ZMP
slc4a4a
Ensembl ID:
ZFIN ID:
Description:
electrogenic sodium bicarbonate cotransporter 1 [Source:RefSeq peptide;Acc:NP_001030156]
Human Orthologue:
SLC4A4
Human Description:
solute carrier family 4, sodium bicarbonate cotransporter, member 4 [Source:HGNC Symbol;Acc:11030]
Mouse Orthologue:
Slc4a4
Mouse Description:
solute carrier family 4 (anion exchanger), member 4 Gene [Source:MGI Symbol;Acc:MGI:1927555]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa6999 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa30864 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa40542 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6999
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 |
|---|---|---|---|---|---|
| ENSDART00000041503 | Essential Splice Site | 273 | 1082 | 7 | 26 |
| ENSDART00000124336 | None | None | 444 | None | 12 |
The following transcripts of ENSDARG00000013730 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 47417106)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 45205846 |
| GRCz11 | 5 | 45805999 |
KASP Assay ID:
554-5011.1 (used for ordering genotyping assays)
KASP Sequence:
TGACATCAAGCAGCCTGAACGATATCTCWGACAAGCCAGAGAAAGACCAG[G/A]TWAGTGTGTTTTCARAATGTACTGTATACACATGCACCAAATGTGAAAAA
Long Flanking Sequence:
TTCTGTGTCATTGGGAACACTTTGCTTCGCTGTCCTGATCCTGTTCTCCTGCAAATGCTTTTTACAGCATGATGCCAATGATTTGGGTTCTGGAAGTAGGTTCCTTTCTTGCTTGACACATCGCTTTTTTCTAATTTGAATCATTTTAGTATAAAATGCATGGACTTTAGGAAATTAAGAGTTTTATAAAAAGTACTCATATTCTGTACAGTGTTGTCAGTCTCATTGGTTTCCAATTGGTTTTACTGTATCTATCATCTATCATGTTGGTTTTATCTATCATCTATCATGTGAGATGTTCTGGTTTTTCTGCATTTGGGTTATTTCTGTAAATGTGTATTTTCTTTTTTTAAATTTAGTAACCGGTGTTTATTTAATTTGTGGCTGTATCACTCAACCAATGTTTTCACAAATTTTGCTCAGGCAGCCCAACCACTGCACATCGCAACCTGACATCAAGCAGCCTGAACGATATCTCAGACAAGCCAGAGAAAGACCAG[G/A]TAAGTGTGTTTTCAAAATGTACTGTATACACATGCACCAAATGTGAAAAAAAAATTAGATTTATGTTTCAATTTTTAATGCTTTTACTTAGGAAAGATGTTTACCAAAAGGGCCAGTAAAGACATTTATAATGTTACAAAATAGTTAATTTTCAGATAAATGCTGTAAAGATTGTTTAGGTAATCTGGTACTTTTCATAAAATATATATATTTTTGTAAATTATAAAATATTGCACTAGCTTTCATAGTAATCAGAGTGTTCACAGGGTCCTAAAAAGTATTAAAAGTTGTTGAATCAATTACAAGTTTTTAAAAAAATCTTAATTACATTTTTACGAGGTCTTAACTTTTGTTCAAGCGTTGTCCAAAGTGTTTGGCTCCAAAAAAAGCATAAATATATTTATTTTTCTCCTAATATTAACAATTGCGTGCTCGATCCACATGATTGGTTCTGGCTGGGGCATGTCCAGCCAACCTCCTCCATCCGGGTGATGTCACAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa30864
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 |
|---|---|---|---|---|---|
| ENSDART00000041503 | Nonsense | 368 | 1082 | 10 | 26 |
| ENSDART00000124336 | None | None | 444 | None | 12 |
| ENSDART00000041503 | Nonsense | 368 | 1082 | 10 | 26 |
| ENSDART00000124336 | None | None | 444 | None | 12 |
The following transcripts of ENSDARG00000013730 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 47406075)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 45194815 |
| GRCz11 | 5 | 45794968 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCTCTCATCAAGGTCTTCCATGAAATTGCGTATAAAGCCAAGGACAGA[C/T]AAGATCTCCTCGCTGGCATTGATGAGTTCTTGGATGAGGTCATCGTCCTT
