slc4a5

Ensembl ID:
ENSDARG00000005966
ZFIN ID:
ZDB-GENE-091112-19
Human Orthologue:
SLC4A5
Human Description:
solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:HGNC Symbol;Acc:18168]
Mouse Orthologue:
Slc4a5
Mouse Description:
solute carrier family 4, sodium bicarbonate cotransporter, member 5 Gene [Source:MGI Symbol;Acc:MGI:

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa21891 Nonsense Available for shipment Available now
sa17754 Essential Splice Site Available for shipment Available now
sa10270 Nonsense Available for shipment Available now
sa9545 Nonsense Available for shipment Available now
sa6205 Nonsense Mutation detected in F1 DNA During 2018
sa41816 Nonsense Mutation detected in F1 DNA During 2018
sa16760 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa21891
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013784 Nonsense 58 1052 2 24
ENSDART00000142053 Nonsense 36 996 1 21
Genomic Location (Zv9):
Chromosome 11 (position 21444922)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 44980764
GRCz11 10 44827376
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATCGCAAACACGCGTCACGACATTCCCACGATCGCGATAAACACCATAGT[C/T]GACATGAACACGCGGATCCAGAGGAAAACTGCGACCCTGAGGAGGCCGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17754
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013784 Essential Splice Site 519 1052 None 24
ENSDART00000142053 Essential Splice Site 464 996 None 21
Genomic Location (Zv9):
Chromosome 11 (position 21401721)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 45023965
GRCz11 10 44870577
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
YGCCATTACTTTTGGGGGACTATTGGGGGACGCCACCGACAACTACCAGG[T/C]GCTGTTTTCATATACAGTGCACAGCATAAMCGAGTCCACCCTTCACAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10270
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013784 Nonsense 584 1052 14 24
ENSDART00000142053 Nonsense 529 996 12 21
ENSDART00000013784 Nonsense 584 1052 14 24
ENSDART00000142053 Nonsense 529 996 12 21
Genomic Location (Zv9):
Chromosome 11 (position 21395901)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 45029785
GRCz11 10 44876397
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACATCGACTACATGGAGATCCGTCTGTGGATCGGTTTGCACTCCTGCCTG[C/T]AGTGYCTGATTCTRGTGGCCACAGATGCGARTTATATCATCAAATATATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9545
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013784 Nonsense 584 1052 14 24
ENSDART00000142053 Nonsense 529 996 12 21
ENSDART00000013784 Nonsense 584 1052 14 24
ENSDART00000142053 Nonsense 529 996 12 21
Genomic Location (Zv9):
Chromosome 11 (position 21395901)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 45029785
GRCz11 10 44876397
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACATCGACTACATGGAGATCCGTCTGTGGATCGGTTTGCACTCCTGCCTG[C/T]AGTGYCTGATTCTRGTGGCCACAGATGCGARTTATATCATCAAATATATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6205
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013784 Nonsense 630 1052 14 24
ENSDART00000142053 Nonsense 575 996 12 21
Genomic Location (Zv9):
Chromosome 11 (position 21395761)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 45029925
GRCz11 10 44876537
KASP Assay ID:
554-5122.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCATCTTCATCTCTGACGCCCTYAAGAAGATGATGAGCACCTTCARCTA[T/G]TACCCCATCAGCCCAGACTTTAAGCCCGACCTCATCATYAGCTACAGGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41816
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013784 Nonsense 795 1052 18 24
ENSDART00000142053 Nonsense 740 996 16 21
Genomic Location (Zv9):
Chromosome 11 (position 21386761)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 45038925
GRCz11 10 44885537
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGTCCTGACCGTGGCTGGATCGTGATGCCGATGGGCAGGAACCCGTGGTG[G/A]ATGTGTTTGGCCAGTTTTGTTCCTGCTCTGCTGGTCACCATTCTCATCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16760
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013784 Nonsense 828 1052 18 24
ENSDART00000142053 Nonsense 773 996 16 21
Genomic Location (Zv9):
Chromosome 11 (position 21386664)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 45039022
GRCz11 10 44885634
KASP Assay ID:
2260-4193.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTTCATGGATCAGCAGATCACCGCYGTCATCGTCAACCGCAAAGARAAC[A/T]AACTCAAGGTGTTCAGTCACACAGCTGCTGTTAGATTTTGTTACCARAAA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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