Busch Lab

ZMP

si:ch211-171h4.3

Ensembl ID:
ENSDARG00000020455
ZFIN ID:
ZDB-GENE-081031-85
Description:
Novel kinase protein [Source:UniProtKB/TrEMBL;Acc:B8JL89]
Human Orthologue:
SBK2
Human Description:
SH3-binding domain kinase family, member 2 [Source:HGNC Symbol;Acc:34416]
Mouse Orthologue:
Sbk2
Mouse Description:
SH3-binding domain kinase family, member 2 Gene [Source:MGI Symbol;Acc:MGI:2685925]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa36792 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43239 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa36792
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004375 Essential Splice Site 118 336 3 4
ENSDART00000145319 Essential Splice Site 118 238 3 4
Genomic Location (Zv9):
Chromosome 19 (position 11042369)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 10500908
GRCz11 19 10419833
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGCAGCCCTGCCTTTATGGTGACCTCTATGATGTCATCGTTCCTGAGG[T/C]ACGTTTCATGCATCTAAACAATGACTGGTCATGATGATTGAAATTAAACA
Long Flanking Sequence:
CATTTTGAGGGATGTAACCAATAACAATGGTCCTAATTAATTTTCTGTGCAGCATTTTTAATTTCCCAAGAATGTCCAAGAATCTCAAACAGTCCACATATTGATAAACAATGTTATGATGGCTGTTTTAACATTAAGATCTGATTAAAATGTCTCTTTTTACCACTATGAAATATTTTGACAACAAGCAGGGAATGTTTATGGGCCAATGACATCGCCACATCTAAATGGTTAATACCAATTCTTCTTTCTGTATCTTTGACTGATTATTTCTCTAAATCTGTTTTGTAATCTAGGAACCCCAATGGCCCTTAAGTTCTTCCTGCGAGACTCTACCTGTCTCCTGTCATTTCTGAGGGAGTATAATCTCTCTTTGGCCTTCTGCAAGCACCCCTCACTTACCTCAGCTTTGGGTATCGCTTTCTCCACTCCCACTCACTATGTGTTCGCCCAGCAGCCCTGCCTTTATGGTGACCTCTATGATGTCATCGTTCCTGAGG[T/C]ACGTTTCATGCATCTAAACAATGACTGGTCATGATGATTGAAATTAAACACGTCAAAGCTGATTCGAGAAAATCTCTCAACCTTTAAAACCCATTAAATCAGGGGTGTCCAAGCTTGTCCACTGTCCTGCACTGTCCTGTTAGCTCTGACCTTGGTGCTGAGTTTACAACAAGGCTGAAACCCGGAGCACAGCGAGAGGCAGGAGAAAATAGATATCAAATCACAAATGTAAACGGTAGCAGAACCATGAACTGCTTTACATGTTAAAATCAATGTCTCAAAATCAATACAAGACTAAGAGGGCAACTAGTGAAGCTGTTGGAGTACAGGAGTAATGTGAGACCGAGATGATTTATGTGATAACACATGCAGCAGAGTTTTGGAAGTATTGTAAAATCTTGAGAGAATTAGCAGGAACTTTTACGCATCCTCCATTCTTGCAGTCTTGAGGTTTGGAATTGAACTTTGGCAGTTGATGATGACATTACACAAGAACACGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43239
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004375 Nonsense 245 336 4 4
ENSDART00000145319 None None 238 None 4
Genomic Location (Zv9):
Chromosome 19 (position 11039031)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 10497570
GRCz11 19 10416495
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTCTGTGGATCCCTGTACGGACAGCTGGGCATTGGGCATTTTAATCTA[T/G]GCCATGCTGATGGGGAGCCTTCCATGGTCTGAGACTGTTAAAGACAACAC
Long Flanking Sequence:
TCACTGCTTTAATCCATTAAAGTTTGAAGTGCTTAAGTAAGGGATGTCCAATCCTACTGCAACGTGTAGCTCAAATTGGACATCCCAGTCTTAAGTACATTTTTGATTTCTTGATTGCAGGTTGGTCTGGAAGAGAGCCGTACCCAAGGAGTGGCTTCTCAGATCAGCGGTGCCCTCTCTCACCTCCATTCCCTTGGCTTTGTCCATCGTGATGTTAAGCCAGAGAACATCTTTCTATGCGATCGCGACTGCCGCTGGGTCAAGCTTGGCGATTTTGGCATGGTGAAAGCTGCAGGGACTAGGGTCCCGTGTGTGTGGTACAGCTCCCCATACTGCACGCCTGAGGCTGAGATAGCAAAGAAAAAGGTGGAGAGCGATTCAGGAGACACAGATGTGGATGACAATGGGAACAAGCTAAATGTGGACTTTGGCAAGACCCAAAGGATTTTGGTGTCTGTGGATCCCTGTACGGACAGCTGGGCATTGGGCATTTTAATCTA[T/G]GCCATGCTGATGGGGAGCCTTCCATGGTCTGAGACTGTTAAAGACAACACTGCATATAAAGGCTATCTACAGTGGAGCAAATGGGAAAGTTCTGCATCAGAAGATCAATCCGAGGACCTCTATCAGTTGGCACCACAGTTTGGGGCATTCACTCCTCTTGTAGCCTCTCTTTTTAGGTCCCTGCTCCATCCACTGTCCAGACTTCGTGGCCGGCCAGATGAAGTAGAGAAGTACCTTGGGGGAGCTTGGCTTCTGGACAAGGATGTCAGTGGGTGATACGTCAAAGAAAGGACAAGTCTGAGAATAGTAGATTGTTGTTATTTGGTCATTCCCTCTTTAGTGGGAAAAATGGTGATGACTTCTTGGAAGAGGTTCCAATGGTAACACACATGAACTCTACAGAGGAGGAGACAAGGTGTATAGGAATACCGAAAAACTTGGGCCTCAATCCACAGTCCGGCAACATTACTGCACTCCGAAACAATGTGCAATGACTGTAA
Associated Phenotype:
Not determined