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
sa22624 Nonsense Available for shipment Available now
sa12674 Essential Splice Site Available for shipment Available now

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