Busch Lab

ZMP

si:ch211-169p10.1

Ensembl ID:
ENSDARG00000012449
ZFIN ID:
ZDB-GENE-081104-59
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:B0S599]
Human Orthologue:
CCDC120
Human Description:
coiled-coil domain containing 120 [Source:HGNC Symbol;Acc:28910]
Mouse Orthologue:
Ccdc120
Mouse Description:
coiled-coil domain containing 120 Gene [Source:MGI Symbol;Acc:MGI:1859619]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa41120 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa21197 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa41120
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022469 Essential Splice Site 94 601 3 9
ENSDART00000137920 Essential Splice Site 94 601 5 11
Genomic Location (Zv9):
Chromosome 8 (position 8565545)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 7982127
GRCz11 8 8020712
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGGGCTGGTCTTTCCCGCAGCAGCTCCAAACATAACACGAAAAATGAG[G/A]TGTGCAGACTTGTTTGAAGAATAAGAGTGGACACTGATTTAATATTGCTA
Long Flanking Sequence:
TGTCACAGCTATCAGCCAATCAGATTCGAGAACCAGACAGAACTGTTATATAAATATATATATTTATAGATGTATTTATGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGAGAATAAATGTAAATATTTTTTTTTATTCTGGTGTTTTGCTTGAAATAGAAATCAATTCTCCAATAATCATTTTACATAAAAGAGCAAATTTATTACAAAAATATATGTAATATATGTACAAAAGTGACAAAAGTGAAGGGTACCAACAATTTTGTCCAGGCCTGTATTTTATGAACTTTTCACAGTCTATTTGTTAATTTGTGCATTTAATTGTAATTTTTCCCAGGAGTTGACAGGTGAAGTTCCTCATGAATATCCTCTGGAAAGCGGAGAGAAAGCTCCTCATGTGAGACGCAGGGCTGGTCTTTCCCGCAGCAGCTCCAAACATAACACGAAAAATGAG[G/A]TGTGCAGACTTGTTTGAAGAATAAGAGTGGACACTGATTTAATATTGCTATGTGATGGATAAATATCATGAATTGCTCGATGTTTGTGTTCAGGAAGAGGACGGCTCTCAGCGCAAGACAAAGAAAACCCTGTTCAGCGGCGCCCTCCGCAGGCACACCGATGCAGAACAGCATCCACAGCACAGCAAACGCACGGTTCATAGAGGATGCCACACAGGTAAGCTTGTAGATTACACACATCATAATAATACACAACATTTGTGCATGTTTCAACCATTATTTTCAAGTGTTACCAACAAATTATTTGTGATTTATTTGATCAAGTCTCTTACATATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTAGAGTAAAGCCTCAGAAAATAAATAAGTTATATATTAAAAAAGCAACACATGTTAAAATCTTTAATATTTCTACAAATGTAAATATATAGAGATAAAACAAGTATTTACATAATTTTAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21197
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022469 Nonsense 120 601 4 9
ENSDART00000137920 Nonsense 120 601 6 11
Genomic Location (Zv9):
Chromosome 8 (position 8565714)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 7982296
GRCz11 8 8020881
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAAGAAAACCCTGTTCAGCGGCGCCCTCCGCAGGCACACCGATGCAGAA[C/T]AGCATCCACAGCACAGCAAACGCACGGTTCATAGAGGATGCCACACAGGT
Long Flanking Sequence:
ATATTTTTTTTTATTCTGGTGTTTTGCTTGAAATAGAAATCAATTCTCCAATAATCATTTTACATAAAAGAGCAAATTTATTACAAAAATATATGTAATATATGTACAAAAGTGACAAAAGTGAAGGGTACCAACAATTTTGTCCAGGCCTGTATTTTATGAACTTTTCACAGTCTATTTGTTAATTTGTGCATTTAATTGTAATTTTTCCCAGGAGTTGACAGGTGAAGTTCCTCATGAATATCCTCTGGAAAGCGGAGAGAAAGCTCCTCATGTGAGACGCAGGGCTGGTCTTTCCCGCAGCAGCTCCAAACATAACACGAAAAATGAGGTGTGCAGACTTGTTTGAAGAATAAGAGTGGACACTGATTTAATATTGCTATGTGATGGATAAATATCATGAATTGCTCGATGTTTGTGTTCAGGAAGAGGACGGCTCTCAGCGCAAGACAAAGAAAACCCTGTTCAGCGGCGCCCTCCGCAGGCACACCGATGCAGAA[C/T]AGCATCCACAGCACAGCAAACGCACGGTTCATAGAGGATGCCACACAGGTAAGCTTGTAGATTACACACATCATAATAATACACAACATTTGTGCATGTTTCAACCATTATTTTCAAGTGTTACCAACAAATTATTTGTGATTTATTTGATCAAGTCTCTTACATATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTAGAGTAAAGCCTCAGAAAATAAATAAGTTATATATTAAAAAAGCAACACATGTTAAAATCTTTAATATTTCTACAAATGTAAATATATAGAGATAAAACAAGTATTTACATAATTTTAATTATATAAATAGAATAAATATAAATATAAATAAATATTTACATAATTATATAGACATATAAAAATATTTTACAAAAAAATTGAAATTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Associated Phenotype:
Not determined