Busch Lab

ZMP

KIAA0317

Ensembl ID:
ENSDARG00000090858
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.
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
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