Busch Lab

ZMP

LOC100331227

Ensembl ID:
ENSDARG00000089705
Human Orthologue:
ABCF3
Human Description:
ATP-binding cassette, sub-family F (GCN20), member 3 [Source:HGNC Symbol;Acc:72]
Mouse Orthologue:
Abcf3
Mouse Description:
ATP-binding cassette, sub-family F (GCN20), member 3 Gene [Source:MGI Symbol;Acc:MGI:1351656]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa32821 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa32821
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000130897 Essential Splice Site 159 240 5 7
Genomic Location (Zv9):
Chromosome 2 (position 1406754)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 1352384
GRCz11 2 1222792
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGAGGACAGAAGAGCCGCGTGGCTTTCGCTCAGATGACCATGCCCTGG[T/C]AATACACACATGTAAACAGCAGGGTTTATACACTTACCTGTATGGTACAA
Long Flanking Sequence:
AGCATCACGTGGATCAGCTGGACCTGAACGTCTGCTCCATAGAGCTGCTGCTCAAGAGATTTCCAGGTACTGTCTCCTCAGAGATCATCATCATTAGTACATGCACGAGCCCTGCTGAGAGACTTCTGATGCTGGAGTGTTTATTAATGAGGATATCAGAGGACATTACAGTCATTCAGACCATATACATGCAGAAGTCTTCAATACTCAAGTCAACACTTATTATAAGTGACAGTTCACCCCAAAGACAAACCAGGAGAAATTTGGGGTATCATTATTATTAATATAGTTTCATCCAGTACATCCTACTTGAATGTTTTTAGTGCATGTGCGTTTGTGTGTGTTTATGTACTTGTGTGTGTTCAGGTGAGACGGAGGAGGAGTATCGCCATCAGCTGGGCAGATACGGCATCACTGGAGAATTAGCCACGCGGCCGGTGGCCAGTTTATCAGGAGGACAGAAGAGCCGCGTGGCTTTCGCTCAGATGACCATGCCCTGG[T/C]AATACACACATGTAAACAGCAGGGTTTATACACTTACCTGTATGGTACAAATGTAATATAATTTTATTATTGTTTTATATTAGTGCTGTCAATCGATTAAAAAAATGTAACTAATTAATCGCACCTTTTTAAAAAAATTAATCGCCATTAATCACATTTAAAATACTGAAACTTGTAATTTTGGCTATTTAAATGTAAAATTAATGTAAACGCAAGACAAAAAAATTTAAAATTCAAAATATAATTGTTTATTAGAATTAAAATTAAAAATATAATTGTTTATTAGAATTAAAATTCAAAATATAATTGTTTATTAGAATTAAATTTCAAAATATAATTGTTTATTACAATTAAAATTCAAAATATAATTGTTTATTAGAAATAAAATTCAAAATATAATTGTTTATTAGAATTAAAATTCAAAATATAATTGTTTAATAGAATTTTTGTTTAACTTGTAACACAGATTTCTTCATGTAAACAACATACCACAATAAACC
Associated Phenotype:
Not determined