ZMP
si:ch211-233f10.4
Ensembl ID:
ZFIN ID:
Description:
Uncharacterized protein C9orf117 homolog [Source:UniProtKB/Swiss-Prot;Acc:A2BDR7]
Human Orthologue:
C9orf117
Human Description:
chromosome 9 open reading frame 117 [Source:HGNC Symbol;Acc:27843]
Mouse Orthologue:
1700019L03Rik
Mouse Description:
RIKEN cDNA 1700019L03 gene Gene [Source:MGI Symbol;Acc:MGI:2447809]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa40587 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa13152 | Essential Splice Site | Available for shipment | Available now |
| sa26609 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa40587
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000130638 | Essential Splice Site | 284 | 471 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 5 (position 67676279)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 64477920 |
| GRCz11 | 5 | 65166917 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTTAATATATCTATATCCTAGAGCAAAATAAAGTCAAAGTCTTTCTCC[A/T]GGTGGTCCTTCAGTTGACAGAAAAGTGCAAGCAAATGCAGTCTGAAGTGG
Long Flanking Sequence:
TATTTTCCTCATTTAAAATATAAAAAAGCTGGGCCAGTTGGCGTTTCTGTGTGGAGTTTGCATGTTCTCCCTGCGTTCGTGTGGGTTTCCTCCGGGTACTCCGGTTTCCCCCACAGTCCAAAGACATGCGGTACAGGTGAATTGGGAAAGCAAAATTGTCCATAGTTTATGAATGTGTATGAATGAGTGTGTACGGGTTTCCCAGTGATGGGTTGCTGCTGGAAGGGCATCTGCTGCTTAAAACATATGCTGGATAAGTTGGCGGTTCATTCCACTGTGGTGACCCCAGATTTATCAAGTGACTAAGCCGAAAAGAAAATGAATGAATGAATGAATAAAGTTAACATATACTTTCTCTGTGAGTTTATGTTTAGAATTTTTACTTCAAATGTCACATTCATAACGGTGGAATTGGTCTTATTTTAATTTCACAGAAACTTTAAGCTGCTTTTCTTAATATATCTATATCCTAGAGCAAAATAAAGTCAAAGTCTTTCTCC[A/T]GGTGGTCCTTCAGTTGACAGAAAAGTGCAAGCAAATGCAGTCTGAAGTGGAGAAATGCACCAAACTGAAACAGGATCACCAGGAGCTGCTGGACATTCACTCTGCGGTTTGCACTGAGATTGAGGATCTCAGGTTGACCTTCTTCTTATTGATGCTAAAACAGTCCTTAAATACACCCAAGGGTGCATTTTAATAGCGTTACTCCCGCTGTATTACAGAAAGAAACATGCAGCGGTTACAGAAGACCTGAACCAAACCAAAGCTGAAGTCGAGAGACAAAAGAAAGAGCTTGAGGAGGAAAGCAGAATGAGAGCGCAGATAAACACGGTTCTGGAAGAAGCAGCTGTAGCTTTGAAGGAGGCCTTGAGGGTGAGACTCAACATATACATACTGATATTTTAATCATAGGCGAGGAAGTAAACACTGGTTTGGGTACAGGACGTCCCAGAGGAGGAAGACTCTGAGCTGAAGGTCACCGTCAGACGAAGTCAGATGATGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13152
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000130638 | Essential Splice Site | 327 | 471 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 5 (position 67676497)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 64478138 |
| GRCz11 | 5 | 65167135 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAAATACACCCAAGGGTGCATTTTAATAGCGTTACTCCCGCTGTATTACA[G/T]AAAGAAACATGCAGCGGTTACWGAAGACCTGAACCAAACCAAAGCTGAAG
Long Flanking Sequence:
