Busch Lab

ZMP

LOC100330448

Ensembl ID:
ENSDARG00000079969
Human Orthologue:
C10orf2
Human Description:
chromosome 10 open reading frame 2 [Source:HGNC Symbol;Acc:1160]
Mouse Orthologue:
Peo1
Mouse Description:
progressive external ophthalmoplegia 1 (human) Gene [Source:MGI Symbol;Acc:MGI:2137410]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa22147 Nonsense Available for shipment Available now
sa42074 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa22147
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109494 Nonsense 116 660 1 6
Genomic Location (Zv9):
Chromosome 12 (position 35308840)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33712585
GRCz11 12 33813568
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGAAAACTTCTCGCTCTTCATTGATAAAACCACCGGACAGTTTTTATGC[A/T]AGGACACTTTAGTAGAAGGAAACTGGGAGGACTTCCAGGACTGCCTTGAG
Long Flanking Sequence:
CATGTCAGCCGTCCCTAATTGTGCATATTTTGTGTAATGACTGCAGGTGTGATGTCCTGAGTGATCGTCAAATGTGGAGGAGCAGGTTTCTCAGATCTGCAGGCTGTCTCTTACAGGCAACGGTCTGTAGTCCTCATAAACTCTCTCATCTTCCTCAATGGAGATTTTTATCTTCTCACCAGCCCCTTCTCAATCCAGTCCTGCAGCGCTATTTAAGACCACCATCGTCTACATGGTATTGTCCTAAAAGCCATATAAACCCCACAGTTGCCTTATATTTCTGCAGAACATTAAGAAAAGATGCAAAGTCTGTCATCGATTTCGACCAGCCTCTCACGGTCACTGACATCAAACAATACCTTCGTTTTAAAGAAATCCCTTTCCACGATGGCCACAGCTGCTTACACGCTCCCAGTATTTTTACGGCACCCCTGCCTGAAGGATCGGGACGGGAAAACTTCTCGCTCTTCATTGATAAAACCACCGGACAGTTTTTATGC[A/T]AGGACACTTTAGTAGAAGGAAACTGGGAGGACTTCCAGGACTGCCTTGAGGTGATGCTGAACGAAGGCCAAACCTCCATCAGCCCCAATGTTCTCCTAGGGTTTCCGGAGAGCCTGGAGGAGCAGGAGGAAAGAGGGATGGAGGTGAAGGAGGTGCAAAGAATTTGGAGCAGCTCCGTGCCTTTTTCCGACCTCATGGAAGACGAGGTGCAGCTTATTAAAGCCATGTTTCAGATCGCCAAACTCACCAATGCTACTCTAAAGAAATTCGGAGTTCGGTTCTTCAAGCCTACCAAGAGTTTGGTGTTTCCTTGGTTTGGCGGACGGGATTCGGGACTTCGTGGTGTTAAATTGCTTTCGGCCTCGACGAGGGATGACGGACGTGTGGTTTATACTGAAGCCACAGTGCCAAAAGTCTCTAGTTACCACAACCTCTTTGGCCTGCCTTTGGTAGGACGCAAGGACGCCGAGGTTGTGTTGACAGGACGCCGAGGTTGTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42074
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109494 Nonsense 522 660 4 6
Genomic Location (Zv9):
Chromosome 12 (position 35305530)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 33709297
GRCz11 12 33810280
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTTTTTCCTTTACAGGACTGTTTTGGATACCATGCAGCATGCTGTTTA[C/A]GTTTATGACATCAGTCACGTGATCATTGACAACCTGCAGTTTATGATGGG
Long Flanking Sequence:
TCTCTGACTGATATGCATCAATAAAGCAGTTAAAGTTTAGATAAATAATTATTTAAATAATTATAATAATATTTGTGTTTATTTTTCATATGTGCAGGTCCCACAGGCAGTGGAAAGACCACCTTCATTAGTGAGTGTGCTCTGGATTTGTGCATGCAGGGGGTCAACACATTATGGGGCAGCTTTGAAATCAACAATGTGCGCCTGGCTAAAATTATGCTGACCCAGTTTTCCAAGCAAAGGCTGGAGGAGAACCTGGACCAATACGACATGTGGGCTGACAAGTTTGAGGACCTGCCTCTCTACTTCATGACCTTCCATGGACAGCAGAACATCAAGTAAATCCTTGACATTTGTCTAATAGACTTGATTAAGTTCTGTATTGTATTGCAAGCCCTATCGATTTGTGAGATGATGCTTCTTTTCTTAATCTTTTAATATGACTTGCACTCTTTTTTCCTTTACAGGACTGTTTTGGATACCATGCAGCATGCTGTTTA[C/A]GTTTATGACATCAGTCACGTGATCATTGACAACCTGCAGTTTATGATGGGTCAAGAAAATCTGTCTGTGGACAAGTAAGGCTACAGTTTTATTATGATATTCTATATAATGGTTTGATTGATAGCTTTGATTGATATTGGCGTATTTTAAATCGAGTTTTCTGTAGTCATACTCTGTCATTGGGTACTTTTTATCAGCATAAAAAGTTAGATTTCTCTAAAAAATTATTTCTTAAATTCATCTTTGGTTATTTGTGAAATTCATTGTTATTTATAGTAAATATAGTGAACCAAAAATGAACAAAGAAAAGGAAAATAAAAACATTTTGTTGAAGCAGCCTGGTTTTAGAAAAATACAGGTAGTTTTTTTGTTTTATGGGCTTCGACTCTGGAACACAAAAGTCTTTTATTTTGGTAGTAGCCAGAATACAATTTATGGATCAAAATAATTGATTTTATGGCAAAAATCATTAGAATGTTATGTAAAGATCATTTGATGAA
Associated Phenotype:
Not determined