Busch Lab

ZMP

si:dkey-11e23.5

Ensembl ID:
ENSDARG00000030116
ZFIN ID:
ZDB-GENE-030131-8832
Description:
hypothetical protein LOC336888 [Source:RefSeq peptide;Acc:NP_001038220]
Human Orthologue:
KIAA0247
Human Description:
KIAA0247 [Source:HGNC Symbol;Acc:19956]
Mouse Orthologue:
4933426M11Rik
Mouse Description:
RIKEN cDNA 4933426M11 gene Gene [Source:MGI Symbol;Acc:MGI:2444661]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa45703 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa37055 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa11637 Nonsense Available for shipment Available now
sa8975 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa45703
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046042 Essential Splice Site 170 364 4 7
Genomic Location (Zv9):
Chromosome 20 (position 28922995)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 28994208
GRCz11 20 28897087
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCGGAGAGTGGAATTCGCCCATGCAGATCAGCTGTCACCCTGTGCAAGG[T/A]ACATCTCACAGCAGCAGCAGACTAATCCACACACTTGGACATTTGAACAT
Long Flanking Sequence:
GGCTCCTTCTCTGTTGGCACGCTGCTCCAGTACAGTTGTGATCCAGGATACACGTTGGACGGCGTAAGCATGATCTCATGCACCGTCACTGGCCAATGGTCCTCTAACCCACCTCGCTGCATCAAAAATGATGGTATGTATGATGGTACGTGTGTTTTTCCATATTTCTTTCTCCTTAGAGGCTATTGCTGTGTTTGTTTTATGGCAGAATTACAGTGAATATGTTTCAGAGTAGAAAAAAAAATTCTAGAAGTTCTAGTTTCTCTTAGTTGATCTGACTTGAAGCTTTTTTCCCTTCTAACAGTCTGCCAGCCACCAAGTGAGCCAGAAAACGGAGGGTACAACTGCCACCCGTCGCCATGCCACAGACTGACCCAGGGTACCGTGATTGAGTACTTTTGTGATGAGGGTTACATCCTGAAAGGAGGCTATCAGTTCCGAACCTGTGAAAGCGGAGAGTGGAATTCGCCCATGCAGATCAGCTGTCACCCTGTGCAAGG[T/A]ACATCTCACAGCAGCAGCAGACTAATCCACACACTTGGACATTTGAACATTCTTTTGTGATCTTAAATATAGGCAGATTTCCTTTTTTTGGAAACTTTGCGAACAGAGGTTTAAATGCAATATGTTAAATGGACATATTTAAGTTCTTTAGATCAGGGGTCTGCAACCTTACAACACAGAACAGTCTTGGTATTGATAATTTTTCGTGGACCAGAGAGGCTAATTTTTGGTTGGTAGGTGTTGGCAAGTATGTACATGAAATTATATTTGTAAAACACATACATTCAACAACAAATTAGCACAACTCCCCATTATTGAGATTAGTGATGTTTCGTTTTTGAACAAATCATTTGTATGACTCAAGAACGATGAGTCCTCTTAGAGAGTGATTCGCTCATTCGTGCATATGCACAGTTGTGCAGGTTGAGGAGAAGATTAGTTACTTTTTCGAATCTTTTATCGGGTTTGAGTCGTTTAATCATCACGTAAAAGACAGAAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37055
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
ENSDART00000046042 Essential Splice Site 216 364 5 7
Genomic Location (Zv9):
Chromosome 20 (position 28918864)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 28990077
GRCz11 20 28892956
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTGTTTGTTTTGCTTCAGCCAAAACTCAAGTCCTTCCATCACAGCCGG[T/C]GAGGCCCGTCTCCCTCTCATTGAGTGTTACGTCTTCAAAAACGAATGTTT
Long Flanking Sequence:
TTCTCTATCAAAGAACAACACTTAGGGCTCTTTCTGGCCTATCCTGGGATTGTTTAAAACAATGCAGCACACATTTCACTATAAATATTACATTTTGACGGAATAGTTATAAGCCTGACCTTCTAAGTCACAGTCTTTCATGCAATAACTTGCTCTGTCTGCGCTTTCCAGTTTTCATACAAACCTAGCACAACATTTAGAAATGACTCCAACACCCTCTGAAATCATCAAAACAGGCCAAGATAAACAGTTTAGCATGCTAACCACCTTTTTTTTTACTGCTTTTACTACAACTAGATATACATCACCGTGAACTTGTTTAAGCTTTATTACTCAAAGAATTTTTTTTTCTTGTTCCAGGGGAGGAGCAGCACTCTTCATTGCCCATGCCAGCTCTCTCTATTGTGGCCTCTACTGCTAGTTCTGTTGCCCTCATCCTTCTGCTGGTGGTGCTGTTTGTTTTGCTTCAGCCAAAACTCAAGTCCTTCCATCACAGCCGG[T/C]GAGGCCCGTCTCCCTCTCATTGAGTGTTACGTCTTCAAAAACGAATGTTTTATCAACACAAAGAAAGAGAGTGTTACGTAGAGCTATTAAAGGCACAGTGGCAAATACAGTCTGTTTAACTTTAACCTTAAACCGAAATGATGGTTATTTAGTTAATTACGGCTTCAGGAGGATAATAATAATAATAATAATAATAGTGGCCCAAAGAAATAATTTGAGTATTTAATGGAAATAGCCCATAGCCAGGAGGGTTCGGGTGGTCAAAAAGACTCACCCCCACTGACAAAGTCCAAAATTTGACTTCTTTATGAGCTCATTTATCCCATTTGTGACTGCTATACGATCATGAATTGTGAAAATTATAGATCGAAGAAGACCAAAACAAATTTCATTTTTAATTATTCAAGTGGCGAAATTCTGACTGAGGAAAGTTGAATGAGCTGACCAGCTTTTATTTGCCCATAGGCTACAGTTTTTATTTTAAAACAATTTTACCAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11637
