Busch Lab

ZMP

si:busm1-118j2.12

Ensembl ID:
ENSDARG00000018393
ZFIN ID:
ZDB-GENE-040724-121
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:Q7SZV7]
Human Orthologue:
KANK2
Human Description:
KN motif and ankyrin repeat domains 2 [Source:HGNC Symbol;Acc:29300]
Mouse Orthologue:
Kank2
Mouse Description:
KN motif and ankyrin repeat domains 2 Gene [Source:MGI Symbol;Acc:MGI:2384568]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa20153 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa33329 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa20153
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022432 Essential Splice Site 422 862 5 15
Genomic Location (Zv9):
Chromosome 3 (position 56028407)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 54922133
GRCz11 3 55176735
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTACAGTGGTATTCTGCTTTTTTGGTACCTTTTGGTATCACAGAAAGAG[G/A]TCATACTAACATGAGGGTGAGAGAACTGACTATTTTCAGTGCTAATTTAG
Long Flanking Sequence:
TACCGATTTATTTTATCTTTGACAGTGAATAATATTGTACTAGATATTTTTAAGACACTTCTATTCAGCTTAAAGTGACATTTAAAGGCTTAACTAGGTTAATAAGGTTAACTTGGCAGTTTAGGGTAATTAGGCAAGTCATTGTATAATGATGGTTTGTTCTGTATCAAAAATAAAATATAGCTCAAAGGTGTTAATAATATTGACCTTAAATTGGTGTTTAATCATTTTTTTAAAACTGCTTTTATTCTAGCCTAAATAAAACAAATAAGACTTTCTAAAAAAAATTATTAAACAAACTGTGAAAATATATTTGTGGGGCTAATAATTCTTACTTTAAATATATGCATTGTATGTTGCAGTGTCTGTATACATGATGAAAATCTAATGTTGCCTTACTACTTTTATTTGGGTTTTTTTGTGTCATTCGTGGAGACCATTTTCAAATTGTTTACAGTGGTATTCTGCTTTTTTGGTACCTTTTGGTATCACAGAAAGAG[G/A]TCATACTAACATGAGGGTGAGAGAACTGACTATTTTCAGTGCTAATTTAGACTGTTTCTGTTTTGCTCTCAGATTCGCCACATGAGTTTCCCATTGCAATAAGCTCTAAGCAGGTGCGGGAGGTCTTGAGAAGTGAGGTCTCCAAATCAGTGCCAGTGACCAACCAGGCAACTCCTATGGAGACAAAGTGCAACCAAGTGACTGCGGTCTGCCAACGGCTAAAAGAAGGAGAGATTAACCAGCAACCAGCAGAAGAAGCCATTCAAGTTGATCCAGCCAATCCAGGTGTGATATGACTAACCTATCAGAGAACCAGACATTTCGATATTTTGGCAAGTGATTCTCACCATGTGTTTCTGTATTTGTCTTGTTCAGCATCCCCTCAGTCTAACCTGAGGTCAATCATGAAGAGGAAGGCTGATGGGGAACCTGGCTCTCCATACACCAAAAAGAACCTGCAGTTCTTAGGAGTCAATGGAGGGTATATGCAGAATTCATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33329
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022432 Nonsense 558 862 8 15
Genomic Location (Zv9):
Chromosome 3 (position 56026887)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 54920613
GRCz11 3 55175215
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAGCGAATACCATGAGGCTACGGAAAAACTACCGGAATCAGCGACACCA[C/T]AGTCTCTGGTGTCCTCCTGTATCCCACAGCTCGCCTCTGAGACACCAGCT
Long Flanking Sequence:
ACAAATTTAGGATTTATACCAGTTAAAAATGTATCAATCCGCGGATCACATGTGTTCCGAACAGTGGATTGTGATCTGTGTAAATCACGGATCAACCATGATCCATTACATCCCTACTTTGTTGTAAACTTACTTTGGTGTTAGGTTAGTGATTTTTTACTGTGCACTTCAAGAAATTTGCCAATTAAACCTAAAAAGAAAATGCATGATAAGCTCCATCTACACAAAATCAAACAGTATTATTTTGCTGCAGCTGTTATATCGCAGCACTTTTGCTTCCTTCAGGAACTACACATTTAGTTTAGATGATCCATTTGGGAACTATTTTATAAGGATTTTGTGAGAAAAATTAGCAGCAATCTGGTAAATAACAACACTAATTTGCCCTCAGGTACGAGTCAACATCCTCCGAAGAGAGCAGCTCTGAAAGTTCAGAAGATGAAAGCGATGCAAGCGAATACCATGAGGCTACGGAAAAACTACCGGAATCAGCGACACCA[C/T]AGTCTCTGGTGTCCTCCTGTATCCCACAGCTCGCCTCTGAGACACCAGCTACCCAAACAGCTCAGCACAGCACTGCCCAGATACCAACCAATCACACTCCAGCAGCTCAAACCACCAGCCAATCACACACCACAGATGCAACTACCCAACAACATGTCACCCAATCACCAGCAGCAGAGGCTGATGTACAGCACTGTGTCAGCCAATCATCAGTGACCACCACACCTCCTCCAGAGGGAGATGTTCAATGTGTTTTTCAAGGGTGTAACCCTCCAAGCACTGCCACTTCTCTTGAACAAAACTCTGTCCAGTTGTCATCTGCGACGCAGCAGTCCAAAGCCACTGATTCAAACGTCCAGCCAGATCTCGCTCAAACAGATGTGTCGGACTTCGCCGCTCAGCAAACGACCACTCAAACACAATTCACCAGTGCCAAACCTCAGCAAGAAGCTAGCCAATCAAAAACTGCTGACCTCACAGCCCAGAAAGGAGCGACACAC
Associated Phenotype:
Not determined