Busch Lab

ZMP

LOC795669

Ensembl ID:
ENSDARG00000077243
Human Orthologue:
ABCC3
Human Description:
ATP-binding cassette, sub-family C (CFTR/MRP), member 3 [Source:HGNC Symbol;Acc:54]
Mouse Orthologues:
Abcc3, Gm11169
Mouse Descriptions:
ATP-binding cassette, sub-family C (CFTR/MRP), member 3 Gene [Source:MGI Symbol;Acc:MGI:1923658]
predicted gene 11169 Gene [Source:MGI Symbol;Acc:MGI:3779424]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa41927 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa21991 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa41927
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114196 Essential Splice Site 58 1532 2 35
Genomic Location (Zv9):
Chromosome 12 (position 923456)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 720580
GRCz11 12 726521
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAATATGATCTCATATGAATGAGAAGTGTGTGTGTGTGTGTGTGTGCA[G/T]GTTCTGGGCCTGATTCTGTGGATCGTCTGCTGGACGGATCTGTTTTCGGC
Long Flanking Sequence:
TTAATGATTTCATTATTATTTATCTATTTTTTCATATGATTAATTATTACAATATTATTTATTGTTTTATATCACTACTCCATTAATATTGTCATAAAACTTCATTAATTCATTATTATTTCATGATTTTAACATAATTTCATATTGTTTCATAATTATTTCATGGTAATTTATCGTTTGTTATTTTTATATTATTATTTTATTAATATTTTCATAAAAATAATCATTTCATTATTTTCTAAGTATCATTTTATGTTATTATTATTATTTTGATCTTGTTAATTATTTCACTATTTCTTATCTATCATTTGATGTCATATACTTTATTTAGTGATGTGTTATGTTGGACATGTGATCATTAGTTTTTGAAAAGTGTATTAATATTTCTTATATATTATATTTCTTAATTTTTTTTAAGCAAACATTTGCCTTTAAGTTTTCAGTAGAGTGAGAAATATGATCTCATATGAATGAGAAGTGTGTGTGTGTGTGTGTGTGCA[G/T]GTTCTGGGCCTGATTCTGTGGATCGTCTGCTGGACGGATCTGTTTTCGGCGTTTCACCAGATGAATCAGGGTTCTAAAATTTCTCCCATATATTTCGTCACTCCTTTAATAGTTGGCATGACAATGGTTAGTGCTTACAGTCATACATTATACAGCAGATATTAAATATGTACAGTACGATTTCAAAACAAGCTGCAATCATGAGTCTTTCTCATAACACTTATTTATTACATCAGAAATGTAGGTGAGTGTTTATTGGGTCGATTTAAGTGTGAGCTGTTTTATTAAATGGTGCATTGTGTGTTAGATTTCGCAAAGAGGCTTTTATTGGACAGTAAAAACTAAAATGGCCAAAATATTAATATGGTTTGTTATTGCTGTAATTTTTTTAGTTTTTTGTTGAATCCTATTTTCATGTAATATTTTGAGAATAAATGTTTTTTGTAATATATTTTATTGATTTGTTTTATTTATTTTATTTTAATTAATTGTGTTATTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21991
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
ENSDART00000114196 Essential Splice Site 1432 1532 32 35
Genomic Location (Zv9):
Chromosome 12 (position 979934)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 776952
GRCz11 12 782893
KASP Assay ID:
2260-4768.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGCTGCCAAACTGGAGCTGGAGTGCTCAGAAGGAGGAGAAAACCTCAG[G/A]TGACGCTTACGGTTTAAAACACAATAATCAACAGCTTTCCACAGATTGTT
Long Flanking Sequence:
GCCCTTTTAGCTGCAAACCAGTACTGGGAAACACCCATACACACTCATTTACACACTCCTAGGGTCTATCTATCTATCTATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATGACTGATAGCCCCGCCCTAAATTACTGACAACCCTCACCTAAATGAGTGATAGCCCCGCCCTAAAGGTCTGACAGCCCCGTCCTAAATGACTGATAGTCCCGCCCTGTTTGTCTCTCATGTGTGTGTGTGTGTGTTTCAGGAGCCAGTTCTGTTCTCCGGGACGCTGCGCATGAATCTGGACCCCTTTGAGAGGTACAGTGATGAAGAAGTGTGGAAAGCTCTGGAGCTCTCGCATCTGCAGAAGTTCGTCACCAATCAGGCTGCCAAACTGGAGCTGGAGTGCTCAGAAGGAGGAGAAAACCTCAG[G/A]TGACGCTTACGGTTTAAAACACAATAATCAACAGCTTTCCACAGATTGTTTAGATGTTTGGACTAGAAACAAGACTAAAACTTTTTCTTGCAGCGCGGAAACATTCACTCAAACAATGTGTTCAACACGCATGATTCATTTAGACTTTATAAATAAATCATTAAAATCAATCGTTGACTCAAACATCAATACACTATACGTCTTACAATACTGTATGAGATAAACTAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCAGTGTGGGTCAGAGGCAGCTGGTGTGTTTGGCTCGTGCTCTGCTCAGGAAGACTCGTATCCTGGTTCTGGATGAAGCGACGGCTGCAGTGGATCTGGAGACGGATGATCTGATCCAGAGCACCATCCGTACAGAGTTCCAGGACTGCACTGTGTTCACCATCGCACACAGACTCAACACCATCATGGACTACACCAGGTGCACACACACACACACACACACACACACACACAC
Associated Phenotype:
Not determined