Busch Lab

ZMP

LOC572215

Ensembl ID:
ENSDARG00000075815
Human Orthologue:
SLC12A5
Human Description:
solute carrier family 12 (potassium/chloride transporter), member 5 [Source:HGNC Symbol;Acc:13818]
Mouse Orthologue:
Slc12a5
Mouse Description:
solute carrier family 12, member 5 Gene [Source:MGI Symbol;Acc:MGI:1862037]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa20830 Essential Splice Site Available for shipment Available now
sa13981 Nonsense Available for shipment Available now
sa44651 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa31545 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa20830
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
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057258 Essential Splice Site 369 1071 8 25
Genomic Location (Zv9):
Chromosome 6 (position 55368463)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 55474548
GRCz11 6 55485869
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACCTCCTTCTTTACCATGTTAGTGGGCATCTACTTCCCTTCAGTGACAG[G/A]TTAGTCACTTCCTCACAATGTGATCTCATTCAGCATTCATGACTGGGAAA
Long Flanking Sequence:
ATATTTTTTCTTCTGGAGAAAGTCTTATTTGATTAATTTCAGCTAGAATAAAAGCCGTTTTTAATTTTTTTAGAACCATTTTAAAGTCAAAATATTTTTTTTCGACTGTCTACAGAACAAACCATCATTATACAATATAACTTGCCTTACTAACTTAGTTAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTATCTTGAAAAATTGCCTCACGTTTGTTGCGAATAGCCAAATTGCTTGTCCCAATCTTGTCGTTTAACGTGTAGTTGGGAAATGGAGAAATTTGTAAAATGTACAAGTAATCTAAATGTGCAAATTTCCCTCTTCCAGAGAATCTCTTTGGGAATTATATGGATAAGGGAGCGTTCATTGAGAAGACTGGATTATCATCTGTGGTTGAACCTGATTCCATCCCAACCAACACTAACCGATATGTGCTGGCCGACATTACCTCCTTCTTTACCATGTTAGTGGGCATCTACTTCCCTTCAGTGACAG[G/A]TTAGTCACTTCCTCACAATGTGATCTCATTCAGCATTCATGACTGGGAAAACTGATCTTGTCCACTGTGAAAAATGCTCCACTTAATTCCTTCATGTTGACCCAACACAAATTAAGTTAAAGCTTAATTGTTTTTACACATTTAAGTGGATTGATCATAAAACTATTAAGTTGTCCAAAACAAATCGCAGGAATTGTGTTGTTTCAACTCATTTTATTTCAGTAGTTTGAACAAAAAGCAAAAGTAATTTATGTGTGAGGGATGTTTGGGAATGAAGACACCAAGTGATAAGGTGTTTCATGTGTAATTTTGTCCTATTCTTTTTGCAAACAACAGTACGGGGTCTTCATTATCTAATTTTATGCTTTAAAATACACCACACATTCTCTATTGGAGACAGGTCGGGACTGCTGGCAGGCCAGTCAAGTACCTTTATCCTCTTCCTCTGCAGCCAGGACCATGTAATGTGTGCAGATTGCGGTTTTGCATGTCGTGTTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13981
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057258 Nonsense 587 1071 14 25
Genomic Location (Zv9):
Chromosome 6 (position 55354400)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 55460485
GRCz11 6 55471806
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCCTGGTACTACGCCATTGTTGCAATGGGCATCGCCGGCTGCATCTAC[A/T]AGTATATCGAGTTTCGAGGGTAAGTGGATTGTGACCCAGAGTCGAGGGAA
Long Flanking Sequence:
CCTCTAAAAGTGTCAGTATTTGTGTATTATTTTGAGCTGAAACTTCACACACATACACACTCTAGGGCAGGGGCGTCCAAACTCGGTCCTGAAGGGCAGGTATCCTGGAGAGTTTAGCTCCAACCCTAATCAAACACACCTGAAGCAGCTAATCAAGCTTTTAGTAAATATATTAGAAACTTCCTGGCAGGTGTGTTGAAGCAAGTTGGAGCTAAACTATGCAGGACACCGGCCCTCCAGGAACGAGTTTGGACACCTCTGCTCTAGGGACATCAGAGACTTATTTTACATCTTGTAATATAAAGTAATAGGTTAATAGGGGCATAATAGGTCCCCTTTAAATGATGATGGTACTAATTATATTCATTTTTGTCATGTGTGTCTTTCTCTTGTCCTCCAGGACTCTGTCTTTTCTAGGCATGAGTCTGTGTCTCTCGCTCATGTTCATCTGCTCCTGGTACTACGCCATTGTTGCAATGGGCATCGCCGGCTGCATCTAC[A/T]AGTATATCGAGTTTCGAGGGTAAGTGGATTGTGACCCAGAGTCGAGGGAAAGATGGAAAAACCCCACAAGATGGATTAGAATTAAGTGTTAGCCGTTTGACCTGTCAGGGTTTTCAGATCCCTCCTAATCCGGCTGGTCAAGAAACAGCTGAAATCTGCTCCAGGATTTGATTAGTTTACTGCCTTTCCTTTTGAAGCTTTACTGGAGTGAAGCCGAGCACTGACCCGAGTCTGGCGCCGGAAATGAAAGACTGAAAACTGGAGACAGATTATAGAGTCTGAGGCTGTGCTCAAATACACTGTATACTTGAGAAATACTGAAGAAGATGCATGTGCTTGGTTTATTCTGTATTGCACGGCATGCTGAAGCGAATATACATTCATTCATTCATTCATTTTCCTTCGGCTTAGTCTCTGATTTATCTGGGGTCGCCACAGCGGAATGAACCACCAACTATTTCAGCATTGGTTTTACGCAGCGGATGCCCTTCCAGCTGCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44651
