Busch Lab

ZMP

LOC100332312

Ensembl ID:
ENSDARG00000053311
Human Orthologue:
KIAA0748
Human Description:
KIAA0748 [Source:HGNC Symbol;Acc:29109]
Mouse Orthologue:
5830405N20Rik
Mouse Description:
RIKEN cDNA 5830405N20 gene Gene [Source:MGI Symbol;Acc:MGI:1914846]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa9579 Splice Site, Nonsense Available for shipment Available now
sa810 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa9579
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:
T > A
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075337 Splice Site, Nonsense 140 585 7 10
Genomic Location (Zv9):
Chromosome 6 (position 46653993)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 46714927
GRCz11 6 46716809
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACTTTAACTTTGCTTTTGTCTTTCATGACATCTCAAAAACCCATCAGTT[T/A]GWCTGAGGTCCTTCAGATGCGTGCAGAAGATGCAGAGGAAACYCTTTTCC
Long Flanking Sequence:
TTATTAATAAGTGATTTGAGTCATTGCAGAGATGTATGAATGCAGTTGTCCAAGCTCATGGGAGTCATACATAATTCTTTTTCCACTGCACCATGACTTTATATTCTATACTGTACATTATATCTGTTAAGTGACAAGACTTTTGTTTAAGCACTTATTTAATTTTGGCAAAATAAGCGTAATTTAGAACTCTTGGTCTTTCATATAAGCCATTTTTGATACCAAATGATCAACTGGAAGTTAAGTTGTTATTTGTTATTCCTAAAACTTGAATAGGTGACAAGACTTTTGTCAGGTGGTGTACTTTACTCCTGTTGGTGTCTAAAAATGTTATACAATCATGCAAAATACTCATTAAATGTGTATAATAGGAACTCAAAAAATATGTAGGGCTTTGTGAATGATTTAGTGGTCATAAATTTTGCGCACCTAAACCTGAAGTCTCTTATTCACTTTAACTTTGCTTTTGTCTTTCATGACATCTCAAAAACCCATCAGTT[T/A]GTCTGAGGTCCTTCAGATGCGTGCAGAAGATGCAGAGGAAACCCTTTTCCAGTTGGGTTTTGGTTGCGAGGAACCACAAGTGACCGCTCGCATCCCAGTCCGCTTCTTCAACTTTCCGTCCCAGCTCCGAGGCATTAACTTCCGTTTGTTCCTCGAATCCCAGCTCTCAAGAATACGCCAGGAAGACCCCTGTCTTTCATTAGCAAGTAAGAAATTACCCTCGCACTAAGTGGCCTTTAAATACTATGTACCTGCATCAAAGAATAAATACAATGTACTTCATGTATTGAAGAACACTTCTGGTGGGATACGGATTGGGTTAGGGGCAGGTTTGGTGGTATGAGTAGATTTAAGGGTGGGTTTAGGTGTAATTTCAGTGTAAGTACATACTTTAATTAAGGGAACTTAATATAAAGTGTGACCAAAATTACAGAATACAGTCTTCTTCTACATCTTTAGATGGATTTTTTTGCACGTTTGCTCACCTTCATCTCTGGTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa810
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
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075337 Nonsense 233 585 8 10
Genomic Location (Zv9):
Chromosome 6 (position 46654573)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 46715507
GRCz11 6 46717389
KASP Assay ID:
554-0715.1 (used for ordering genotyping assays)
KASP Sequence:
CATTGACGGCAATGGCGAACGCCTTCTACTCGTTGTACTCCCATGTGTCC[C/T]GAACACCACTCCAAAAGCTCGCACCGCCCCAGTTAACCTTCACCTCCCCA
Long Flanking Sequence:
GTGACCGCTCGCATCCCAGTCCGCTTCTTCAACTTTCCGTCCCAGCTCCGAGGCATTAACTTCCGTTTGTTCCTCGAATCCCAGCTCTCAAGAATACGCCAGGAAGACCCCTGTCTTTCATTAGCAAGTAAGAAATTACCCTCGCACTAAGTGGCCTTTAAATACTATGTACCTGCATCAAAGAATAAATACAATGTACTTCATGTATTGAAGAACACTTCTGGTGGGATACGGATTGGGTTAGGGGCAGGTTTGGTGGTATGAGTAGATTTAAGGGTGGGTTTAGGTGTAATTTCAGTGTAAGTACATACTTTAATTAAGGGAACTTAATATAAAGTGTGACCAAAATTACAGAATACAGTCTTCTTCTACATCTTTAGATGGATTTTTTTGCACGTTTGCTCACCTTCATCTCTGGTTCTCATGCAGGTCGTTTCCGACAAGTAGAAGCATTGACGGCAATGGCGAACGCCTTCTACTCGTTGTACTCCCATGTGTCC[C/T]GAACACCACTCCAAAAGCTCGCACCGCCCCAGTTAACCTTCACCTCCCCAATTGTGGAGAGGTCAAGGTCTCGAAACAGTGTCCGCAGTGAACCACGCTCCCCTGTTGAAAGACTAAAAGACACTATCTCCAAGATGTGCTTGTATACAGGATCTCGTGGTTCGGACTCTACGCCTCCAAACAACTCACCCCGAAAGCGTAAAAGTAGTCTCTCAGGTGTTGTGGAGAAGAGTGCAGAAAATAATAATGATGACACCGAACAAGATTTATGCCTTCAAATGGAAGTAGATTATTTGGACCAAAACCTAGACTGGTTTATAGACAGCAGGACAGAACTTAACAATAGGACTTGTGAAGAAAACACTGAAAGGACTGATTACTCTGAGCCTATACCTTGTGAGTCACTATCTGGGATGACAAGTGAAAATGTACACAAGCACAGACACAGATTAGAAGAGTGTACACCATGCCTGGAGCCAAAAACGGACATGGACAAGAAG
Associated Phenotype:
Not determined