Busch Lab

ZMP

mtx1a

Ensembl ID:
ENSDARG00000025500
ZFIN ID:
ZDB-GENE-060606-2
Description:
metaxin 1a [Source:RefSeq peptide;Acc:NP_001121710]
Human Orthologue:
MTX1
Human Description:
metaxin 1 [Source:HGNC Symbol;Acc:7504]
Mouse Orthologue:
Mtx1
Mouse Description:
metaxin 1 Gene [Source:MGI Symbol;Acc:MGI:103025]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa6445 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa6445
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
ENSDART00000113714 Essential Splice Site 195 319 6 8
Genomic Location (Zv9):
Chromosome 16 (position 45784500)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 43042690
GRCz11 16 42946448
KASP Assay ID:
554-5072.1 (used for ordering genotyping assays)
KASP Sequence:
AATCTTCTCTCTCAGCGCCTGGGATCAAACAAATTTTTCTTTGGAGATTC[G/A]TAAGTTCGATACTTGTNNTACRTACAGTATTGGGTAGGTTACTTTAAAAA
Long Flanking Sequence:
TATGTGGTGTGCAAAATGTATAATTTAGACAGAGTGGGTGGGCCATCTCTGACACTAACGCCCTCTGAGAGACCGGAGAGTCCAGCCAGAGGCAACAGTGTTCTGGTCCCTGAAGAGGACACAGATAAAGCAGCAGATGTGAGGAATCTGGGCTCAGACGGAGCAGAAGTTCCGTTCTGGCAAGAGTTTTGTTCTAGCAAGATGATAATCTGGGGTTAGGAAACAACTCTGTTTATGACACTGAGAGTCATAATATGGATTGCTTAAGATACATTTTTAAATGACTCTAATGCAAAACTGTGATATTGTGGGAATCAGAGCAGACATGAAAACTGTTGTCTATTGTTTTTTTGCATACCTGTGTAAATTGTAAAAGCTTCTCTCACAGTATTTGATTTCGTGAATGTTTTTGTTTCTCTTCAGCTTTACCATGATGCTCTGGAGTGCCTGAATCTTCTCTCTCAGCGCCTGGGATCAAACAAATTTTTCTTTGGAGATTC[G/A]TAAGTTCGATACTTGTGTTACATACAGTATTGGGTAGGTTACTTTAAAAAAGTAATTAATTGCTAACAATACATTTGTATTTGAATAATGTTTCTAATTACTTTGTTGGAAAAGTAACTTATTTACTCAAAAATTAATTACTTGACTAAATACTACAATTTCACACAAATCTCAGTGCATAGACAATAGACATTGAACTCTTCATTTTTTAAATTCAAGTCAAACAGGTCTTTTTAGTTTAGTATTTTTTTTTTCTTCTAAATATCACATCAATTATAAACAGAATATGGATCAAAACATAAAGGGCCCTATCATACACCCGGCGTAATGTGGCGCAAGGCGCAGCACAATAGTCTTTTGCTAGTTCCAGCTTGGTGCAAGAGTCGTTTTGATGCATTGCGGTAAGCTGTTTAAATAGCAAATGCATTTGCGCTCATATGTGTGCCCATAGGCGTTCTGGTCTAAAAAGGAAAGCGTTCTGAGGTGTATTGCTGGCGCGT
Associated Phenotype:
Not determined