Busch Lab

ZMP

ABCC8 (2 of 3)

Ensembl ID:
ENSDARG00000076973
Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Source:HGNC Symbol;Acc:59]
Human Orthologue:
ABCC8
Human Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Source:HGNC Symbol;Acc:59]
Mouse Orthologue:
Abcc8
Mouse Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 Gene [Source:MGI Symbol;Acc:MGI:1352629]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa11238 Nonsense Available for shipment Available now
sa43184 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa9167 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa2981 Nonsense F2 line generated Not yet available

Mutation Details

Allele Name:
sa11238
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000088191 Nonsense 156 889 5 26
Genomic Location (Zv9):
Chromosome 18 (position 48933727)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 50082340
GRCz11 18 50078905
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATCTAYTGGACTTTRGCTTTTGTCACCAAAACCATCMAGTTTGTGAAATA[C/A]GATGATCACGGCATCRGCCTCCKGCAGCTGCGGTTCTGCATTACGGGTCT
Long Flanking Sequence:
ATGATCCATTCAGAGTAAATCTCTAGTAAACAACTCACTGATTCAAATGATCTGTTCAGAGTGAGTCTTCTCTAAACAACTCACTGATTCAAATGATCCATTCAGAGTGAGTGTCTAGTAAACAACTCACTGATTTAAATGATTCATTCAGAGTGAGTCTCTAGTAAACAACTCACTGATTCAAATGATCCATTCAGAGTAAATCTCTAGTAAACAACTCACTGAATCAAATGATCCATTCAGAGCGAGTCTATAGTAAACAACTCACTGATTCAAATGATCCATTCAGAGTGAGTCTCCGTGAACTCACTGATTCAAATGATCCATCTAGAGTGAGTCTCCTGTAAACTCACTGATTCAGTTGGTCTGTTATTAGGGTCTCTGCATTTCCTCCAGTGTCTGCTTTGTGTGTTTGCTCCACCATTGCTATTTTCTCCTCCAGCACTGCTGATCTACTGGACTTTGGCTTTTGTCACCAAAACCATCAAGTTTGTGAAATA[C/A]GATGATCACGGCATCGGCCTCCGGCAGCTGCGGTTCTGCATTACGGGTCTGCTGGCGCTGCTGTACGGCCTGATGCTTGGTGTGGAGGTCAACGTCATCCTGCGCAGGGTCAGTGCAAAGTCACATAGAGGATTATAGACATCCATCTGTGCAGAATAATGCAATATAGACAGATTAATGCACACGGTGTTTAATGGAACTCGTCTATAGGTCGAGTGCTCTTGTTAAACTGCTGACCTCAGGAGTGCATTTTCATAATTAAATGGCAAAGTGCAGTGCACAGACATGTAGAAACGGCAACTGTAGTTTTAGAGTTTTAGATGTTCAAATGTGCAAATTACAGACACAAAAGAGAGTAAAAACGTGCTAAATAAATTGATAATTAATAGCAAATAATTAGTTAAACTTCTGATAAACTTTAAAAGTGTAATGAATGTGAAAGAATTTCTTTTTATTTTGAATTTATAATCTTTGATTATAAAATTGTACAGCTGTTGTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43184
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000088191 Essential Splice Site 193 889 6 26
Genomic Location (Zv9):
Chromosome 18 (position 48929610)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 50078345
GRCz11 18 50074910
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCATCCCCTGGTCTGAGTGTTGTCTAACGGTTGTGTTTTGGTTTTTCC[A/T]GCGCTACATGTGGTTTGCGTGTCCCACTGAGGTCAAGCCTCCCGATGACC
Long Flanking Sequence:
GCAAATGGTTTAAAGGGATAGTTCACCCAAACATGAAATTTACTCACTATTTACTGATTCTTAAATAGTAATTATGAGTTTCTTTCTTGTTGAATACACAAGAAGGTATTCAGAAAAAGCCATTGACTTCTATATTATTTGTTTTTCCTAATATGGAAGTCAAGAGCTGTTTAAAATTAAAAGTTTTACCTCTTCCCAACAGTGAAAACTAGTAACAATCAAGAATGCATGAGTATCTGCTGTCATTGCTTTACAATCAATAAATGTGATTATAATGGAAGTCAATGGGGCAAAAACAGCCCCAACATAACCAAAGGGGAGTCAGTCTGAGCAGTGTATTGTTGAGTTTTTCCAAAATAAGATTTGTCTGCAAGAATCATCACATTTGCTGAAACACAGGGAAAGTTGAGGCCGAATTGTAGTGTTGAGGAACTAGTGTTGAGGATGAAACTGCATCCCCTGGTCTGAGTGTTGTCTAACGGTTGTGTTTTGGTTTTTCC[A/T]GCGCTACATGTGGTTTGCGTGTCCCACTGAGGTCAAGCCTCCCGATGACCTGCAGGATCTCGGCGTTCGCTTTCTTCAGCCGTTCGTCAACCTGCTGTCCAAGAGCACATACTGGTGGATGAACACGTTTATCACCTCCGCACACCAGCGGCCCATCGACCTGAAGACCATCGGGAAACTGCCCAAATCCATGAGGGCTCTGAGCAACTTCCAGCAGCTCCGCAAGGCCTTCGACTCGCAGATGGTACATGCCACTATATCAGCATTTATATTATACGCACTAATCATCAGCTAGTCATTCAGGGCGGGGCAATCAGTGCTCGAAGGCGGGGCCAACAGTTCTTTAGGTCAGAGCTATCAGTCTTTTAGGGCGGGCCTATCAGGGCTTTAGGTGTATTTATCATTAAGGGCGGGGCTATCAGGGCTTTAGGTGTATTTATCATTAAGGGCGGGGCTATCAGTGCTTTAGGTTTATTAGTCGTTTAGGGCGGGGCTATCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9167
