Busch Lab

ZMP

LOC569128

Ensembl ID:
ENSDARG00000030975
Human Orthologue:
CCDC80
Human Description:
coiled-coil domain containing 80 [Source:HGNC Symbol;Acc:30649]
Mouse Orthologue:
Ccdc80
Mouse Description:
coiled-coil domain containing 80 Gene [Source:MGI Symbol;Acc:MGI:1915146]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa33833 Nonsense Mutation detected in F1 DNA Not yet available
sa33834 Nonsense Mutation detected in F1 DNA Not yet available
sa38545 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa33833
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000040035 Nonsense 7 852 1 7
Genomic Location (Zv9):
Chromosome 6 (position 16325008)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 16280266
GRCz11 6 16407206
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATATATGTTCTAGTTATAGTAGTGTTGTTGCAATGAAAAATCTACAGGTA[C/T]AATTTTTTTTGATGACACTAACGTGGATTCAAGCATCAGACTTGGATTAC
Long Flanking Sequence:
AACTTTCCTCCAGATCTCAGTGCGTGGAGCTCAGAGAGCACTGAGAATTTTTAGAGACGCTGAGGGTCTTTGGAAGTCGTTGTTTGAAGGATTCTGCAAACTGACTAAGTGCTGTGGAGTTTCCCCTGTCTTCCTCGGGACGTTACTGAATATGTTAATGAGGGAATGCCTACGGAGTAATTTATTTCTGTCAATCACTTGACAAGCTCATTCGCTTTGGATTATGACACAGTTTTTTTTCTCCACGAAGACAAGTCGGAATTACTTTGAGTGATTTTCCTTACACACCTTTTCCTCTGTATTATGTTTCTTTTTAACTATTAGTAATGTAACAGGGTTTAACTGTTAGTTTGAAGCTAGTTTGTGTCTCGTTTCTGTTGGCTCAAATTACCCTCAGGCTCTTTTCAGACATAGGCTATTCGCCTATCCAATGTCAGAAGCAGTTAATATATATATGTTCTAGTTATAGTAGTGTTGTTGCAATGAAAAATCTACAGGTA[C/T]AATTTTTTTTGATGACACTAACGTGGATTCAAGCATCAGACTTGGATTACCCAAAAACAGATAGAGGAAATGCACAATTACAACCAAACACTTTTGTCAACAAATACACAAAGGATGTGCAAACTAATAGAAGACTTTCAGGGTTATCCACCTCTGGTAATACACATATTCTCAGGAAACCTCAGAACGATCAGGAGAACTCACGACCTCCAGCCAGGAGGGTCCTGAAAGGGCAAAGACCAGCCCTATTCAGGAAACCCAGTGTAAATGATAGCATTCCTGCTCAAGAAACAAGTTTAGGAGCCGCAAGCTCCATTAACATCCTGGCTGGTTTTGCAGGTAAAAACCGTGTGCTGATCATTTCTGCACCCAATGAATCTGATGGCTATTACAGGTTAATGATGAACTTGCTCAAGCCAGATGTGTACTGTGAGATGGCGGACAGACATATGCAGCAGATTATAATGTTTCATGAAAAGGGCAAGATGGGAGGCAAGGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33834
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000040035 Nonsense 677 852 4 7
Genomic Location (Zv9):
Chromosome 6 (position 16328981)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 16284239
GRCz11 6 16411179
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAACGCGCATTAAAGAGATAGAGCAGCAGAGGAAACTTGGAGCTATGTGC[A/T]AGAAAGAAGATAAATCAAGATCGCTAGAGGACTTCCTGTCTAGGTTAGGA
Long Flanking Sequence:
GAAGTTAATCAGGTTTCAGCCTACATTTTTTAATTAATGCACATTTTAAATTGATGTTTTAAGTCTGTTTAACTGTAAGTTTGAACTGAGGTTTAAAATTTATTTGATTCATTTAAAAAATTGAAAGCAGTAGTCATTTTTACAGTGTGGTTTGCTTAAATATAAAAATTTACTAATTAGTATTTACTTAAGTGGTCCCAAAATCCCAAAAGATATTTTGAATATTGTTGTAAAAACAAATACTATAGAAGTCAACGATGATTTGGTTTCCAACATTCTTCAAAATATCTAACTTCTTGTTTAACTTAAGAATGAAATCAAGCTTGTTTTGTTTTGGGTGAACTGTCCCTTTAAAATGACCACGCTAAATAAAACTATTCTTGTTTCCACAGCAACGGTATGAAGTGCCGATTGTTATGAAAGCAATGTTTGACTACATTGACACGCTGTCAACGCGCATTAAAGAGATAGAGCAGCAGAGGAAACTTGGAGCTATGTGC[A/T]AGAAAGAAGATAAATCAAGATCGCTAGAGGACTTCCTGTCTAGGTTAGGAATATTTACCAATTCCAGTGACTGAATTTATTTTGTATATTTTTAAAAATCATTAACATAAGCAATGTCTGCATTTTTTTAATGTCATTGTCTCTTATAAGATTTCGTTGGAGGCGGAGACTGTTTATAATATCCACCCCTAGTGATGAAGAGTGGGCCTATCAGCAACAACTCTACGCCATTAATAGCCAAGCCTGCAATTTGGGTGAGCTCATTTCAGTAAAACTTAGCAACTTCATTTAGGAACAACATCTGAAATGTGTCTGTGAAATGGTGCTGCTGGATTAATATAGACTGATTGTAGACAAATCACAAAGCTGTACTCTAGCTTAGGGATTCCACAATGATTTTGTCTGATGAGCCCAGGGTACAAAAATGTAGTAAAAGGAAAAGGTAACACTTTAGATTAAGTAACAATTAACAACATTCACTGGCTTATTACGTGCCTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38545
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000040035 Nonsense 769 852 7 7
Genomic Location (Zv9):
Chromosome 6 (position 16339991)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 16295249
GRCz11 6 16422189
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCAGGAAGTTCATCAGTGGACCGCGAGGCTCTGTCTGCCTCTCTGGTG[C/T]AGGACATCAGAAACTACTTCCAGATCAGCCTGGAGTATTTCTCCATGCTA
Long Flanking Sequence:
CAACTACTCGTAACAATGACAGTAAAAAAGACCACTGTAAATATGGCAGCAAAAACTACAGAACAAAATGACAATAAAAATGACAAGACGACAGTAAAGATAACCATTAAAAATGACCGAACAAGACCACAATAAAAGAGCAGAACAGAGAACATGCAAAGCAGTGATTCATGTTGGCCACAAATGGAGGCTTGTATCTGAGCAGCTGTAAGTTTTACACAAATGTTCCTGAATTGACAGGGCTGCGTCACATGTCTCTACTGAAACTGCTTGGAAAGACCTTGGATGACATGAGCGGAGTCTTGGAGCTTTATCCCATAAATGGTAAGAGTGACTAATTAGCAATGAACAAACCTCACAGGCTTTTATGATCTGTGCGCTGCTTTCATTGCCAACAACTCCGATGTCCTGCTGTTGTTTTATTGAGAAAACTAAAAGCTGTGGTTTGCATTGCAGGAAGTTCATCAGTGGACCGCGAGGCTCTGTCTGCCTCTCTGGTG[C/T]AGGACATCAGAAACTACTTCCAGATCAGCCTGGAGTATTTCTCCATGCTACTTGTTGGGAAAGACGGCAATGTCAAGTCCTGGTACCCGTCTCCAATGTGGTCCATGTCCATCATATATGAGCTGGTGGACTCCATGCAGCTGCGCAGACAGGAGATGGCCATTCAGCAGTCTCTCGGCATGCGCTGTCCAGACCATGACTACACTCATCATGATGGCTACCATGAGGCCTATCATCAGGGTTATGCTTATTGAGAACAGAGGGATGTGGCTATTAGCCTGCGCACTCTATACAGGGAAAACATGTGGATCATTTGGAAACCGAGAATCTTTCTTATTAAACTATAATAAAATGTATTTAGGTTAAAGGAACAATGCACGTTTTTAAATTGGCTTATTTTATAAGTCACTTAGTGATAAACAAATGAGTTTTACTATTTTTGAATCCATTTGGTCAAACTAGCACAAATCATTGAATCGTATTAGACCATTTGCATCAGC
Associated Phenotype:
Not determined