ZMP
KIAA0317
Ensembl ID:
Description:
KIAA0317 [Source:HGNC Symbol;Acc:20363]
Human Orthologue:
KIAA0317
Human Description:
KIAA0317 [Source:HGNC Symbol;Acc:20363]
Mouse Orthologue:
1110018G07Rik
Mouse Description:
RIKEN cDNA 1110018G07 gene Gene [Source:MGI Symbol;Acc:MGI:1915747]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa4727 | Splice Site, Nonsense | F2 line generated | Not yet available |
sa23188 | Nonsense | Available for shipment | Available now |
sa36529 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa4727
Status:
F2 line generated
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000125532 | Splice Site, Nonsense | 558 | 1020 | 10 | 21 |
Genomic Location (Zv9):
Chromosome 17 (position 50035338)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 49409025 |
GRCz11 | 17 | 49509380 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGGCTTCTTGTCGTTACTCTTAATAACAACTCATTGTATTGTGTTCCAG[C/T]AATTTTCTGTGAAGGAGTTTTACCTGAAAATTATTCCTTGGCGCCTGTTC
Long Flanking Sequence:
TATCTTTAAAAAGCGGGAATCTCACGCGATGTGACAGTACAAAACAGTACTGCTGCTTCAGGATATTTCAGACATATGGACACATTTTGGATAAATAGAGCAAAGCCACACCACATGCAACTTGATCTTCCATTGTTGTATGAATTTGATAAGAAGTGCGCAACATTTTCACGCTAAAAACATGTCTTATGCAGGAATGTAACTGATATGCTGCAACGGCTCCTTTAAGTACGAGATCAATGTAGCGAGTTTTGACGCTCTCGCCGCCGGAGCTGAAGGCAGACATCGTTGTCGCCAGGGCGGCCAGAGCGACCTTGGATGCTCTCGCCACTTTCGGTGTGAACGTACGGTAAGACCTTGATTAGCGTGTTCAGGTGTGTTTGATTAGGGTTGGAGCTAAAATCTGCAGGGCTCCGGCCCTCCAGGAACAAGTTTGGTGACCCCTGCTTTAAGGCTTCTTGTCGTTACTCTTAATAACAACTCATTGTATTGTGTTCCAG[C/T]AATTTTCTGTGAAGGAGTTTTACCTGAAAATTATTCCTTGGCGCCTGTTCACTTTTCGTGTGTGTCCCGGAACCAAGGTTTGTTTTCTTCAAACTTGATATTTGAGAAGCTGATATTTCCCCCAATTGCTCATGCATGAATTTGAATTGTATTCTTTTATTATTAGTTTACGTACCATGGACCAGACCCTGTTCATAAATACTTAACCCTGGTGGTAGATGATGGGATCCAGCCTCCAGTAGAGCTCAGCTGTAAAGACCGCAACATAATGGCTGCCACCTTTATCCGCTTTCTCCACAAGAACATTGGTTAGTGTTATTATCAGTGATAACTGCCAATTGGTTTGTTCGGTGCCTTTCTACATCGTGTGTCCATCTTATAGGAGGATCAGAGACTTTTCAGGATAAAGTGAACTTTTTTCAAAGGGAGCTAAGGCACATCCACTCCAAGAGACCTCGCACTAAAACTAGCCTGAAAATCAGTCGGCACTCTCTGCTGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23188
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000125532 | Nonsense | 644 | 1020 | 12 | 21 |
Genomic Location (Zv9):
Chromosome 17 (position 50035759)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 49409446 |
GRCz11 | 17 | 49509801 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCATCTTATAGGAGGATCAGAGACTTTTCAGGATAAAGTGAACTTTTTT[C/T]AAAGGGAGCTAAGGCACATCCACTCCAAGAGACCTCGCACTAAAACTAGC