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057258 Essential Splice Site 628 1071 16 25
Genomic Location (Zv9):
Chromosome 6 (position 55352304)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 55458389
GRCz11 6 55469710
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTCTGAAAATTCTGAATGTTTGTATTTAAAAAGATCTTCTGTTGTCCTT[A/G]GACCTCAGATTTTGGTTCTGGTGAACATGGACGGGGAGCTGAAGGTGGAT
Long Flanking Sequence:
ATAATAATAATTTAATACTCATTTTTTATTTAATTACAATATTTATTTCATTAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAACACAGTTAAAGTTTAATAAATACTATTATTATTATTATTATTATTATTATTATTATATTATAATAATAGAAATAAAATCATGGAAAAAAAATTCATGGTAATTTAATACTTTGTTTTTTTATATTATTTTAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGTATATATATATAGTATAATAGTATACCAAGGTTTTCCTTTTTTATTATTAAAACTAAATATGGTACAACAACACTATTTTGCTATTATTATTGTATTTATTTAAATAATTTTTCAGCAGATTTGTTTTTTTAAGTCTGAAAATTCTGAATGTTTGTATTTAAAAAGATCTTCTGTTGTCCTT[A/G]GACCTCAGATTTTGGTTCTGGTGAACATGGACGGGGAGCTGAAGGTGGATCAGCCCCGAATGCTGTCTCTGACCAGTCAGCTGAAGGCTGGCAAGGGTCTGACCATCGTGGGCACAGCGCTTGAGGGAACATACCTGGAGAACCATGATCAGGGACAGCAGGCCGAACAGGTGACCTTCTCTCATACACAAAGACTATAACCAAAGGCCAACAAAAACAGCCCCAACATAACAAAAGGGTCATCAATGTAAACAATACACAAGGGTTAAACATCACTTGGCAAATATTTGAAAATAAAACAATAATAGGCTTTGATTTGATCCGAATCCGTTTCTTCTTGTGTGGTGTGTCAGTCTCTGAGGAAGCTGATGGAGACGGAGAAGGTGAAGGGCTTCAGTCAGGTTGTGATCTCCTCCAACATGAGAGATGCCATGTCTCATCTGGTCCAGGCTTCGGGTCTTGGTGGTCTTCAACACAACACTGTTCTGGCCAGCTGGCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31545
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
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057258 Nonsense 1018 1071 24 25
Genomic Location (Zv9):
Chromosome 6 (position 55334582)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 55440667
GRCz11 6 55451988
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGTGAGGCGCATGCACACCGCACTTAGACTCAATGAAGTCATTATTAAG[A/T]AATCCCAGGAGGCCAAACTAGTGCTGCTGAACATGCCGGGACCACCCCGA
Long Flanking Sequence:
AATTCTAAAAACTTTTTGAAAATGAAAATAATTCTAAAACCTTTTTTCAGAAATCACATTTTTACATTGAGTTTTGAAGAGTTCAGTCGCAACAAACTCTGAAAGCTTCTAAAAATAAAAAAATTCTAAAAACTTTTACAATGAGTTTTGAAGAGTTCAGTCACAAAAAAAATCTAAAAGCTTCTAAAAATTAAAATTATTAAAATATAAAAAAATATTAAAACCTTTTAAAAATTCTCAAATTCTAAAAACCTTTTTTAAAGTGTAGATGCAGTTTTGCGTTGCTTTCACACTCCTCTGTCTCTCTTTCTTTGTCCTGCTGCAGAGAATGGGAAAATCTGTGAGTATAGATGCTGTGAGAAACACATGAACACTCTCTGACGGATGCTGATGAATGTTTATGAGCTGATCATCAATGTTTTTTTTTTTTTGCTTTCAGAAACCAGTCGAACGTGAGGCGCATGCACACCGCACTTAGACTCAATGAAGTCATTATTAAG[A/T]AATCCCAGGAGGCCAAACTAGTGCTGCTGAACATGCCGGGACCACCCCGAAACAGAAGCGGAGACGAGAACTGTATCCTCATAAACCACCTCAGAATATCTGTGTCAAATTACAAGAATGATTGTTCACTATCATTATATGATTGAATCATTATTATTATTTTTTTTATTATTGTGGTTAATATTACTATTAATATTATTATTGTTATTATTTCTGTTATATTATTATTACTATTATATTATTCTTAATATTATTATAATAATAATTATTATTATTATTATTAATAATAATAATAATACTAATATGTTTTTATTATTGTTATTATTATTGTGGTTATTATTATTGTTGTTGTTGTTGTTGTTGTTATTACTATTATATTATTAATAATATTGTTGTTGTTATTATTATTATTATTATTATCATTACAATATCATCAGTGTTATTGTTATTATTATGGTTATTATTATTAATAATATTGTTATTATTACTGTTATATTATT
Associated Phenotype:
Not determined