ZMP

khdrbs1b

Ensembl ID:

ENSDARG00000070475

ZFIN ID:

ZDB-GENE-040426-2344

Description:

KH domain containing, RNA binding, signal transduction associated 1b [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 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa23547	Essential Splice Site	Available for shipment	Available now
sa43302	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa23547

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

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000103471	Essential Splice Site	272	352	6	9

The following transcripts of ENSDARG00000070475 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 19 (position 31600428)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	30767717
GRCz11	19	30355030

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCCGCGGATGCCTCCACCCCCTCAGACCCAAGAGTCCTATGATGAATATG[T/C]ACGTGTTTTATTTAAATAACTATCCTCTGAATTTGCTTTGAAGATATTAG

Long Flanking Sequence:

ACAGACACTCCGTGATTTCCGTGTTTCTTGAGACATGTTAATAAGCTGTGTGCCTTTCTCACAGGACATGATGGATGACATTTGCCAGGAGCAGTTCATGGAGATGAAGTTTCTGAATGGCGGTCAGGAACACGGAGGTAGAGGCCGAGGAGGACCACCCATCAGAGGCCGTGGAGGTCTTCCTCCTCCTGGAGCACCCAGGTAACCCATACACCTATGTAAAATGCATTGCGACTGTTCTAGTTTGAGCTGCTTTAAAAATTTAGAGGAGTAGAGGAATAATAATCTTCATCCCTGCAGGGGTCGTGGTATGCCCCCACGTGGAGGTGGCCGTGGCGGACCCCCTCGTGGTGGAGCTGCAAGGGGAGCTCCTGCAGGCAGAGGTGGACCATCAGCCCAGCTGCCCAGAGGAGCTGCTTCAAACCGTGCCCGTCCACCTGCCCCTGGCGCTCCGCGGATGCCTCCACCCCCTCAGACCCAAGAGTCCTATGATGAATATG[T/C]ACGTGTTTTATTTAAATAACTATCCTCTGAATTTGCTTTGAAGATATTAGCCCCTTTCACACTGCAATCAAGATAAATTACTTGAATGCATATTTGTGCCATTTACTTAAGCAATTATTTTTTTAAGACACAATCCATTTAGACGCCAGTATGCTGTTGTGAATTTGATCATTGGAAAACACTTTTCCCAATGCTATTTTCTTTATCCACCTATACTATGTCAGTCAGATCTGACCGTTATTGAAACTTCTGAGTGACGGGTTTAGGGAGATAATTGTACTGTAATTAGTGTAGTACACTGCAGCACTGATGAATGATAGAGGCCAGGGTAATGAGCATAAAATGTGGTATAATAGCAAGCCTTTTTATTTCCCCTCACTATAACATTAAAATGCATTAGAGCTTAATATATTAAGATCTGACAAACCTGTATAATTTGTCCTAAGCAGATGTTTTGCATCAGTGCACACATGGAAAGTCCAAAAGAAATTCTCATACCG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa43302

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
ENSDART00000103471	Nonsense	339	352	9	9

The following transcripts of ENSDARG00000070475 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 19 (position 31597629)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	30764918
GRCz11	19	30352231

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGACACCACGTACTGCTGCTGCCGCCGGTGGAAAAGCTCCCACTCAGAGA[C/T]AGACTAAACCTGGGTTCAGGGAACACCCCTATGGACGATACTAAGTCTGA

Long Flanking Sequence:

ACATTACATAATATCCAAACTATCTGTTTTTGTAGCTTGATTTGAAAACAACAAATGCTTTATTTAGAATGTGGACATTATGAAACTTGCATGATGCTGTAAAGGGACAAAGATCTCTTTGAAAAGATGAAGGAAAAGTGATTCATAACATTCTCATGTTATGACCCCTTTGAGTCTCAACACCTAGTTTGCCCCTGCTAATGGTTTACGCAATGCATTATAGTTATTAAAGTTAAGGTCTTTGAACTAAAATCTTCCTCTATTGAAAGCTAGCAGTATTGCAGTACGAGTAAATGGTAGTTTTCACCATTTGCAAATGAGGCATGGCATGCACATCTAAAGATACAGGTTATGTAATAGGTTTGCTGATTGATTTGAATGGAAGTACTGTACTAGGAACATCTTTGGTTAATTTGTGTTCTGTTTCTGCAGCTCAAGATAACTGGAATGGGACACCACGTACTGCTGCTGCCGCCGGTGGAAAAGCTCCCACTCAGAGA[C/T]AGACTAAACCTGGGTTCAGGGAACACCCCTATGGACGATACTAAGTCTGACTAGTGGAACGTCACCCAACGCGTCGCCATGACAACTGTCTCCCATGGCAGCTCACGCTTTAAGCTACCCGACAAAAGTAATTGTCTGTTTGTTTTTGGTTTTGTGTTTTGTTTTTTTTTTTACTCCGGACTTTAAAGAAACTCGACAGAACGGCATTTGAATGCCTCAAGAATCGACTTAACCTTTAGAAGGGATTAGAGTTTAAACATGGCTGTTTTTTGGTTTGATTTGTTTTTTGTTTTTGCCAATATCTTCCTCTGCTCATACCTACCCTTGCTTTTTTGCATTTGTCGATGGTAAACGTTTGTTCCACAGATTGGAAAAAGTATTTAGCTCAAAGGTAAAGTCTAACAACTGTACAGCCACTTTTTGTGTCTCAGGACGCTTCTTTAATTTGTGTTACCTTAAAAACTCTGCTGAGGTGCAGTTGCAGATTCCCATGTAGGCTA

Associated Phenotype:

Not determined