Busch Lab

ZMP

timm50

Ensembl ID:
ENSDARG00000031098
ZFIN ID:
ZDB-GENE-040426-1618
Description:
Mitochondrial import inner membrane translocase subunit TIM50 [Source:UniProtKB/Swiss-Prot;Acc:Q6NWD
Human Orthologue:
TIMM50
Human Description:
translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:23656
Mouse Orthologue:
Timm50
Mouse Description:
translocase of inner mitochondrial membrane 50 homolog (yeast) Gene [Source:MGI Symbol;Acc:MGI:19137

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa42531 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa22624 Nonsense Available for shipment Available now
sa12674 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa42531
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048423 Essential Splice Site 234 387 7 11
Genomic Location (Zv9):
Chromosome 15 (position 19454439)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 20557065
GRCz11 15 20492797
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTGGCGCCACTTTATGAGATAGTCATCTTCACATCAGAGACAGGCATGG[T/A]GAGTCTCAGGGGTGATCGGGACTGTCTGTTTTCCGCAATAATGCCATTTC
Long Flanking Sequence:
CACTTTTTTTGGATGCAAACCCAGTTTGAATTTTCTTATGACAGACGAATATTTCAGAGGCAGTGTCAATATGATTGATATAACATGAGGTCAAATAAAGTATTTTACGTGTGAAAATTACAGACAAAAATTTCGGATTCAGTGTACAATAAGCTTCTCTACTCTAGACAGAGTCTTCAGTGTCATGTTTGAAATGGAGATTTTCTGTAATAATATATTTGTATTTAATATTTTTTATGACTTTTTGATTGGTTTCAGACGTCCTTGCCAAATAAAAGATTACTTTGTTTAAAAAAACTTAGTATATAAACCATCTAGATAAAAAATTGTGCAAATAACAATTTTGCCCAAATAAATGTTGTTCTTTTTCCTGGATCTTTTCTGTTTCTTCTAGTTGGCCACAGGTTGGCGTTTTAAGAAGAGGCCTGGCATCGACTACTTGTTTCAGCAATTGGCGCCACTTTATGAGATAGTCATCTTCACATCAGAGACAGGCATGG[T/A]GAGTCTCAGGGGTGATCGGGACTGTCTGTTTTCCGCAATAATGCCATTTCAATTGGCTTATTTGTTTTCGCATACATTGTTTCAAATGCAGTTGAAAGGAAACGTTTCTTGAACCCTGCTTAGCATATCGGGATACAATAGATGCTATTTTGGGAACAGCAGCACACCTTGATATTTGTTGATTCTACAAACGCTCCGTCTTGTGCAGATGTATAACATTTCGTTAATAGGGCCATTAGACAGATCCTTATGCAAAGCTGCAGTCTGTTGGTGTTTGTGTGTGTCTGTTGTTGATCTGTTGGTGTGGCACACTTCTACAGTCATGCAAATTAGCCTTGTTTTGATTGAACAGCCTTTTGCTGTTGCTTTTTTGTTTCATTCTAATGTATGCAAAAGTCAGTTCAGCTGTTTGCCATTGTGGAAAAAAAGGCCCATGCGCCACCCTGATGCTTTACAAATGTTACAGACCATTTTGAGGATTTCTGATGGGAGAAAAACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22624
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048423 Nonsense 333 387 10 11
Genomic Location (Zv9):
Chromosome 15 (position 19440487)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 20543113
GRCz11 15 20478845
KASP Assay ID:
2260-8358.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGTGTTCAGCTATTGCCATCAGCGGGGTGGAGGATGTGCGTTCAGTAT[T/A]AGAGAACTACGCCCATGAGGAAGACCCTATTGAAGCTTTCAAAAGAAGAC
