Busch Lab

ZMP

si:dkeyp-87a12.1

Ensembl ID:
ENSDARG00000075917
ZFIN ID:
ZDB-GENE-081104-480
Description:
Novel protein with a Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain [Source:UniProtKB/TrEM
Human Orthologue:
C1orf222
Human Description:
chromosome 1 open reading frame 222 [Source:HGNC Symbol;Acc:27917]
Mouse Orthologues:
2010015L04Rik, AL670227.1
Mouse Descriptions:
RIKEN cDNA 2010015L04 gene (2010015L04Rik), transcript variant 1, mRNA [Source:RefSeq DNA;Acc:NM_177
RIKEN cDNA 2010015L04 gene Gene [Source:MGI Symbol;Acc:MGI:1917130]

Alleles

There are 9 alleles of this gene:

Allele Name Consequence Status Availability
sa31688 Essential Splice Site Available for shipment Available now
sa9940 Essential Splice Site Available for shipment Available now
sa13052 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa31688
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109135 Essential Splice Site 166 1555 6 38
ENSDART00000135353 Essential Splice Site 163 1568 7 39

The following transcripts of ENSDARG00000075917 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 55294783)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53332835
GRCz11 8 53211414
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGTAAGAAAAGCATTGTTTGCAGTGTGTTATTTTTTTTACCGTGTCTCC[A/G]GGCTGGAGCTGTGTCAGGTGGAGGTAGAACTGGGTCGCTTCTTGGATCTC
Long Flanking Sequence:
ATGAACTACTTTTCCCAGTGATGGGTTGCGGCTGGAAGAGCATCCACTGCATAAAAACTTGCTGGATAAGTTGGCGATTCATTCCGCTGTGGCGACCCTGGATTAATAAAGGGACTAAGCCGACAAGAAAATGAATGAATGAATAATGAATTACTATAGTGAGAATTGGTAGTTAAATCAACGTTCAATTTAATTCTTAAATCAAGAAGTTTTTTCTTGACAATTGTAAAATATTTTTTGGGAAATAATAAGTCAAAACTAAGTGGGTTTTCCTTTAAACAAGTACATCAATCTTGCTTTTGGTTTTAAATAAGAATATTTTACTTTAAACACTCACTTAATTTCGACTTATTATTTTTGAAGGCAGCACAATATTTAATACGTGTCTAGAAAATGCTTCTTGATTGAATGATTTTTAAATATTTGGACTAGAAACAAGACGAAAGCTGTAAGTAAGAAAAGCATTGTTTGCAGTGTGTTATTTTTTTTACCGTGTCTCC[A/G]GGCTGGAGCTGTGTCAGGTGGAGGTAGAACTGGGTCGCTTCTTGGATCTCCGTCAGGAACTAGAGCTAGAGGAGAAAACCATTCAGTCTCAGGACCAGAAGACACAAAAGCTCAGATTCCAGCGCGAGAAGAGGGTTATTAGAGGACGCAGACACAAAGCACACCAAGACGAAATGTAATAGTTTAATATGCTTTTATCATTATTATTAATATTATTATTATTTATTTATTTTCTTGAACTAAAGACCAGTAACCTTGCTATTTATCAGTCTAAATGATGCAACAATTACATTTAATGCTGATTTTTTTTCTCCTCTTGAACAGAAAAATATGAATTTTTGGAAAGATTTTGGGAAAGTAGTGTGTTGTTGTTTTAAAAAAATCTCCAGATGTTCAGATCTTTCAGATGAGATTGTTATTTGTGTGATCTGCTACGTGACAGTGAACGTGAGAAGCTTTTACAAGAGCAGATGGATCTTCAAAAGAAGCAACAGGAACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9940
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109135 Essential Splice Site 404 1555 None 38
ENSDART00000135353 Essential Splice Site 401 1568 None 39