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
ENSDART00000088191 Essential Splice Site 678 889 18 26
Genomic Location (Zv9):
Chromosome 18 (position 48920466)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 50067939
GRCz11 18 50064504
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACCAGGAGCTGCGAGCCTCGGCCCAGCACGAGGACAACATCTGCATCAAG[G/A]TGACAGAGAAATGRTTCAACCTTNACAGTCTGTGTRAAACTAAATGTACA
Long Flanking Sequence:
TCCTTTATTAATATATATATATTTATACAGTTTTTTAAATTGATTAATATCCTGACGTTGTTTTAGAGTCTGATCTAGACTGTTCCATGGTTTTACACCACATACAGACATACATAAACTTTTTAAAGTTGTTCTTGATTTTTTAACCTCCTAAAATTTACTTCGTCTCTCAGATTATACCCTCCTAGTCGTTCTTCAAAATACTTTTGTACACATTGATTAGAAATGTGTTGAAGAAATCTTCTCTCGCTTACCTGTGTGAGGCGCACTCAGAAATGCAGTCTTTTCGGCATGCTTTTCCCTTAAATTGTGCGTGAGTGTTTGAGTGTTTTCTGCAGTGTTGACCGGTGTTCTTCGTCTGCTCTCAGTATGCGCTTCAGCTTCAGGCCAAACTGGTGAACCGTAAGAATAAAGCCAAACAAGACGTGAACAGAAACTTTGAGCAGCAGGACCAGGAGCTGCGAGCCTCGGCCCAGCACGAGGACAACATCTGCATCAAG[G/A]TGACAGAGAAATGGTTCAACCTTTACAGTCTGTGTGAAACTAAATGTACAAGGTTTCACGTGTTCACACTTAGCTCTTATATAATAAGATATAATATAATATATTATATTTTATATATATATATCTATTATATTATATCTAATATATTATATCTTATATAATAATATTTAATCATTCTGAAATTGGCAGCTTCTTCAAGTTCTTTATGATTATTGAGTAGCTATGGTTCCATCCACCTATTTTTAAGTGCATTTCAGGATATCACATAAATCAATACTTAATAGGGGGTGACATGGTGGCTCAGTGGTTAGCACAGTCCAAACACATGCACTATAGGGGAATTGATGAACTAAATTGGCCGTAGTGTATGAGTGTGTATGTGTGTTTCCAAGCATACTGGGTTGCGGCTGGAAGTGCATCTGCTGTGTAAAACACATGCTGGAATAATTGGCGGTTCATTCCGCTGTGAACCCTGATAAATAAAGGGACTAAGCTGAAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2981
Status:
F2 line generated
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
ENSDART00000088191 Nonsense 780 889 24 26
Genomic Location (Zv9):
Chromosome 18 (position 48916065)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 50062568
GRCz11 18 50059133
KASP Assay ID:
554-3268.1 (used for ordering genotyping assays)
KASP Sequence:
TAWTATTTTKTATTTATTTTAGTGTAAATGTCATGTTTAAAGCGTGTATC[C/T]AGTATTTTGTMTGTTGTGTGTTCAGGTATAAGGATGTGATYGAGGTTTGT
Long Flanking Sequence:
TGTTATTATTATTATTATTATTATTATTATTATTATTATTACTATTACTATTATTATTATTATTAATATTATTATTATTATTAATATTATAATTACTATTATTATTATTATTATTATTATCATTATTATTATTATTATTATTATCATTATTATTAATTTTATTATTATTATTATTACTACTACTACTATTATTATTATTATTATTGTTGTTATTATTATTATTAATATTATTATTATTATTAATATTATAATTACTATTATTATTATTATTATTATTATCATTATTATTAATTTTATTATTATTATTATTACTACTACTACTACTATTATTATTATTATTATTATTATAATCATTATTAGAAATTTTATTATTATTAATATTATTATTATTATTAATATTACTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTGTATTTATTTTAGTGTAAATGTCATGTTTAAAGCGTGTATC[C/T]AGTATTTTGTCTGTTGTGTGTTCAGGTATAAGGATGTGATCGAGGTTTGTCAGCTGGGGCCTGATATCGACACTCTTCCTCAGGGAGATCAGACAGTGATTGGAGAGCGGGTACGTCATTTGGTATGAATCTGAGCAAACACACATTCTGCTGTATACTGTGTGTGTGTGTGTGTTTGACAGTGTGTGAGATTCAGCAGTGTTTGTGTGTGTGTGTGCAGGGCATCATCCTCTCCGGTGGTCAGCGGCAGCGCATCAGCGTCGCCAGAGCTCTTTACCAGCAAACTAATGTGGTTTTCTTGGTGAGTTGTCATTTTACCCACACTCTGAACACATACACACTCTCTACACACAATACTTGAAGGATAAGTTTGACCATTCTATGATTAATAGCTCACCCTGATGTTGACAGTGTTTTGATTGACCGGATTGCCTGTCAATCAAACAGACGTGGATTCGCGTCCGCTGAAGTTCAGATTTTCCAAATTGAGCGGTTCGCGC
Associated Phenotype:
Not determined