Busch Lab

ZMP

LOC100334180

Ensembl ID:
ENSDARG00000009582
Human Orthologue:
ABCC6
Human Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 [Source:HGNC Symbol;Acc:57]
Mouse Orthologue:
Abcc6
Mouse Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 Gene [Source:MGI Symbol;Acc:MGI:1351634]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa38401 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa11801 Nonsense Available for shipment Available now
sa989 Essential Splice Site Available for shipment Available now
sa15585 Essential Splice Site Available for shipment Available now
sa33240 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa38401
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000042812 Essential Splice Site 73 1527 2 33
Genomic Location (Zv9):
Chromosome 3 (position 36417565)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36616825
GRCz11 3 36758683
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTATGACAATGGACGCATATCTATATCCAGCCTCTGCTGTGCCAAGACG[G/A]TGAGTCATTTCAGTCATATCAAGACTTGCATTCTAGTTATCATCCCCAAG
Long Flanking Sequence:
CATTCATCATGAACTCACTTGGCAAGCAAAGCTATATTTTAAAGCACTGAAAAACAGAGAAGATTTATTATTTGAGTATCACCTTTTACCTCTGTGCAACTTCACACTATTTAGCTGTTAAAACTTTAGAAGCATAACAAGCACAAATGACACAGAGGCTTTTGGACTGAACCATCACAGGGGAACATCACTGAACATCCATTTAACTATGAGTGCAATACAAGTTATAAAACATGCATTATGAGTTTGTTAAGATGTATATCCCTCTTGATGTAACATGTTAAGGAGTTTGAGAGGTCTAATGGTTTATTGTTTTGTTTCAGGATTGGAACGTCACGTGGTACACAGCACATCCAGACCTTACAAAGTGCTTCCAGCACACAATACTGGTGTGGTTCCCTTGTTTCTATCTCTGGATCTGTGCCCCTTTCTACTGCTTGTATCTCAAATTCTATGACAATGGACGCATATCTATATCCAGCCTCTGCTGTGCCAAGACG[G/A]TGAGTCATTTCAGTCATATCAAGACTTGCATTCTAGTTATCATCCCCAAGGCTTTCTAAACTGCTAACTTGAATATAGCATCAGTCGGATTAAAAACATATAGAACAGGATGACACCACTACAATCATTTAAAATAAATGTAATACATTCTGTGGGGGAAAAAAACTAATGAATGGATAATGCAGGGCTCAGTCCCATGTTTTTAGTGTCTAAATATTAATTTAAAAAAAAGAGTTTCCACTACAAATAACCTCTAATGCAGGGGTCACCAATCTCGGTCCTGGAGGGCCGGTGTCCCTGCAGGGTTTAGCTCCAACTTGCCTCAACACACCTGCCTGGATGTTTCAAATATACCTAATAACACCTTGATTAGCTTGTTCAGGTGTGTTTGATTAGGGTTGGAGCTACAATCTCCAGGACACCGGCCCTCCAGGAGCAAGTTTGGTGACTACTGCTCTAATGGATGTTAAGGTTTGTTCATCAACACCAGAATATTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11801
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
ENSDART00000042812 Nonsense 96 1527 3 33
Genomic Location (Zv9):
Chromosome 3 (position 36418649)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36615741
GRCz11 3 36757599
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGCCTCCTTTGGTTTTCTGGAGAYGGTCTACCTGCTGGYGGAMAGAAGG[A/T]GAGACATAGAGCATCACATGGTCTTTCTCCTGAGCCCTATAATCCGCWGC
Long Flanking Sequence:
TATTCAGCAGGACTGAATGTTAACGTTAAGACTAAAAGTTCACAGTAAAAATGACAAATGTTCACAATGTTACAAAAATATTATAGTTCAAATAAACTTGAATGACTAGAATGTCAGTCATGTTTTTTTTTATCTAAACAAAAAAGCAGCACAACTTTTTTTCAACTGAGAGCTTAAGCAAATGATAGACCGATTTGTCAAACATCCAAATAAGAAAATTGATGCTGAAAATACTAATATAGTGACAAAATAATAAATAATATTTTAAATATATAATATTGTAAAATTAAATTATCAAAAATAATCAAATGACAGATTAAATGAGCAAAATAGTCTTATTTGCCCCCCAACATTAGAACGGTCATGCAAGTAAAGCATTTTTTCAGAGAATGACAGAATAATGTTGCTCACATGTTTTTGTGCACATCTTATAGGGTTTGGCTCTCTGTCTGGCCTCCTTTGGTTTTCTGGAGACGGTCTACCTGCTGGTGGAAAGAAGG[A/T]GAGACATAGAGCATCACATGGTCTTTCTCCTGAGCCCTATAATCCGCAGCCTTACCATGGTAAATCACACTATTACTATTTTCCCAAGCCTCCATAATTGAAATATATTCAAAACTCTGCTACTAAAAATACCAAACTCTCATACCACCCCAATCTACACAACCTCCTCTGGCTTCCAGTACCGAAATTCTCTTACTTGCCTTCATATCATTGCGTGCTGTAGCTCTCTCAAACCTTTGTAATTTACTCACTCACTGCACTCCAACACTGTCATTGCAATCTTCGAGCTCTGTCCTTCTTGTTGTCCCTTGGCATCGCCTCGCTTTATGGGGGAAGAAAATTCTGTGCTGTTGCACAATAATATTTCTAAATATCACTAAGTTTCTCCTTAAAACTCACTCATTTTCTGAATGTTATAATCATTATGTTCTGTAGCTTTTGTGTCCATTTCTTTGTCTTATTTCTATTTTCTGAACATTTTTAAAGTTATTGTTTTTCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa989
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
ENSDART00000042812 Essential Splice Site 405 1527 10 33
Genomic Location (Zv9):
Chromosome 3 (position 36433700)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36676787
GRCz11 3 36818645
KASP Assay ID:
554-0893.1 (used for ordering genotyping assays)
KASP Sequence:
CAGTTGGCATGAGGGTTAAAACTGCAGTTATGGGACTGGTGTACCGGAAG[G/A]TAAATCTTNNAAGTGTTTACTARCAAATGCAAAGCAGCATTTAATGGTTC
Long Flanking Sequence:
CCAAACCAGGCCAGAGCCTTCACTATATTTCACAAAAAGCTGCAAGAACTAATTTTTTACCCTATTCCTCCAATAAGACCAAAAATTAACCTAAAACAGCATGTCCTAAATGGTCTTTAAAAAAAAATCCAACTCTAACCTGTATTTTCTAGTTGTATTTTAATAAAAAACATGTTAAATAATTATATATTGTTACGATACCATCACTAAAACAACAAATGTAATTGTGGTCTAAAACTTTTGCACAGTACTGTACATATATAATGGCATGCTAATCTTTGGGTCTCAGTAAATCATAATAATGTTTGTTCTTGTTCTTCAGTTTACTGCTTGGCTATGTGAGGGATGAAGATGCCCCCTTGTGGAAGGGTTACCTCTTCGCCTTTTCTCTGTTCCTGTTGTCTTGTCTGCAGTCCCTATTTAACCATCAGTACATGTATACCTGTTTCGCAGTTGGCATGAGGGTTAAAACTGCAGTTATGGGACTGGTGTACCGGAAG[G/A]TAAATCTTACAAGTGTTTACTAACAAATGCAAAGCAGCATTTAATGGTTCTCACATTTACTCTGGTTGTCCACAGTCTTTGGTCATCAACAGTGCAGCCCGCAAGACATGTACAGTCGGAGAGATAGTGAACCTGGTTTCAGCTGACACCCAGAAGCTCATGGATTTTGTAGTGTACTTCAATGCAGTGTGGCTGGCTCCCATTGAAATCGCCTTGTGTCTTTTCTTCCTCTGGCAGGTGAGAACAGCTGCTTCTATAGAAATACAAAACATGTTTTTGAATATTGTATTGTTCTTCTACAATATGTAGTATAGTTCTACCTTTCCAAAGTATATTTAATTTACTAAAAAGTGTACAAAAGCCATTCAAAGTATACTCCAATTAGTCAGTCCAATAGTCTCGTAGGAAGTGCTCCAACATGTACAGCTGTGCTTTGGACATCCCAAGTGCAAATCCTGGCTCACTGACCTTTCCCGATCCTATCCCTCATTCTCTCATCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15585
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000042812 Essential Splice Site 607 1527 14 33
Genomic Location (Zv9):
Chromosome 3 (position 36435720)
KASP Assay ID:
2259-3800.1 (used for ordering genotyping assays)
KASP Sequence:
TTAAAGCTCCACTCAGYCAACTGCCATTTGCAATGAGCACTACTATGCAG[G/A]TGAGCACCAGTACTACATGCTCTMTAYATGTTATAATAKTARAGTACTCA
Long Flanking Sequence:
TCTATTCTTGCAAATAATTGTGGCTGCATGACTCTGATTTCACATGCATTTACTGCTTTCAGGAGGTCCAGATGAGGTACATGGATGGACGCATTAAGCTGATGAATGAGATTTTGAGTGGCATAAAAATCCTGAAGTTTTACGCCTGGGAGAATGCCTTCAGAGAGCGAGTGCTTGAATACAGGGAAAAAGAGCTGAATGCTCTGAAGAAGTCCCAGATACTTTACTCCATTTCCATCGCCTCCTTCAATTCCTCCACTTTTTTGGTACATTTCATATGGACATCAGAAAATATTCATATAATCATATATAACATTTATATGACTGTTTGGCTTACTCTACTTTGCCTACAGATTGCGTTTGCCATGTTCGGGGTGTATGTGCTAATTGATGATAAGCATGTTCTGGATGCTCAGAAAATCTTTGTGTCCATGGCTCTTATTAACATACTTAAAGCTCCACTCAGCCAACTGCCATTTGCAATGAGCACTACTATGCAG[G/A]TGAGCACCAGTACTACATGCTCTATATATGTTATAATAGTAGAGTACTCACTTCAAGAATATTTAAAAGCCCTTTTTTTTTGCTTTCTATTTCTAAGGCTGTTGTTTCTCTCAAACGACTCGGGAAGTTTCTCTGTCAAGATGAGCTGAAACTTGATAGCGTGGAAAGAGTTCCATACAATCCTGGTAAGTGCATTAGCTTTTCAGACTTTGTTCTATGAGATAAAACACTTCATATGCCTCATTTAAAAAACATTTTTACAGTTGAACAATAAAGAGTTTTTTTTCCTAGTAGAAAGTAGAAGGCGTAACCAAAACCATCATCCAGATAAACAAAAACAACAAGTTACTGATTTGCCAGAAACACCCACCTTGAAAAATATATCTGCGAGACAAGCTCATGTGTAAGACTTTTGAAACATTAATTTAAACACTGTAATTTCACAAACACTTTAAGGAAATTTTGTGGCTATGAGGTGGGTTTTGGTAGAGGCTAAAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33240
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000042812 Nonsense 1268 1527 28 33
Genomic Location (Zv9):
Chromosome 3 (position 36444644)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36604460
GRCz11 3 36746318
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAACAACATTGTGTCTGTTGAGCGAGTGAAAGAATATGCTGAAACGGCA[A/T]AAGAGGTAGTGTTGGTCTGAATGCTCTGTTTTTGCCATAAATTCCTTTAT
Long Flanking Sequence:
GGTCAGATTCAGTTTGCTTATTCATTCTTTGTTGCATGTCCAGCTATTCGATCCAACATTTTACAATATTTGTAATGTTATTTCAATAGGTGGCTGGCAGTAAATCTAGAGTTTCTGGGTAACTTGCTGGTCCTTGCTGCAGCTATCCTCTCTGTTATGGGAAGGGCAACTTTAAGCCCTGGAATCGTGGGGCTAGCTGTGTCTCACTCTCTCCAGGTAGGGAACTCTGTCTTAAAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNAAGCTTTGGAAAAATGCATGTTGTCAGCATTTCATACAAGAAATTCTAAAGGCAATTCACACTGCAGGTCACCGGGATCCTAAGCTGGATTGTGCGGTCATGGACTGATGTAGAAAACAACATTGTGTCTGTTGAGCGAGTGAAAGAATATGCTGAAACGGCA[A/T]AAGAGGTAGTGTTGGTCTGAATGCTCTGTTTTTGCCATAAATTCCTTTATGATGAGTGACCAAAGTGTATTCATTCCTGCGGTTACCAAGTTTGTTTTGGGTTGTCACAGGCACCATGGACAATCGAGGACAGTCCACTCCCATCTGACTGGCCCAGATGCGGATCCATTGGATTCCAGGCATATGGACTTCAGTATCGCAAGGGTCTTGACTGGGCCTTGAAAGAAATTTCCCTCAGTGTCAATGAGAGAGAAAAAGTAAATATAACAATTGGAGGAATTTAATACATTTTTTCATATTTCATCATTTAATATATGCTAAGCCATTCATCAAATCCAATCAGGTAGGAATTGTGGGAAGAACAGGAGCTGGAAAATCATCTCTGGCTCTTGGAATCTTTCGTATCCTTGAGGCAGCAAAAGGAAAGATCTTTATAGATGGGATAAACATAGCAGAGATTGGACTGCATGAACTGAGGTCTCGTATCACTATCATCCCAC
Associated Phenotype:
Not determined