The following transcripts of ENSDARG00000075917 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 55291844)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53335774
GRCz11 8 53214353
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAAACTCCTGCAGGACATACYRTCTTCATCTGAGCATACAAAAAGAGAGG[T/C]GCCAATCACACTGACCATAGATAYGTAGAWMTAACAGGCCATGTAGYACT
Long Flanking Sequence:
GAGAACAGAAGAGTGAACAGAGCTTTATTGCTGGATGAAAGTGTATGTGGGTTTACATCTATAATAGATCCTCTCTTCATTCACTTTAGGAGAGTATTAACGCTAGAAAGCAACGACAGAAAGCATCTGAACAGATACAGAGGGAGCAAGAGCAGCAGATGAAGGAGTGGCTGGAGGCCCGGGGAATGAACAGCACTGAACACCTCCACCGACTGAAACTGCAGGAGCGCCACAGCAAGAGGAACGAGTGAGGCTTTCACATATACACTACAGCTGAATGCAGAAAGCTGTGATGTACATGTTTCTGATATTGTATGTGTTTCATTGAAGGGAGTTTGAAGAGAAACGGAGAGCGAGGCAAATGGAGATTGTGGCTAAATTGCTCTTAGAAAGGAATGAGGAGAAGCATAAAAAAGCTCCTGCACCCATCCATGGGAAAAAACAGCCGGGGAAACTCCTGCAGGACATACTATCTTCATCTGAGCATACAAAAAGAGAGG[T/C]GCCAATCACACTGACCATAGATATGTAGATATAACAGGCCATGTAGTACTTTAAAGTGTCCTAATATTATGTCAGAGTGTCCTACGATAGCTTTAAATGCATCCAAGGTCAGAAAACATGGTAATTTTATCAGAATATGCATTTATTATTGGAGTCATTAGACAAGGATTTCAATGTAGTTTGCTTGAATCAATTCAGAGCCTAAGGTGTGTAAACCCCTCCCCTTTTATAAACCAGCTTTGCTCTAATTGGTCAGGTGGTCGAGTCTATTTTAATTGATCCATCCCTGTCAGTAACTCATTTCAGAGTGTTTCAAATGTCACAGGTACAGTTGAGGTCAGAATTATTAGCCCCCCTGAATTATTAGACCACTTGTTTATTTTTTTCCTCAATTTCTGTTTAACAGAGAGATTTTTTCAACACATTTCTAAACATAATAATTTAAAAAACTTATTTCTAATAATATATTTATTTTCTCTTTGACCATGATGACAGTAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13052
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109135 Nonsense 821 1555 21 38
ENSDART00000135353 Nonsense 834 1568 22 39

The following transcripts of ENSDARG00000075917 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 55279426)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53348192
GRCz11 8 53226771
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGTGTGTAAAGAGATGAGGAATCACATGTCTATCCAACCGAAAACGGGGT[T/A]AATCCAGGCCAAATCCAGCTTCACTGCTCAGYTGAAGTTTYTGCCCAGGT
Long Flanking Sequence:
TTTTCAGTATTTTAATAAAGATAAACACAATATGCAGCAGGAATATAGGCCACTGTCTCTTTAAGAGCTGCACGGATCTGATGTACTGCTACACATGCGTTTGTATGTGAATAAAGTACATTTGTTTATGAAAATATTCACTAAGCCTTAACATTATTTGTAGTACCTGGATGAGCCTGTGCTAATAGTTCAATCAGTTGTTATTGGAGAATACCATACATTGGAATGTTGTGATCGACCAATCAGAATCAGTTATTCAAGCCATTTAATGACTGTGGATAATACATTGCATTTGTGCTTGAAAATGAGCTGAGAACGAGTCCTCCTTCAGATAGGAATCTAGCAATTCTCTCTGTGTGTCTCCTGTGTTTTCCTGACTGTCGAGAGTGTGAACATCTGATGGTGTTTTTCTCTCTTTAGGGCCAGCACAGCTCTCAGGCTGACGTTCAAGGTGTGTAAAGAGATGAGGAATCACATGTCTATCCAACCGAAAACGGGGT[T/A]AATCCAGGCCAAATCCAGCTTCACTGCTCAGTTGAAGTTTCTGCCCAGGTACTGCTCAATAATTATACTTAATTAGATATACACTCACTGGCCACTTTATTAGGTACACCTTACTAGAACCCGGTTGGACCCTCTTTTTGCCTTCAGAACTGCCTTAATCCATCGTGGCGTGGATTCAACAAGGCACTGAAAATATTCCTCAGAGATTTTGCTCCATATGAATTTAAAGCGACAGTCATCAAAACACCATAATTAGGATTAAAGCCTAAAATTTTCAGAGAGCTATAAAGCATTATTAATGTGGTATTTTGAGCTGAAACTTCACTAGAGACGCCCCTTTAATTTGATTTCATCTACATAATTCATATAGTGTTTACTAGGATAAATAATATGCAATACAATGATGGATTTAGGAGGATTTATTCAGAGAAAGTTCCAAAAACAAAAGCAGTGTTCTCCCAAATGTACAGCAGCTTGTATCATAGAAAGATCTCATAACA
Associated Phenotype:
Not determined