Busch Lab

ZMP

khdrbs1a

Ensembl ID:
ENSDARG00000052856
ZFIN ID:
ZDB-GENE-000210-25
Description:
KH domain containing, RNA binding, signal transduction associated 1a [Source:RefSeq peptide;Acc:NP_
Human Orthologue:
KHDRBS1
Human Description:
KH domain containing, RNA binding, signal transduction associated 1 [Source:HGNC Symbol;Acc:18116]
Mouse Orthologue:
Khdrbs1
Mouse Description:
KH domain containing, RNA binding, signal transduction associated 1 Gene [Source:MGI Symbol;Acc:MGI:

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa35582 Nonsense Mutation detected in F1 DNA Not yet available
sa16353 Nonsense Available for shipment Available now
sa22375 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa35582
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
ENSDART00000074787 Nonsense 133 370 4 9
ENSDART00000125633 Nonsense 133 369 4 11
Genomic Location (Zv9):
Chromosome 13 (position 45638896)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 44882395
GRCz11 13 45019299
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCTTTGCCTGCAGGAAGAGGAGCTAAGGAAGGGTGGAGATCCAAAGTA[T/A]GCACACTTGGGGATGGAGCTGCATGTGCATATTGAGGTCTTTGCTCCCAT
Long Flanking Sequence:
TTAAAGGCAGCAATAGCGTCAGATGCATTTTGATTTTATAACATCAGGTTATACTTTCTGGCACATTTAAAGCACTGACACAAATTTAATTGGTGTGTCTGCGTCATTGCATGCAAGGTTTCTGTATTTATAACCACCTCAGAGGATATTGGGGGTCGCGAGTCACTGGCATTGTTATTTTGGGGGTCGCGGGCTGAAAAGTTTGGGGACCCCTGATCTATTGTACTTACCCATTTGCAGCTTCATTTTGTTAACCATTTGTTTCCTCTGAATATAAAAAAAAAAAACTATACCACATATTTTATGCCTACTAACTTGTTAGCAACTTGGCATAATATTGTGAATGCTGAATACCATTATAGAAGCTTCTGGGGAATTTGATTCCGTCATAAGCTTGTTCTGCTCTACTAATCGCTTTACTTTGAAATGACCTGCATGCTAAAGATTAAATTGCTTTGCCTGCAGGAAGAGGAGCTAAGGAAGGGTGGAGATCCAAAGTA[T/A]GCACACTTGGGGATGGAGCTGCATGTGCATATTGAGGTCTTTGCTCCCATTCCTGACTGTTACCTGCGTATGGCTCATGCCATGGATGAGGTCAAGAAATTCCTGATGCCTGTAAGTGTGAACCTTCCTTCAGTGGACTGCCATCTAGTGGTGTAGATCTGCCTCTGCTTTATATACTATTCTAGTGTTGGATTATGGAAATTTCTGTGATTTATGTAACAATAATAATTAAACCCCATTAATTATAATAATACAATTTTACTTATTTCAGGTGGAAGGTATGGATGAGATGCACCCTGATGCTTTCATGGATCCAGGTTTTCTGAACGGCGCTCAGGATATGTCTGGCCATGGCAGAGGCATGCCAGGCAGAGGACGTGGTGGCCCTCCCCCAATGGGTGCTAGGTGAGACATTAACAGATGCATTTTAACATATAATTTCATTTTTAAATGTATCTGCAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTCTCCCCTTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16353
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
ENSDART00000074787 Nonsense 283 370 6 9
ENSDART00000125633 Nonsense 283 369 6 11
Genomic Location (Zv9):
Chromosome 13 (position 45638160)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 44881659
GRCz11 13 45018563
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACCAACCCAAGCYGCCAGAATGACACCTGCAGCCGGACTCTCCCACCAA[C/T]AGGCCAAACCTGAARCTTWCGGAGAATATGTGAGTCAATATAYATAGCAC
