ZMP

rbpjb

Ensembl ID:

ENSDARG00000052091

ZFIN ID:

ZDB-GENE-070319-1

Description:

recombining binding protein suppressor of hairless [Source:RefSeq peptide;Acc:NP_001077020]

Human Orthologue:

RBPJ

Human Description:

recombination signal binding protein for immunoglobulin kappa J region [Source:HGNC Symbol;Acc:5724]

Mouse Orthologues:

Rbpj, Rbpsuh-rs3

Mouse Descriptions:

recombination signal binding protein for immunoglobulin kappa J region Gene [Source:MGI Symbol;Acc:M
recombining binding protein suppressor of hairless (Drosophila), related sequence 3 Pseudogene [Sour

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa8403	Nonsense	Mutation detected in F1 DNA	Not yet available
sa34217	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa8403

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000092580	Nonsense	26	491	3	11

Genomic Location (Zv9):

Chromosome 7 (position 62818943)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	61866141
GRCz11	7	62176303

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TATGTGTTTCCTTTCTTTCTGCNTATTTTYCAGAGAAGCCATGCGAAATTA[C/A]CTGAAGGAACGAGGAGACCAAACTGTGCTCATCCTACACGCTAAAGTTGC

Long Flanking Sequence:

ATTAAAAGAAGAATATACTTGGGCCTGCTGTTGTGTGTGCACTTTTATATGCAATGTTTCTGTATTTATAACCACCTCAGAGGATATTCAGGGTCGTGAGTCACTGGCATTGTTATTTTGGGGGGTCGCGGGCTACCCCTGGGCTAGACTGCAGCCAAAATTAATTAACTTACTAAGTAACAGACAAATCCATCACATTGTAACAATAACGAAGTTACTATGTTTAAAAGTAATGCATTACAGTATAAGTTACTGTCAAAAGTAATGGCGTTACAGTAAAGCGCTATTGCCAAACACTATGTGTGAATACTCTTATGTAATCTCACACTGCTTGATGAGGTGATTGTTCTAGTTTGTTCTGGTAAAACTTTCCAAAAAAAAAAAGATGTTTTTATGTGTTTGGCAACATGATTTCTTAAAATTCCCATCACACTGTTATGTTTACTGTCTTATGTGTTTCCTTTCTTTCTGCTATTTTCCAGAGAAGCCATGCGAAATTA[C/A]CTGAAGGAACGAGGAGACCAAACTGTGCTCATCCTACACGCTAAAGTTGCACAGAAATCATACGGCAATGAAAAAAGGTAAATGATGGCTACCACCCATAAGGAATTCATGAGGTGAAATGCTTCTTGACCTTTTAGTGGGTGTCAATACAGAATGTTTGCAACACTGTTTAAATATTTAATCTTTGGTCGTTGCGTTGTATCTGAATTTTTAGTATAGTATCTTGCACAATAAGAGTTTCATTAAAAGTTTTTCTATATGTTTATCTCTCTGTATGTGAGCAAAAAATATGTCCCATGTGAATTCCTTTATGCTGTCAATTTTTTTCCTAAATGTTCATTAACAACGGGGCCATTATAATTTGTGCTTATCATCAGCATTTTTGAGGCATTTTTCACACTTAAGAGATTTTCACTGCAATAAGTAGAGAAGAACCAAATTTTCGGCTGCTGAAAATTATCAGCTAAAAATGCTTCATTCAACCAATCATTTTTGGCGTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa34217

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
ENSDART00000092580	Essential Splice Site	383	491	10	11

Genomic Location (Zv9):

Chromosome 7 (position 62846168)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	61893366
GRCz11	7	62203528

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCAACTCTGCGGGTGTGGTTTGGTGATGTAGAGGCAGAGACCATGTACAG[G/A]TATAGATTTGAGAAGATATACATATATGTATTGTTACGTCCTATAAAGCT

Long Flanking Sequence:

TTCAAACATTAAGAGATAGTTCACCCGTACAAGTTTTGTCATCATTTACTCACCCTTGACTTGATCCAAACCATTTTTTATTCTGTTCCACACTAAAGAAGGTATTCTGAAGAATGTTGGAAACCTGTAACCATTTACTTCCATAGTAGGAAAAACACTATGGAAGACAATGGGTTACCGGTTTTCAGTCCTAGTTCCTACCTCTACTCATTAATTATTCCTAAAACTGAGCTGTAGAGCTGTAAACTCACATCTGATTGGTTGATTGAAATGTTGTTCCAGACTCAAGAAGGATGTTGATCCGGGAACATTTTGTACTTAAGACACTTTTTTTTTTCTTCTTTACACGTCTCTGCCTGTTGTGTGTACATTATGTGTGTGTGTTTGTTTGAGCAGTTGAATGGTGGTGGAGATGTAGCCATGCTGGAGCTCACAGGACAGAACTTCTCTCCAACTCTGCGGGTGTGGTTTGGTGATGTAGAGGCAGAGACCATGTACAG[G/A]TATAGATTTGAGAAGATATACATATATGTATTGTTACGTCCTATAAAGCTCTCTGGACTCATTTAGCAACATAAGAGATAGATAAAGGATAAAGGATGAGCATATGAATGAGTTTTGAATCAAGTTTAAAACTCCTATCTTTATTTCAGATACTGATTGATAAACACAAACAAAATATAAGTCAATATAGGCCAATCTATGTAAAATAATAATATTTTACCTAACTTTTACTGTCACATCAAAATAAAACGGAATTGCTTTACTGAAATGTAAAAATGTATGGAAACAAATTTATTTTAGCATGCTTTCAAGGAGTACTCTTGAAAGATAGAGTATGCTTCAAATATTTAGTGAGACATGAATGTGTTTTTAGGCACTCAACTGCATTTAAATGAAATGTGTAGTTTACACTTATATTACAAGCAATTACAGGGTGTCTGCAGGGCCTTAAAAAGTCTTAAAATGTCTTGAATTTCAAAATCAAAATTTTATGCCATGAG

Associated Phenotype:

Not determined