Long Flanking Sequence:
CCAGGAACAAGTTTGGTGACCCCTGCTTTAAGGCTTCTTGTCGTTACTCTTAATAACAACTCATTGTATTGTGTTCCAGCAATTTTCTGTGAAGGAGTTTTACCTGAAAATTATTCCTTGGCGCCTGTTCACTTTTCGTGTGTGTCCCGGAACCAAGGTTTGTTTTCTTCAAACTTGATATTTGAGAAGCTGATATTTCCCCCAATTGCTCATGCATGAATTTGAATTGTATTCTTTTATTATTAGTTTACGTACCATGGACCAGACCCTGTTCATAAATACTTAACCCTGGTGGTAGATGATGGGATCCAGCCTCCAGTAGAGCTCAGCTGTAAAGACCGCAACATAATGGCTGCCACCTTTATCCGCTTTCTCCACAAGAACATTGGTTAGTGTTATTATCAGTGATAACTGCCAATTGGTTTGTTCGGTGCCTTTCTACATCGTGTGTCCATCTTATAGGAGGATCAGAGACTTTTCAGGATAAAGTGAACTTTTTT[C/T]AAAGGGAGCTAAGGCACATCCACTCCAAGAGACCTCGCACTAAAACTAGCCTGAAAATCAGTCGGCACTCTCTGCTGGAGTCGGTAAGCAAATCTGCCAGATCATTCCTTATGCGCCATATACAACAAGTTACACAACACAACAATGAAGGAGTAAAGGCCTGTTCACTGCAAACACAACAACTATAAAGATAATAATAAAAGTATAGTTCTGAAACTGGCTGGCAGCTAGCTCTCTGCACCTTTCACGTGGTTGTCTGCTAGAGCTGTGAACCTACACTAGTCTCACGGTTCGGTTCGGTTACGATTATCATGCCATCGATTCGGTTCAATTCGATATTACGGTGCATTGACGGTGCTTTCGATACACAGTTTTATATTTTCTTCACATTTTTTGTATTTAAATGTATGAATATATTTATATTTATATACTATTTGTAATACAATTTTGTCATTTAATACAAACAGTCAGAAATATGAACTGTAACTTTAAACAAAACG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36529
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000125532 | Nonsense | 788 | 1020 | 15 | 21 |
Genomic Location (Zv9):
Chromosome 17 (position 50044660)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 49418347 |
GRCz11 | 17 | 49518192 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTGGTACGAGCCCGATTCACCCGCTCCTTCTTGGCTCAGATAATTGGAT[T/A]GCGAATGAACTATAAGGTAACAACTGATTCATAACCTGCTGATAAATGTA
Long Flanking Sequence:
AGTGACACCAGATAAGATTTTTTAATGTATTTACACAAAAAAATCTTATTTAATGTATGTATTTGTTGATTTTTAATTGCATATGTATAATTGAAATGTTCCTGCCCTGAAAATAGCCTTGGTTACTGACATGGCATTAAATAAAAAATACATTACATTATTGCTTGATATTGTTGTTTCCAGATGAAAGAGAAAACATGTATTGTTTTTGTAAAAATCTGTAAAGATTGTGTAAAGACGTCTGTACAGTTGTGTATGTGTATTAAACTGGATTTTGTAATTCTTTAAAAACAATAAAATACTTAATCAAGAGCTGATTTGTTTGTTTTTTGGACAGGTCCATCCAAACGCTGAACGCCCCCCTCACCTGAGAGTGAAAATGTATGAGTTTGCAGGCCGGGTTGTGGGGAAATGTTTATATGAATCCGCTTTGGGCGGGTCCTACAAGCAGTTGGTACGAGCCCGATTCACCCGCTCCTTCTTGGCTCAGATAATTGGAT[T/A]GCGAATGAACTATAAGGTAACAACTGATTCATAACCTGCTGATAAATGTACATTTCAGTAGCTTTGTTTTCTTCCTTATGCGCCAAACTGGAGTACAGCATAAAACTGTGAATAAAGCTGATCTTCTCTTGTCTTATTCAGAGCCACAGACCAGTGTGTGTGTGTGTGTGTGAATAAATTATATTATTTATACACACAATACTGGTCAAAGGTTTGGAATGAGTGTGATTTTTGTTTGTTTTATAATAAGCTTATTCTACTCACCAGGGCTGAATTTATTGAATGAAAAAACTCAAATTATTAAATATTATTACAGTATTAAATTAATTTGTTGAATGTACTTAAAATGTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
Associated Phenotype:
Not determined