Long Flanking Sequence:
CCATTAATTATAATAATACAATTTTACTTATTTCAGGTGGAAGGTATGGATGAGATGCACCCTGATGCTTTCATGGATCCAGGTTTTCTGAACGGCGCTCAGGATATGTCTGGCCATGGCAGAGGCATGCCAGGCAGAGGACGTGGTGGCCCTCCCCCAATGGGTGCTAGGTGAGACATTAACAGATGCATTTTAACATATAATTTCATTTTTAAATGTATCTGCAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTCTCCCCTTCATTTGTAGTAATCCCATTTTGTTGTCTTTAATAGGGGTCGTGGTATGCCTCCTCGTGGAGCACCGCGCGGAGGAGCACCAAGGGGAGGTCCTGGCCGTGGAGCTGCAGCACGTGGAGCCCCAGCAGGACGAGGAGGACCTCAGCCCCCCACCCCAACCAGAGGGGGAGCAGCATCCCGCTCAAGGCCACCAACCCAAGCTGCCAGAATGACACCTGCAGCCGGACTCTCCCACCAA[C/T]AGGCCAAACCTGAAACTTACGGAGAATATGTGAGTCAATATACATAGCACCAGCAACTGCCCCTCAGCTGTTATTTACACTATTTAAGTAGATTGGGGATTATTGTAATTTTGATAAATGTATTAAATATTGTTTATTCAGCCCCAATGCATTTCATGCTGTCCATTTCAAATGTTTCAAGTTTATGTAGTTTTATTTTATATCATTACTTTAATGCACCCTAGGATTTGGTTAAGTTTTCACAAATGAGCATTAGCACGCAGTTTCCTGATCATCAAATCCTCTTTAAATTCATGTTAAGGGTTTGTACAATACATGCTGCTCTATTTAAGCTGAATTTTAAGCTATATTTTGCAGTTTACTCCAGACTTTTGAATTGTAATATATATTGATGTGTAAACTCTAAAGTTTTGTATTTAAAGGCTTGTTAAGTAACTACTCTTGGGTTCAGACAGTAATTTAAGACTCAATGTAAATGCTTGCTTTTTTTTTCCACCTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22375
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074787 None None 370 9 9
ENSDART00000125633 Essential Splice Site None 369 None 11
Genomic Location (Zv9):
Chromosome 13 (position 45635655)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 44879154
GRCz11 13 45016058
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTGCCTGCGCAGCCTCCTTCCCTCGTAACCTCTTGTTATCATCTAAAG[T/C]AATTCTAGTTGTTATTTTTGTATGCTGTTTTGGTTAACACACTCCTTTTT
Long Flanking Sequence:
GCTTCCATTTTAATCATCCGTTTCCATCAATTGATGCATTCAAAGTTTAACTCGGCGGGGTCATTGTGTGTCAAGTGCTATCATATATTTTTGTTTTGGGGAAAAGCTTCATGTTTGCTGTTTGTTTCCACAGAGATACGGAGTATTATGACTACGGCCACGGAGAGGCACAGGAGAGTTACGAGTCTTACAGTAAGTCATGTTGTGTCAGTGTCTTGGCTAACTTTAGCCTTGTTTTAGTGTTAATGTGCTCAAAACGACACTCTTACTTGCTCACAAGCTTTCCATGTGTTAAGGTAATTTAAAATGTTTTTTTTTTTTATCAGCAGAAGATGACTGGGAAGGTGGCGCTTGGGGTGGTGCTGGTGGAAAAGCCCCTACAGCTCGCCAAGGAAAATCGTTTCGGGAACACCCTTATGGCCGATACTGAGAGTGCTGTCGGCTCACTGCTGTTGCCTGCGCAGCCTCCTTCCCTCGTAACCTCTTGTTATCATCTAAAG[T/C]AATTCTAGTTGTTATTTTTGTATGCTGTTTTGGTTAACACACTCCTTTTTAAATATTCTGAATCCCAAGTAGGACGATGACCATTCATAAGTTCAGTACGACACGTTTTAGACTTGCGGTTTATATGATGGATGTGCTTATTCTCTTGGCATTTTGTTTTGCAATTTTATTGTTTTCTTGCCGGTTTTGTTTTTTATTATTATTATTTTTTTAATGGATAAGTGTTTCTTCTTTGGAAAAAAGAAATAAGATACCTGCTAAGACAATTAGCTGATGGCCATATGTAAATGACTTGCTAAAAAAAGGAAAAAACTGCCTGTTAATGTCACTTCTATTCCAAACGCGCTTCAAGGCAAAACAAAAAAAAAGGAAAAATTGAAGGATGCATAAAAATATTAGTTAATTTTCAACCCAACTTGTTTTAAATTTTGATGAGGTAATTTCCTGTTTGATTATAGTCGTAAAATTCAAACTACGCTTCTGCTGATTCGTTTTGTTAA
Associated Phenotype:
Not determined