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
ENSDART00000046042 Nonsense 279 364 6 7
Genomic Location (Zv9):
Chromosome 20 (position 28917061)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 28988274
GRCz11 20 28891153
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCGTGCTGTCGGAGGGCCCTCAAGCTGAGGCTTTGCATGAACCKCTGGAA[C/T]AGGCTCAGGCGAGCTACAGTTTCCCTTCCACCTCCGCTGCWGCGAGCTCT
Long Flanking Sequence:
CTTAAAGATGTTTGATATACAACACAAAGACATCCATTCAAACGTTCAATATTTTCTTCTTTCGAGAACATGTATGGCTAGTTTAAAAGTTACCAATGTATTAATTTTGGTAGCAAGCACAGATAAAATCAATCCTGATCCCAACTGTTAGACATGAACCAATATGGCACATCCCCGACGGCGCTGTTGTTCCAGTAATTTGCTGTTGCGTAATCAGCTGTGATGTAAGCCACAGATCAGATCAGGCAGGTCAGGATTTGATACGGTTTAGGCTTTATTTTTATTCTCACATCTTTCCCTCTGTGTTTTGAAGCAGCCGGGAGCAGGGTGTGTCAGGACAGCACTCCTCCATGATGGTGGGGGGTGTTCAGGTGTCGCTGCCCTCCTATGAAGAGGCTGTGTACGGGGCGGGCGGCACTTCTGTACCTCCTCCAGAGTCGCGGGTGCAGATCGTGCTGTCGGAGGGCCCTCAAGCTGAGGCTTTGCATGAACCTCTGGAA[C/T]AGGCTCAGGCGAGCTACAGTTTCCCTTCCACCTCCGCTGCTGCGAGCTCTTGTCACGCAGAGACTGTACTGGTTCACCAGGTGGCCTGTTCCTCCTCTCCCTCCTCCTCTTCCTCTCCCTCCTGGGCTGTTGAGCAGCCTGGTGCCGCTGCGCCTCTCCACCGCCAGCAAAGCAGCGAGAGCAGCGACCAGCACAGCCTGCTTTCAGTCACCTCTGCTGAAGACTATGGCGATGGTGAGTCAACTTGCACATTTAGATCTAGAAGTGATTGGTGGCAAAATTTGCTATATTTTCTAATTAATATATAATTCATTTTATATTATATATTTGACTATATATTATGTGCATTTCTTTATTATAAAAAATAATACACAGCTGAATTTTATTAGCCCGCAGTCAGAATTTTGAGCCCTCCTGTGAATTTATTTTTTCTTTTTTTGAATATTTAAATTCAGGAAGGCTAATAATTCTGACTTCATCTGTACATTGTGTACATAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8975
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
ENSDART00000046042 Nonsense 279 364 6 7
Genomic Location (Zv9):
Chromosome 20 (position 28917061)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 28988274
GRCz11 20 28891153
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCGTGCTGTCGGAGGGCCCTCAAGCTGAGGCTTTGCATGAACCTCTGGAA[C/T]AGGCTCAGGCGAGCTACAGTTTCCCTTCCACCTCCGCTGCWGCGAGCTCT
Long Flanking Sequence:
CTTAAAGATGTTTGATATACAACACAAAGACATCCATTCAAACGTTCAATATTTTCTTCTTTCGAGAACATGTATGGCTAGTTTAAAAGTTACCAATGTATTAATTTTGGTAGCAAGCACAGATAAAATCAATCCTGATCCCAACTGTTAGACATGAACCAATATGGCACATCCCCGACGGCGCTGTTGTTCCAGTAATTTGCTGTTGCGTAATCAGCTGTGATGTAAGCCACAGATCAGATCAGGCAGGTCAGGATTTGATACGGTTTAGGCTTTATTTTTATTCTCACATCTTTCCCTCTGTGTTTTGAAGCAGCCGGGAGCAGGGTGTGTCAGGACAGCACTCCTCCATGATGGTGGGGGGTGTTCAGGTGTCGCTGCCCTCCTATGAAGAGGCTGTGTACGGGGCGGGCGGCACTTCTGTACCTCCTCCAGAGTCGCGGGTGCAGATCGTGCTGTCGGAGGGCCCTCAAGCTGAGGCTTTGCATGAACCTCTGGAA[C/T]AGGCTCAGGCGAGCTACAGTTTCCCTTCCACCTCCGCTGCTGCGAGCTCTTGTCACGCAGAGACTGTACTGGTTCACCAGGTGGCCTGTTCCTCCTCTCCCTCCTCCTCTTCCTCTCCCTCCTGGGCTGTTGAGCAGCCTGGTGCCGCTGCGCCTCTCCACCGCCAGCAAAGCAGCGAGAGCAGCGACCAGCACAGCCTGCTTTCAGTCACCTCTGCTGAAGACTATGGCGATGGTGAGTCAACTTGCACATTTAGATCTAGAAGTGATTGGTGGCAAAATTTGCTATATTTTCTAATTAATATATAATTCATTTTATATTATATATTTGACTATATATTATGTGCATTTCTTTATTATAAAAAATAATACACAGCTGAATTTTATTAGCCCGCAGTCAGAATTTTGAGCCCTCCTGTGAATTTATTTTTTCTTTTTTTGAATATTTAAATTCAGGAAGGCTAATAATTCTGACTTCATCTGTACATTGTGTACATAAAA
Associated Phenotype:
Not determined