Busch Lab

ZMP

LOC566628

Ensembl ID:
ENSDARG00000024936
Human Orthologue:
PSKH2
Human Description:
protein serine kinase H2 [Source:HGNC Symbol;Acc:18997]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa35369 Nonsense Mutation detected in F1 DNA Not yet available
sa14690 Essential Splice Site Available for shipment Available now
sa42093 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35369
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
ENSDART00000037703 Nonsense 19 389 1 4
Genomic Location (Zv9):
Chromosome 12 (position 43490978)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 40855362
GRCz11 12 41349923
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAGCTCTGGAAAAGTCTTACCCGAGTCTTCCTCTTCCAAACGAGGATA[T/A]TTTTGCCTCTTCAACTCGATTGTGATCTTCAACAAACAAGAGTCTGAGGG
Long Flanking Sequence:
GTTAGAACAAAAAGCAAGCATATTTTTTCAGCACTGTAAAAAATGCAGGGTTCCACCCAATTCCAGCATGCTGTCTCAACACAAATCAATTAAGTTTACTTTATTGTTTTTACTAAATTAAATTGGACTGAACATAAACCAATTAAGTTGTCCCCCCCAAAAAAAACTCAGTAATTGTTGATGCAACTCATTTTAAATAAGTATAAACAAGGAGCACATCTGGTTTCCTCCACAGGTGATCATGAGTGTGTGTTTGTGTATTGTCAGAGTAATGATGCTGTGTTTAAAGTCTCCTGAATCAAACAAGCGTCGCTCAGGTGTGATTTCTGACACCTGAGCTGAAACTCCAGCAGCTGCACAACCTCTAACAAACACAAAAGCAGCATCAGTGAAGGTCTGGAAGGAAGATTTCCAATGCTTCTCAAACCTCATAAGGTGTTTATAATGGGAAGCAGCTCTGGAAAAGTCTTACCCGAGTCTTCCTCTTCCAAACGAGGATA[T/A]TTTTGCCTCTTCAACTCGATTGTGATCTTCAACAAACAAGAGTCTGAGGGCGAGAAGTGTGTGGAGAAACAACAAACCGGGCTTTGGAAGAAGAGAAGCGACGGAGGAGCTTCAGGAGAAGAGCTTCATCTGGAGGAAAATATTGAGAATCGCAATGCAAAGTTCCGTGCCAAGTTTGATCCACGCGTCACCGCCAGGTACTGATGATCTGCTTACTCTGGTTGTGTTCAGAATAGTTTAACACATACTGAAAAAACTGTATATACAAGTCACATGCAGGTGCATCACTGACAAAAAAGGATTTGTTGGATTTACTCATTTTTTTAAGTTAAGTGGTTGCAAACTATTTCTATAGGCTAAATTTAAACAAACAATTAATCAGAATAGTACTAAATTTAATTTGTTTAAATTCAGCCCAAAGAAGTTGTTTACAACCGCTTAAGAAATATATACATTTGATGTCAGAATTATTAGCCCCCCTTTTAATTTTTTTAAATATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14690
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037703 Essential Splice Site 234 389 2 4
Genomic Location (Zv9):
Chromosome 12 (position 43485771)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 40860569
GRCz11 12 41355130
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGACARGACTCGCGGCTGATCATCACAGATTTYGGGCTGGCCTGTTGGGA[T/G]AAGTCCATACAGAGGGATGATCTGGAGTTGACTGTGGGATTWGAGGAGAA
Long Flanking Sequence:
ACAAAATCAATATGGTTAGGTTTGATTTCATGTGTACTTTAAATGTGTTATAGATATGAGATCCAGGCTCTGATTGGTCGTGGCAGCTTCAGTCGTGTGGTTCGCGCCGAGCACAAACAGACTCATCAACCATTCGCCATCAAGCTCCTAGATCTCAGAGCTCCGGAGGGTCTCGAATCCTGCCAGGCGGAGCTCAGGGTTCTTCGACGGGTCAACCACCCCAACATCATCCGCCTGACGGAGGTCTTCCAAACCCCACACCGCGTCTACCTAGTCCTGGAGCTGGCCACAGGTGGAGAACTGCTGGAGCGAGTGCTTTCCCGAGGAACATTCAGAGAACGGGATGCAACCAAGGCCTTATTGATGGTAACAAGTGGCCTGGCGTACCTGCATAATCTGGGTGTCATCCATAGAGACCTCAAACCCGAAAACCTGCTCTACTACCATCCAGGACAGGACTCGCGGCTGATCATCACAGATTTCGGGCTGGCCTGTTGGGA[T/G]AAGTCCATACAGAGGGATGATCTGGAGTTGACTGTGGGATTAGAGGAGAAAGGTTGGGCGTTGAGGACACTCTGCGGGACGCCTGAATACCTGGCACCGGAGATGTTGGCGCGGAGAGGCTGTGGCAGAGCGGTGGACATGTGGGCGCTGGGCATCATTACATACGTCCTGCTGAGCGGATCATTGCCCTTCGACCACAGCAGCCGAGCCAAACTCTTCAGGGCCATCCTCAAGGGCTCATACAGCTTCCACGGGGAGGTGAGTGTGTGTTTTTTTTCCTCTTTCAGGGTGCAGATGCAGACTTTCGAGAGCATGAAAGCATAGGCGGAGCGTGAACAAACTCCAGGGTAAAGGCCTGTTTACATAGCGCATAATAATGATAAATATAGCATTAAATATATTTGAGTTCACACACACAAACAATGAAATGACCTGTTATTGAAATGACCTTGCCATTATCCCATTGTACCCACCACGAATGTCATTATCTTTAAATAATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42093
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037703 Nonsense 251 389 3 4
Genomic Location (Zv9):
Chromosome 12 (position 43485681)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 40860659
GRCz11 12 41355220
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAGAGGAGAAAGGTTGGGCGTTGAGGACACTCTGCGGGACGCCTGAATA[C/A]CTGGCACCGGAGATGTTGGCGCGGAGAGGCTGTGGCAGAGCGGTGGACAT
Long Flanking Sequence:
AGTCGTGTGGTTCGCGCCGAGCACAAACAGACTCATCAACCATTCGCCATCAAGCTCCTAGATCTCAGAGCTCCGGAGGGTCTCGAATCCTGCCAGGCGGAGCTCAGGGTTCTTCGACGGGTCAACCACCCCAACATCATCCGCCTGACGGAGGTCTTCCAAACCCCACACCGCGTCTACCTAGTCCTGGAGCTGGCCACAGGTGGAGAACTGCTGGAGCGAGTGCTTTCCCGAGGAACATTCAGAGAACGGGATGCAACCAAGGCCTTATTGATGGTAACAAGTGGCCTGGCGTACCTGCATAATCTGGGTGTCATCCATAGAGACCTCAAACCCGAAAACCTGCTCTACTACCATCCAGGACAGGACTCGCGGCTGATCATCACAGATTTCGGGCTGGCCTGTTGGGATAAGTCCATACAGAGGGATGATCTGGAGTTGACTGTGGGATTAGAGGAGAAAGGTTGGGCGTTGAGGACACTCTGCGGGACGCCTGAATA[C/A]CTGGCACCGGAGATGTTGGCGCGGAGAGGCTGTGGCAGAGCGGTGGACATGTGGGCGCTGGGCATCATTACATACGTCCTGCTGAGCGGATCATTGCCCTTCGACCACAGCAGCCGAGCCAAACTCTTCAGGGCCATCCTCAAGGGCTCATACAGCTTCCACGGGGAGGTGAGTGTGTGTTTTTTTTCCTCTTTCAGGGTGCAGATGCAGACTTTCGAGAGCATGAAAGCATAGGCGGAGCGTGAACAAACTCCAGGGTAAAGGCCTGTTTACATAGCGCATAATAATGATAAATATAGCATTAAATATATTTGAGTTCACACACACAAACAATGAAATGACCTGTTATTGAAATGACCTTGCCATTATCCCATTGTACCCACCACGAATGTCATTATCTTTAAATAATCTTGTAAAGGGATGGTCCACAGTGTATTTTTAGGGCTTGTTTGTGTTTATAAGATTCAAAGCAACGTGTGCTCATGCTTCATTTGTAGAAA
Associated Phenotype:
Not determined