|
| Hatching:Long-pec ZFS:0000033 |
thigmotaxis GO:0001966 |
decreased intensity PATO:0001783 |
abnormal PATO:0000460 |
|
| Hatching:Long-pec ZFS:0000033 |
trunk ZFA:0001115 |
decreased thickness PATO:0000592 |
abnormal PATO:0000460 |
|
| Hatching:Long-pec ZFS:0000033 |
whole organism ZFA:0001094 |
anterior/posterior axis BSPO:0000013 |
increased length PATO:0000573 |
abnormal PATO:0000460 |
Mutation Details
Allele Name:
sa39640
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114975 | Nonsense | 93 | 595 | 2 | 9 |
| ENSDART00000147201 | Nonsense | 93 | 584 | 2 | 8 |
Genomic Location (Zv9):
Chromosome 1 (position 33877765)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 33512516 |
| GRCz11 | 1 | 34245084 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTATATCTGCCCGGGTTCGGCTTGGCGTGGGCACAGGCTCCCTTCGGATA[T/A]GCGCTTAGCCTTGTTTTGGGTATGTTGCGCATCTACGGCAGCTTTGATAA
Long Flanking Sequence:
CCCCCCCCCCCCCCCACCCACAAATCTCTTATTTAAATTACAATAAGCTTTACAATATTATATTGTTGCACATGCATTAGTTTAGTCAGTACTGAAGCCAAATCTGGAGATTACCTAACAAAATTACTTACAATCAAATTTTCTTATGGAAAAATATGAAATACAAATTATTAAAAAATAGCAAAAATCAAGAGAAACTAAATATACAAAGAATTCTGTTACAATTTTGTGGTTTGTAAATTTGTTTGCAATATTTTGCATGAATTTAAATGTATTATCTTTCCATTTCTAAAGATGTTCTGTGATCAGTAATCTATCTATCTATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTAAATGTTTATATTAACAATATGTTTTTCCAGCAACGTGGGTTGGTGGAGGTTACATCAATGGTACAGCAGAATATGTATATCTGCCCGGGTTCGGCTTGGCGTGGGCACAGGCTCCCTTCGGATA[T/A]GCGCTTAGCCTTGTTTTGGGTATGTTGCGCATCTACGGCAGCTTTGATAAATCATCACAGAAACATAATTTCAGTCTTAAAGTAATTTCTGTCTATTGATTCATGTCAAGGTGGCCTTTTCTTTGCTAAGCCCATGCGCTCTCGGGGTTACGTCACCATGCTTGACCCCTTCCAGCAACTGTATGGAAAGCGGATGGGTGGTCTGCTGTTCATCCCTGCACTAATGGGGGAAATGTTCTGGTCAGCCGCAATCTTATCTGCCCTCGGTAAGAAAAAAAAAGGAGGAAAACAATTAATGTGTTTTACAAGCTCTCTCATCAATGTATAGGACAAATTCTACAAATACATTTTATAACATATTTAAACATAAGGCAAAACATTGTCGTGCATTGTTAAATTCAGAGATTTTTGGGTATTTTCCTTTTTTCTCAGTCTGATGGGAAGAAAACAGCAAAAACACACTTTTAGTGTCTCTTTTAAAGCACTTTATCAGTTTGAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38275
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 |
|---|---|---|---|---|---|
| ENSDART00000114975 | Essential Splice Site | 303 | 595 | 6 | 9 |
| ENSDART00000147201 | Essential Splice Site | 302 | 584 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 1 (position 33886425)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 33521176 |
| GRCz11 | 1 | 34253744 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCATGGCTATTCCCTCTGTCCTGATTGGAGCCATAGGGGCTTCCACAG[G/A]TAAAACAGAACCAGAATACTTCTTCTTCTCTTTTTCATCTATCTATCTAT
Long Flanking Sequence:
TTTGTTTTTGTTTTAAATCTGAATTCAACGGTATTCTCAGAGTTCATCCGTTGAATATTAAAAGTCATCTTATTGGTATTAACAAAGGATTTCAGCAGATCATCAATAACCCCAAACACTAGAAACAAGTCTTTCTGCATTGATAATACTGATAAATATAGAATATTGAATAGTGAATATTACGGTACTGCAGAGAATAGCTTTTTGTAAAATCCATCTACTGGCATTCATTCAACTTATTTTAAAAAACATTTGATTTTTTTTTTCTAAATTATATAAACTCTTGATATTGTACAGTATTGTACATGTCTGTTGTCTGTATTTACAATGATGTTTCTGTTCCTAGATGTTGGGGGGGATTCCCTGGCAGGTGTATTTTCAAAGGGTTCTTTCTGCCTCTTCAGCTACCTATGCTCAAGTCCTTTCCTTCCTGGCTGCCTTTGGCTGCATCATCATGGCTATTCCCTCTGTCCTGATTGGAGCCATAGGGGCTTCCACAG[G/A]TAAAACAGAACCAGAATACTTCTTCTTCTCTTTTTCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTGTACATGTGAATTGGGTAGGCTAAAATTGTCCATGGTGTATGTTTGTGAATGAGAGTGTATGAGTGTTTCCCAGTGATGGGTTGCAGCTGGAAGGCCATCCGCTGCATAAATACATATGCTGGATAAGTTGGCAGTTAATTTCGCTGTGGCGACCCCAGATTAATAAAGGGACTAAGCTGAAAATAAAATAAAAGAAAGAATCTTGATTACATCATCTTAAACTAAGTAAAAAGTATTACTTTTTAATAGTATATATATATATATATATATATATATATATATA
Associated Phenotype:
Not determined