CTGGAAGGGCATCTGCTGCTTAAAACATATGCTGGATAAGTTGGCGGTTCATTCCACTGTGGTGACCCCAGATTTATCAAGTGACTAAGCCGAAAAGAAAATGAATGAATGAATGAATAAAGTTAACATATACTTTCTCTGTGAGTTTATGTTTAGAATTTTTACTTCAAATGTCACATTCATAACGGTGGAATTGGTCTTATTTTAATTTCACAGAAACTTTAAGCTGCTTTTCTTAATATATCTATATCCTAGAGCAAAATAAAGTCAAAGTCTTTCTCCAGGTGGTCCTTCAGTTGACAGAAAAGTGCAAGCAAATGCAGTCTGAAGTGGAGAAATGCACCAAACTGAAACAGGATCACCAGGAGCTGCTGGACATTCACTCTGCGGTTTGCACTGAGATTGAGGATCTCAGGTTGACCTTCTTCTTATTGATGCTAAAACAGTCCTTAAATACACCCAAGGGTGCATTTTAATAGCGTTACTCCCGCTGTATTACA[G/T]AAAGAAACATGCAGCGGTTACAGAAGACCTGAACCAAACCAAAGCTGAAGTCGAGAGACAAAAGAAAGAGCTTGAGGAGGAAAGCAGAATGAGAGCGCAGATAAACACGGTTCTGGAAGAAGCAGCTGTAGCTTTGAAGGAGGCCTTGAGGGTGAGACTCAACATATACATACTGATATTTTAATCATAGGCGAGGAAGTAAACACTGGTTTGGGTACAGGACGTCCCAGAGGAGGAAGACTCTGAGCTGAAGGTCACCGTCAGACGAAGTCAGATGATGCAGAAGCTGCTGGCTGTTCTGGACGGCGCTGCAGCTTTGGGAAAAGGACCTGCTCTTACTGATTTAATGACTTGCAGGTATGAGATTGAAAAAAAGACATGAAAAGTATCTAATCGTTCAATTAAGTATCAATCTAATCGTATCTAATCTAATTGTTGACCTTATTCTGAATAAGACAATATTATGATTAGGATTTATTAAAATATTCCTTTCAAGTCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26609
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
|---|---|---|---|---|---|
| ENSDART00000130638 | Nonsense | 393 | 471 | 7 | 8 |
Genomic Location (Zv9):
Chromosome 5 (position 67676763)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 64478404 |
| GRCz11 | 5 | 65167401 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACAGGACGTCCCAGAGGAGGAAGACTCTGAGCTGAAGGTCACCGTCAGA[C/T]GAAGTCAGATGATGCAGAAGCTGCTGGCTGTTCTGGACGGCGCTGCAGCT
Long Flanking Sequence:
GTCAAAGTCTTTCTCCAGGTGGTCCTTCAGTTGACAGAAAAGTGCAAGCAAATGCAGTCTGAAGTGGAGAAATGCACCAAACTGAAACAGGATCACCAGGAGCTGCTGGACATTCACTCTGCGGTTTGCACTGAGATTGAGGATCTCAGGTTGACCTTCTTCTTATTGATGCTAAAACAGTCCTTAAATACACCCAAGGGTGCATTTTAATAGCGTTACTCCCGCTGTATTACAGAAAGAAACATGCAGCGGTTACAGAAGACCTGAACCAAACCAAAGCTGAAGTCGAGAGACAAAAGAAAGAGCTTGAGGAGGAAAGCAGAATGAGAGCGCAGATAAACACGGTTCTGGAAGAAGCAGCTGTAGCTTTGAAGGAGGCCTTGAGGGTGAGACTCAACATATACATACTGATATTTTAATCATAGGCGAGGAAGTAAACACTGGTTTGGGTACAGGACGTCCCAGAGGAGGAAGACTCTGAGCTGAAGGTCACCGTCAGA[C/T]GAAGTCAGATGATGCAGAAGCTGCTGGCTGTTCTGGACGGCGCTGCAGCTTTGGGAAAAGGACCTGCTCTTACTGATTTAATGACTTGCAGGTATGAGATTGAAAAAAAGACATGAAAAGTATCTAATCGTTCAATTAAGTATCAATCTAATCGTATCTAATCTAATTGTTGACCTTATTCTGAATAAGACAATATTATGATTAGGATTTATTAAAATATTCCTTTCAAGTCTTTTAATATTTACATGTTATAGTACATAAATATATTTTATTAAAGATCCCCTATTATACATTAAACAGGTTATATTTTGACATTGAGGGTCTCCAACAACAGGCTGATATGCATGCAAGTTCAAAAAACACTTTTATTGTCTTATAATATGCATTTATTGTTACCTAATTGCCCAACGACTTCCGTATGATTCGTTCAGCGATTCATTTGTTTCCAAACCCCTCCTTAGCGCGAAGCTAATCTGCGCTGATTGGACTGATGACAGCCT
Associated Phenotype:
Not determined