Busch Lab

ZMP

A2RUZ9_DANRE

Ensembl ID:
ENSDARG00000012403
Description:
LOC553504 protein [Source:UniProtKB/TrEMBL;Acc:A2RUZ9]
Human Orthologue:
C9orf102
Human Description:
chromosome 9 open reading frame 102 [Source:HGNC Symbol;Acc:26922]
Mouse Orthologue:
0610007P08Rik
Mouse Description:
RIKEN cDNA 0610007P08 gene Gene [Source:MGI Symbol;Acc:MGI:1923501]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa41233 Nonsense Mutation detected in F1 DNA Not yet available
sa9243 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa25397 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa41233
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061993 Nonsense 64 1105 4 20
ENSDART00000122774 Nonsense 66 1269 1 17
ENSDART00000125173 Nonsense 64 1100 3 19
Genomic Location (Zv9):
Chromosome 8 (position 30774771)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 29917497
GRCz11 8 29926729
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGTAAAAGTTCCGTACACCATCAATCGGTATTTACGGGACTACCAGCGA[G/T]AAGGCATTAAATTCATCTATCAAAACTATGCCAAATCCAGAGGATGCATC
Long Flanking Sequence:
ATTATTTACCCTTTTGACCTGCAGTGTCTTGGAGGTATTAAAATGACAGACTCAGTCACCATCAACTATCATTGTAATAAAAAGCATGCTAACAGTGGTGAGTAGATGGTGACAACATTAAACCATTTTTTAGATCTCAATATAAGAAGAACATGATTGTAAACATATTTTGCTGCCTTTGTTTTGCAGGTTGATTCACAACTCCATAATGACTTCATCTATAGTGCAACAAAGGAAAAGTCGGTTACATCTAAACATGCTATCATTACTTAGTTAGCACTTGGTTTGGTGTGAGTGCTGTCTATATGGAGATGAATGAAGAGAAAGACTCATCTACAAAGTGCCAGGATGCCAGAACACCCCTTCCTCATTTCGAGGATGAAAAACCCCTCTTTCACAGTAACCAGACGCCCCCAGGCCCCTCTGAAGCATTTCTGCTGGCAGGCAGTGATGTAAAAGTTCCGTACACCATCAATCGGTATTTACGGGACTACCAGCGA[G/T]AAGGCATTAAATTCATCTATCAAAACTATGCCAAATCCAGAGGATGCATCTTGGGTGATGATATGGGGCTTGGAAAGACTGTTCAGGTAAAAGCACACACATTTTTCTAAAGAGTATACATAGTAAAGACTGCTTTTTGTTTAACATACAGTATATGATTTTAGGTCATTGGCTTCTTGGCTGCAGTTCTGCAGAAAACGGGTACATGGAAAGATGTTGAGAACAACAGGCCTCAGTTTTTGCTGTCACAAAAACCATCAGAACGAGTTCAGAAGGTGACACATGCTTTTTAGTCAGAGAAAGTCATGGAAAAGTACGGGAATATGTTTGTATTTGGGAGCATGTTTCGTAGCTTGGGAACCCTGTAATTAGTCATGTGATGATATTCAGTTATATGTTAAATTGTGATGATGAACATGCAAACTATTCATGATGTTATTGTGTGCACTTCAGTATACTGTGAATTATTATTTTTTGCATAAACTATATACCTTTTTACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9243
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061993 Essential Splice Site 92 1105 None 20
ENSDART00000122774 Essential Splice Site 94 1269 None 17
ENSDART00000125173 Essential Splice Site 92 1100 None 19
Genomic Location (Zv9):
Chromosome 8 (position 30774683)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 29917409
GRCz11 8 29926641
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGAGGATGCATCTTGGGTGATGATATGGGGCTTGGAAAGACTGTTCAGG[T/G]WAAAGCACACACATTTTTSTAAAGAGTATACATAGTAAAGACTGCTTTTT
