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 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa2450 Essential Splice Site F2 line generated During 2018
sa5779 Essential Splice Site F2 line generated During 2018
sa31688 Essential Splice Site Available for shipment Available now
sa9940 Essential Splice Site Available for shipment Available now
sa30909 Nonsense Mutation detected in F1 DNA During 2018
sa41311 Nonsense Mutation detected in F1 DNA During 2018
sa13052 Nonsense Available for shipment Available now
sa34522 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa2450
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109135 Essential Splice Site 50 1555 2 38
ENSDART00000135353 Essential Splice Site 49 1568 3 39
ENSDART00000109135 Essential Splice Site 50 1555 None 38
ENSDART00000135353 Essential Splice Site 49 1568 None 39

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

Genomic Location (Zv9):
Chromosome 8 (position 55301583)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53326035
GRCz11 8 53204614
KASP Assay ID:
554-3152.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTTCAGRTTTGAGGATGGTTTCTCTGATGGTTTCGACAGCTCTGAGTGG[T/C]GAGAAATAAAAYAAATGTTCATTATNNNNNNNAATATCGACTTCATAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5779
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109135 Essential Splice Site 50 1555 2 38
ENSDART00000135353 Essential Splice Site 49 1568 3 39
ENSDART00000109135 Essential Splice Site 50 1555 None 38
ENSDART00000135353 Essential Splice Site 49 1568 None 39

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

Genomic Location (Zv9):
Chromosome 8 (position 55301583)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53326035
GRCz11 8 53204614
KASP Assay ID:
554-3152.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTTCAGRTTTGAGGATGGTTTCTCTGATGGTTTCGACAGCTCTGAGTGG[T/C]GAGARATAAAAYAAATGTTCATTATNNNNNNNAATATCGACTTCATAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31688
Current 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
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 from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGTAAGAAAAGCATTGTTTGCAGTGTGTTATTTTTTTTACCGTGTCTCC[A/G]GGCTGGAGCTGTGTCAGGTGGAGGTAGAACTGGGTCGCTTCTTGGATCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9940
Current 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
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 from LGC Genomics)
KASP Sequence:
GAAACTCCTGCAGGACATACYRTCTTCATCTGAGCATACAAAAAGAGAGG[T/C]GCCAATCACACTGACCATAGATAYGTAGAWMTAACAGGCCATGTAGYACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30909
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109135 Nonsense 659 1555 17 38
ENSDART00000135353 Nonsense 656 1568 18 39
ENSDART00000109135 Nonsense 659 1555 17 38
ENSDART00000135353 Nonsense 656 1568 18 39

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

Genomic Location (Zv9):
Chromosome 8 (position 55282966)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53344652
GRCz11 8 53223231
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTCAAGCTGATAAATTGTTCTCTTATATTTCTCTGTGCAGGTTTCCGGC[A/T]AAACAGATGTTGAGATGCCCAGCCTGAATGAAGAAAAAGCAGAAATCACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41311
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109135 Nonsense 659 1555 17 38
ENSDART00000135353 Nonsense 656 1568 18 39
ENSDART00000109135 Nonsense 659 1555 17 38
ENSDART00000135353 Nonsense 656 1568 18 39

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

Genomic Location (Zv9):
Chromosome 8 (position 55282966)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53344652
GRCz11 8 53223231
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTCAAGCTGATAAATTGTTCTCTTATATTTCTCTGTGCAGGTTTCCGGC[A/T]AAACAGATGTTGAGATGCCCAGCCTGAATGAAGAAAAAGCAGAAATCACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13052
Current 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
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 from LGC Genomics)
KASP Sequence:
GGTGTGTAAAGAGATGAGGAATCACATGTCTATCCAACCGAAAACGGGGT[T/A]AATCCAGGCCAAATCCAGCTTCACTGCTCAGYTGAAGTTTYTGCCCAGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34522
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109135 Essential Splice Site 1307 1555 32 38
ENSDART00000135353 Essential Splice Site 1320 1568 33 39

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

Genomic Location (Zv9):
Chromosome 8 (position 55257043)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53370575
GRCz11 8 53249154
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCGACTTCGACTGGGTTCCTGAAAACGAGAGCACATCACAAGTGTTCAGG[G/A]TACACATAACACCGATGAGAATCTGTATCGGAAGCACAGCAAAACACACG
Associated Phenotype:
Not determined

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