Long Flanking Sequence:
AATGTTTTAACATTTTTATAATAAGATTTTATTAATTTCTTTTTATTATCTTATTTGTATAAAACTTCCAATTTATTTTCTTTCTTTAAATGTAGTTTTATGTAAATATCCACTTTTTGCTGTCATTTTTGTTGTTTATTTAGTGAGATTTATATTTGGGCAATTAACTAACTTTAGTAAAACTGCTAAATATTATTCAGCAATAACTGTGATTGTCTGTCCTGCAGGACGTGTCTTGTTTGAACAGAGACACCTCTAAAGTCATCGTGGTGGACTGTAAGCGGGAGGCTTTCGGTCTGCAGCCCTTCAACGGTTTGGCGCTGTGCAAGTGGGATGGAAACTCAGAGGATCGCACTCTGTATGACCTGGCTGCTTTCCTTAAAAGTGAGTTAGTGCACTATTAGAAATAATTACATCTTGTTTCGGAACTTTCATTTGTTGACTTGTTATTTGGTGTTCAGCTATTGCCATCAGCGGGGTGGAGGATGTGCGTTCAGTAT[T/A]AGAGAACTACGCCCATGAGGAAGACCCTATTGAAGCTTTCAAAAGAAGACAGGCACAGCTTGCACAGGTATGCACTTCAGTTTCATGATTGAGTCACAGGATTTACATTAAATGCAAGACGCTGCTGGTTTTTATTTTCCCTATGCTCCTGTACTTTGGGGATTTGGACTTTTTTCTTTTACAAATTCTTTTTACAATTTTAATGTAAAGGAAGCATCAAAATATGCTTAAACTCAAGTGTTTAATTTATAACACTTCATCAGTTTGTCTGAAGATTTCAATTACAATACATATTTGTTAGAGCTGTGAACCTACACTAGTCTCACAGTTTGGTTATGATTACCATGCCATCAATTCGGTTCAATTCGATATCTTGGTGCATTATGGTGAATAGATAATGCTTTCCATACACAGTTTTAGATTTTCTTTACAGGAGCAATTCTTGTATTAAAATGTATAAATATATTTATATACTATTTGTAATAAAATGTTGTCCTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12674
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048423 Essential Splice Site 355 387 10 11
Genomic Location (Zv9):
Chromosome 15 (position 19440419)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 20543045
GRCz11 15 20478777
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGAAGAYCCTATTGAAGCTTTCAAAAGAAGACAGGCACAGCTTGCACAG[G/T]TATGCACTTCAGTTTCATGATTGAGTCRCAGGATTTACATTAAATGCAAG
Long Flanking Sequence:
CAATTTATTTTCTTTCTTTAAATGTAGTTTTATGTAAATATCCACTTTTTGCTGTCATTTTTGTTGTTTATTTAGTGAGATTTATATTTGGGCAATTAACTAACTTTAGTAAAACTGCTAAATATTATTCAGCAATAACTGTGATTGTCTGTCCTGCAGGACGTGTCTTGTTTGAACAGAGACACCTCTAAAGTCATCGTGGTGGACTGTAAGCGGGAGGCTTTCGGTCTGCAGCCCTTCAACGGTTTGGCGCTGTGCAAGTGGGATGGAAACTCAGAGGATCGCACTCTGTATGACCTGGCTGCTTTCCTTAAAAGTGAGTTAGTGCACTATTAGAAATAATTACATCTTGTTTCGGAACTTTCATTTGTTGACTTGTTATTTGGTGTTCAGCTATTGCCATCAGCGGGGTGGAGGATGTGCGTTCAGTATTAGAGAACTACGCCCATGAGGAAGACCCTATTGAAGCTTTCAAAAGAAGACAGGCACAGCTTGCACAG[G/T]TATGCACTTCAGTTTCATGATTGAGTCACAGGATTTACATTAAATGCAAGACGCTGCTGGTTTTTATTTTCCCTATGCTCCTGTACTTTGGGGATTTGGACTTTTTTCTTTTACAAATTCTTTTTACAATTTTAATGTAAAGGAAGCATCAAAATATGCTTAAACTCAAGTGTTTAATTTATAACACTTCATCAGTTTGTCTGAAGATTTCAATTACAATACATATTTGTTAGAGCTGTGAACCTACACTAGTCTCACAGTTTGGTTATGATTACCATGCCATCAATTCGGTTCAATTCGATATCTTGGTGCATTATGGTGAATAGATAATGCTTTCCATACACAGTTTTAGATTTTCTTTACAGGAGCAATTCTTGTATTAAAATGTATAAATATATTTATATACTATTTGTAATAAAATGTTGTCCTTTAACACAGTCAGATATATTAACTGTACCTATAAACAACAAAAGCATTTATAGCAAATAATATAAACAAAT
Associated Phenotype:
Not determined