Long Flanking Sequence:
CTAACAGTGGTGAGTAGATGGTGACAACATTAAACCATTTTTTAGATCTCAATATAAGAAGAACATGATTGTAAACATATTTTGCTGCCTTTGTTTTGCAGGTTGATTCACAACTCCATAATGACTTCATCTATAGTGCAACAAAGGAAAAGTCGGTTACATCTAAACATGCTATCATTACTTAGTTAGCACTTGGTTTGGTGTGAGTGCTGTCTATATGGAGATGAATGAAGAGAAAGACTCATCTACAAAGTGCCAGGATGCCAGAACACCCCTTCCTCATTTCGAGGATGAAAAACCCCTCTTTCACAGTAACCAGACGCCCCCAGGCCCCTCTGAAGCATTTCTGCTGGCAGGCAGTGATGTAAAAGTTCCGTACACCATCAATCGGTATTTACGGGACTACCAGCGAGAAGGCATTAAATTCATCTATCAAAACTATGCCAAATCCAGAGGATGCATCTTGGGTGATGATATGGGGCTTGGAAAGACTGTTCAGG[T/G]AAAAGCACACACATTTTTCTAAAGAGTATACATAGTAAAGACTGCTTTTTGTTTAACATACAGTATATGATTTTAGGTCATTGGCTTCTTGGCTGCAGTTCTGCAGAAAACGGGTACATGGAAAGATGTTGAGAACAACAGGCCTCAGTTTTTGCTGTCACAAAAACCATCAGAACGAGTTCAGAAGGTGACACATGCTTTTTAGTCAGAGAAAGTCATGGAAAAGTACGGGAATATGTTTGTATTTGGGAGCATGTTTCGTAGCTTGGGAACCCTGTAATTAGTCATGTGATGATATTCAGTTATATGTTAAATTGTGATGATGAACATGCAAACTATTCATGATGTTATTGTGTGCACTTCAGTATACTGTGAATTATTATTTTTTGCATAAACTATATACCTTTTTACATTGTTTTATTTGCAGTGTTGTTCATCACAGCATCAAATGCTTCAAGACTAAATAGGGTATTTATTTTCAAACAAACATTTTGACATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25397
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
ENSDART00000061993 Nonsense 121 1105 5 20
ENSDART00000122774 Nonsense 123 1269 2 17
ENSDART00000125173 Nonsense 121 1100 4 19
Genomic Location (Zv9):
Chromosome 8 (position 30774522)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 29917248
GRCz11 8 29926480
KASP Assay ID:
554-7519.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGGGTACATGGAAAGATGTTGAGAACAACAGGCCTCAGTTTTTGCTGTCA[C/T]AAAAACCATCAGAACGAGTTCAGAAGGTGACACATGCTTTTTAGTCAGAG
Long Flanking Sequence:
TCTAAACATGCTATCATTACTTAGTTAGCACTTGGTTTGGTGTGAGTGCTGTCTATATGGAGATGAATGAAGAGAAAGACTCATCTACAAAGTGCCAGGATGCCAGAACACCCCTTCCTCATTTCGAGGATGAAAAACCCCTCTTTCACAGTAACCAGACGCCCCCAGGCCCCTCTGAAGCATTTCTGCTGGCAGGCAGTGATGTAAAAGTTCCGTACACCATCAATCGGTATTTACGGGACTACCAGCGAGAAGGCATTAAATTCATCTATCAAAACTATGCCAAATCCAGAGGATGCATCTTGGGTGATGATATGGGGCTTGGAAAGACTGTTCAGGTAAAAGCACACACATTTTTCTAAAGAGTATACATAGTAAAGACTGCTTTTTGTTTAACATACAGTATATGATTTTAGGTCATTGGCTTCTTGGCTGCAGTTCTGCAGAAAACGGGTACATGGAAAGATGTTGAGAACAACAGGCCTCAGTTTTTGCTGTCA[C/T]AAAAACCATCAGAACGAGTTCAGAAGGTGACACATGCTTTTTAGTCAGAGAAAGTCATGGAAAAGTACGGGAATATGTTTGTATTTGGGAGCATGTTTCGTAGCTTGGGAACCCTGTAATTAGTCATGTGATGATATTCAGTTATATGTTAAATTGTGATGATGAACATGCAAACTATTCATGATGTTATTGTGTGCACTTCAGTATACTGTGAATTATTATTTTTTGCATAAACTATATACCTTTTTACATTGTTTTATTTGCAGTGTTGTTCATCACAGCATCAAATGCTTCAAGACTAAATAGGGTATTTATTTTCAAACAAACATTTTGACATGTTAATCTGGCCTACGACATGCCATTCTTAAGCCCATTGCTAATTAGCACATCACAAAAAAAACTCAATTTCTTAGCATTAGTTAATTAAATTGATAATAAAAACGATTAAGCATTTATTAATCTAAGGTGGTTTATTTTTTAGATAATGTTTAATAACCTAA
Associated Phenotype:
Not determined