ZMP
slc5a11
Ensembl ID:
ZFIN ID:
Description:
sodium/myo-inositol cotransporter 2 [Source:RefSeq peptide;Acc:NP_001007301]
Human Orthologue:
SLC5A11
Human Description:
solute carrier family 5 (sodium/glucose cotransporter), member 11 [Source:HGNC Symbol;Acc:23091]
Mouse Orthologue:
Slc5a11
Mouse Description:
solute carrier family 5 (sodium/glucose cotransporter), member 11 Gene [Source:MGI Symbol;Acc:MGI:19
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45136 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa38380 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45136
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 |
|---|---|---|---|---|---|
| ENSDART00000048218 | Essential Splice Site | 46 | 668 | 3 | 16 |
Genomic Location (Zv9):
Chromosome 3 (position 18494002)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 18522364 |
| GRCz11 | 3 | 18672104 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACTTAACATCTTGTATATGGCATATTTATAACCTTTGCTCACCCAACA[G/A]TCCATGTGGAAGACCAAGAGGAGCACAGTGGATGGATATTTTCTAGCTGG
Long Flanking Sequence:
ACACAATACTTGTAAAAGCATGAAACATGAAAATAGCGTTCAGATAATGTACTTTATAATCAGCTAAGATATAAAGTCATGTCTTGATATAATTACACAGTGTTCATGTCAGAGTCTGTGTATGAGACAATCATAAACCCTGTGCTGTTTTAAAGAGACACGCGCCTGAGAAACTCCCTGGCCTCATGGCTGCCACTGAGGCTCCCGATGCGTCTCCTACTCCCACCAGTGATGGCACAGCACAACAGACCACCCTCGCCACCACAGATATAGTGGTGCTTGTCATCTACTTCCTCTTGGTACTGGCTGTGGGCTTGTGGGTACGTTTCCTGAAATCACAATCATGACCATGTAATTATACAGTGACCCCTTTAGGCTTTATATTCTTGTTCTTTTTGCAATGCTCAATAAAAAAACATTGCTGTGTAAATATTTTACTTATCACATTTATGACTTAACATCTTGTATATGGCATATTTATAACCTTTGCTCACCCAACA[G/A]TCCATGTGGAAGACCAAGAGGAGCACAGTGGATGGATATTTTCTAGCTGGCAAAAACATGACTTGGTGGCCAGTAAGTGAGTTCATCTCAGTCAAATAAACCATGTCCATATTACAAGTGATGATTCACACTAAAATAAGAACAAATAATAGATGAGTTGTACAGTTATTTTTGTTAACATTAGTTAGTTAATGCATTAGTTAACCCAAACTGTAGTGTACATTTTAAAACACGTATTAATCTTTGTTGATGTTACTTAATAAAAATACAATTGTTCATTGGTTATTCATGTTAGTTTACAGAGCCTTGGCTAAATATTCATATTTATAGCTTAAAACAGAAATTAACATTTATACTGTAGGATCTTTTCACAAATTCTGTTCATTTATGTTAATGCAGTGAACTCATGTTCACAAATGAAATCTTAATGTGAAGTTTGACCATTTTACTGTTTATTGTTTGTGTTTTTATTATTTTTCCAAAATGTCCATCTAGTTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38380
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 |
|---|---|---|---|---|---|
| ENSDART00000048218 | Essential Splice Site | 371 | 668 | 11 | 16 |
Genomic Location (Zv9):
Chromosome 3 (position 18486299)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 18514661 |
| GRCz11 | 3 | 18664401 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCTCGGACATCGCTTATGCTAAGCTGGTCATGGAGCTCCTTCCTGCAG[G/A]TATCTAATATTTTCCTAAATCAAGAAACATTTTCTAGACAAGTAAGAAAT
Long Flanking Sequence:
CTTTCTTACTGTGAAGCGACAGCACTACCTACTGCGCCACTGTGTCGCCCCTGCAAATATTATAATAATTATATAAAAATGCCTCTTAAGTGAGCTGATTAACCACCATAGCTTCTAAGTATCATTTATTTTGTTGTCATATCTGTGTGTAGGTGATAGTGCAGCGTTCACTAGCAGCTAAGAATATTCTGCATGCTAAAGGGGGATCTCTGCTGGCCGCTTACATCAAAGTTTTGCCCTTCTTCATGATGGTGATCCCAGGCATGATCAGCAGAATACTTTACCCAGGTGCACCACTGAAAATAAGGAAAGAAAAAATAAAAACACCCTGGCCTTTAGTGACTTTCCATATGTAAACATACAATTTGTCATGTTTTGTATGTCAATTGCAGACGAGGTGGGCTGTGGAGACCCGGAGGTGTGTAAAGAAGTTTGTGGGAATTCGGTGGGCTGCTCGGACATCGCTTATGCTAAGCTGGTCATGGAGCTCCTTCCTGCAG[G/A]TATCTAATATTTTCCTAAATCAAGAAACATTTTCTAGACAAGTAAGAAATATTGTCTTGTTTTCAGAAATAATGTCAAAAATTAAGTGAGTTTTTTCTGCAAAACAAGTAAAAATAATCTTTCAATATGCTAAGCAAAAAAAAGTGTTTCAAATCGAAAACAAGATTATTTTGCTTACCTCATTTGGCAGATTATTTTGCCTGCTTTAAGGAAAAACTCACCTAATTTTGACATTATTTCTGAAAATAAGACATTATTAACTTGCTTGCTTAGAAAATGTGTATTGATTTAGTAATTTTGAGATAATTGCACTAAACAAGAAAGTAAAATAAGAATGTGTCGCTGTGTTTTTCTTTAGATTTCATAAATGGACGAGTAATTTTCTTCCTGTGTGTTTGTGCAGGTCTGAGGGGTTTAATGATGGCGGTGATGTTGGCTGCGCTCATGTCCTCTTTGACCTCTATATTCAACAGCTCCAGCACTATTTTCACCATGGACCT
Associated Phenotype:
Not determined