Long Flanking Sequence:
CAGCATCATTTGATAAGGAATTTCTAATACTGCATTTGCACCACAGCATGTTTAGGTGGGATTGTCGTCATTGGTGAGTCATGATGCAAGTCAATGGTAATCATCGTTATGGGAGATGAGCAAGCATCAGGAAATGCTAAATTAATACCTGTGACTCCTATTGATGCATTGAGTTTTTATTAAATACCACCTGTGACATCTGGTTTGTAATTGAATCACTCTTTTGAACAGATTTGTTTCCAGCAAAGACTAGTTTATTTTCTTTATTTAAATCAATTTATTTGATTTTAGATGTGCAAAACTACCCATTTCATATCACTTCATACATTAACTGATGAATTAGTTATTTAGGCAAACTGTTGTCGTTCCTGATTGTACTCTGTGTGTGTGTGTATTCTTTTAAAAAAAGGATTGTGCTTTTATGGTCATGTGAGTTAGCCAGTAATCACAGTTCTCTCATCAAGGTCTTCCATGAAATTGCGTATAAAGCCAAGGACAGA[C/T]AAGATCTCCTCGCTGGCATTGATGAGTTCTTGGATGAGGTCATCGTCCTTCCTCCCGGAGAATGGGACCCTGCCATCAGGATAGAGCCTCCAAAATCCCTGCCATCCTCAGATAAGAGGTAGTTATTATGTATCTTTTTATGAGTAGCCAAAACATGGATAGTTCAACCAAAAATTAAATGCTGTCATCATTTACTCTCCCTTCATTTGTTCAAACCTGTTTGACTTTCTTTCCTCTGTTAAACACAAAAATAGATATTCTGAAGAAAGCCAAAAACGTGTAACCATTTACTTCTACACTATTTGTTCTAACAATTTTATTTTTCCACTATAGAAGTAAATGGTTACAGATTTTCAGCTTTTTTCAAAACATCTTCTTTTGTATTCGTCAGAAGAAATAAACTCATCAAGCTTTGAAACCACTTTAGGGTAAACAGAGTAAATGTTCATTGTTTGAAGTGAACTATCCCTTTAAGACTTAAGCAGTAATATAGTAAGATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40542
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 |
|---|---|---|---|---|---|
| ENSDART00000041503 | Nonsense | 368 | 1082 | 10 | 26 |
| ENSDART00000124336 | None | None | 444 | None | 12 |
| ENSDART00000041503 | Nonsense | 368 | 1082 | 10 | 26 |
| ENSDART00000124336 | None | None | 444 | None | 12 |
The following transcripts of ENSDARG00000013730 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 47406075)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 45194815 |
| GRCz11 | 5 | 45794968 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCTCTCATCAAGGTCTTCCATGAAATTGCGTATAAAGCCAAGGACAGA[C/T]AAGATCTCCTCGCTGGCATTGATGAGTTCTTGGATGAGGTCATCGTCCTT
Long Flanking Sequence:
CAGCATCATTTGATAAGGAATTTCTAATACTGCATTTGCACCACAGCATGTTTAGGTGGGATTGTCGTCATTGGTGAGTCATGATGCAAGTCAATGGTAATCATCGTTATGGGAGATGAGCAAGCATCAGGAAATGCTAAATTAATACCTGTGACTCCTATTGATGCATTGAGTTTTTATTAAATACCACCTGTGACATCTGGTTTGTAATTGAATCACTCTTTTGAACAGATTTGTTTCCAGCAAAGACTAGTTTATTTTCTTTATTTAAATCAATTTATTTGATTTTAGATGTGCAAAACTACCCATTTCATATCACTTCATACATTAACTGATGAATTAGTTATTTAGGCAAACTGTTGTCGTTCCTGATTGTACTCTGTGTGTGTGTGTATTCTTTTAAAAAAAGGATTGTGCTTTTATGGTCATGTGAGTTAGCCAGTAATCACAGTTCTCTCATCAAGGTCTTCCATGAAATTGCGTATAAAGCCAAGGACAGA[C/T]AAGATCTCCTCGCTGGCATTGATGAGTTCTTGGATGAGGTCATCGTCCTTCCTCCCGGAGAATGGGACCCTGCCATCAGGATAGAGCCTCCAAAATCCCTGCCATCCTCAGATAAGAGGTAGTTATTATGTATCTTTTTATGAGTAGCCAAAACATGGATAGTTCAACCAAAAATTAAATGCTGTCATCATTTACTCTCCCTTCATTTGTTCAAACCTGTTTGACTTTCTTTCCTCTGTTAAACACAAAAATAGATATTCTGAAGAAAGCCAAAAACGTGTAACCATTTACTTCTACACTATTTGTTCTAACAATTTTATTTTTCCACTATAGAAGTAAATGGTTACAGATTTTCAGCTTTTTTCAAAACATCTTCTTTTGTATTCGTCAGAAGAAATAAACTCATCAAGCTTTGAAACCACTTTAGGGTAAACAGAGTAAATGTTCATTGTTTGAAGTGAACTATCCCTTTAAGACTTAAGCAGTAATATAGTAAGATA
Associated Phenotype:
Not determined