ZMP

zgc:194152

Ensembl ID:

ENSDARG00000040303

ZFIN ID:

ZDB-GENE-041008-35

Description:

Nibrin [Source:UniProtKB/Swiss-Prot;Acc:Q5I2W8]

Human Orthologue:

NBN

Human Description:

nibrin [Source:HGNC Symbol;Acc:7652]

Mouse Orthologue:

Nbn

Mouse Description:

nibrin Gene [Source:MGI Symbol;Acc:MGI:1351625]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa22834	Nonsense	Available for shipment	Available now
sa28655	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa22834

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000058974	Nonsense	202	818	6	16
ENSDART00000131238	Nonsense	202	857	6	16

Genomic Location (Zv9):

Chromosome 16 (position 26089158)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	23934833
GRCz11	16	23849865

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTCAAATTGATGAGCCCAGCCTGGCTAGAGATGATGTGGATCTGAGTGCA[C/T]GACCTGAGAGAAAGAGCCTCTTCAAGGGGAAAACATTCCTGTTTTTGAGC

Long Flanking Sequence:

ACAGTCATGTTTATGACAGATTTATGACATTATGTTGTCTTGATAAATTGATAAAGTTGTCATGACTAAGACATCTTGAACAATGTCACCTTTGCATTTAAAATGGCATAACTGAGCAAAAGAACTGTAAAGTTCAAACAGAAAATCATGATATTTGTTGTTTTAATCATAATTTCAGTATTTAATCATAAAATTGATTATTTTAATCAATCTCGCAAAAAAAGAACTTAGTTGAAGTAAGAAATTTTACCCAAAGTTTTAAGTGTGCATTTACTTAAACCTCAAGCTATTTATAAAAAAATTATTGGTGATTTGAAATACATTTTGTCTTTTTTAACCATCATTAATCAACTCATATTTTGCATTATATATAAACTTGACATTAAGAGAGCATATAGACAAATATACATTAATAGGTATTGCTGTGGTTTGTGTTGATCAGATTTAGGCCTCAAATTGATGAGCCCAGCCTGGCTAGAGATGATGTGGATCTGAGTGCA[C/T]GACCTGAGAGAAAGAGCCTCTTCAAGGGGAAAACATTCCTGTTTTTGAGCTCTAAACAGGCAAGAAGATTTTTTTTAACCACTAATATCAAAAATGGTGTCATCACTGTAACTTTGAAACTCTTCACATTAGGACAACCTCTATATACTTAGCAAACACTTATACAGGTATTTATCAAAATAGTTTACTGACATTTCTAACGTTTTTTTTTTCTTTTTTACATTTGATATTAAGAAATGTTTCTTTAATAGTAAGATTAAAATTTTTGTTTTGCAGAACATAATTGCTATTTAATTGTCTTTTTTTAGATTCTCGTGACAGATACCTTTTAAATATATTGAAATTTGATACCATCTCCAATACCAACATTGCCACATTAAAGGGCACCTATGATGAAAATCACCTTTAAGAAACTGTTTGGACAGAGCTCTGTGCAAGTATAATGTGTCCACAGTGATACTGAAGTGATAGAAACACAATGTCTCTTTTTTTAAATTTCC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa28655

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 > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000058974	Essential Splice Site	754	818	13	16
ENSDART00000131238	Essential Splice Site	754	857	13	16

Genomic Location (Zv9):

Chromosome 16 (position 26108605)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	23954280
GRCz11	16	23869312

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CATTACAGACACACAATCCAAATGACAAGAACGTCAAAAGATTTCGCAAG[G/T]TATGACAAAACGTCTCATTATCACACATCTGTAATATTGTGACCAAGTAT

Long Flanking Sequence:

AACAATTTTAAAAATAACTGCCGAAACATGTTTTAAGCTGTCCTAATTTTCCATTAAGGAGAAAACAGTCCAGATTCTTATGGTTTACTTTTGTATCAAATATTCCACATGTTAATACAGCTTTTCTTAAGTAGTAAACTTGCTTAGTAGCTCACCCGGTGCAGTTTGTTCCTATTCCTAATGTTTCTTATTCAAAGAGATACAAGCAAAACAATATCAGTTTGCAACAATGATGTCTGGAAAATCCAGCAAAATAGACCTGGAGCAGCATATTTCAGGTTTTGTAGAAAGCAAGACACAGTTATGAGTTGTGTAATAAAATCTCTGCTGATTTTCAGGCCTCAACCTCCAATTCCGGACCTAAGAATGACCCCGATCTGCCCAGGAAGCTACTGCAGGTTCAGTTTATGTCTCTAACAGTGAACAACTCTTCCAGATCAAGACCAGGCCCATTACAGACACACAATCCAAATGACAAGAACGTCAAAAGATTTCGCAAG[G/T]TATGACAAAACGTCTCATTATCACACATCTGTAATATTGTGACCAAGTATCGTCATGCCTTGTTTATCTGCATTAGAGACATTTTTAAAAGTATAATGTTTGGTGTGTGTGTGTGTGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGCGTGTGTGCGTGCATGCGTGCGTGCGTGTGTGTTTACGCATGTAGAAAAATGTCCCTGGATTTGATGGGCTGCCTAAGATAATTGGAGGCTCGGATCTGGTGGCTCATAATCGCAGTAAGCACTCTGAACTAGAGGAATGGCTGAGACAGGCAGCAGAGGTAAGAGAAGAACACACAGAAAAACATTGAAAAAGTGTTATTATGATATAAATTATTCTATATTCATTAATTTTTCCTATTTTTGCATTTAGAGTATAATATATGTCAAGTTACTGCTGACTTAATGTTAATTTGTAATATTTCTAATAATGATGCATCCCCTATTTGTTTGACCATT

Associated Phenotype:

Not determined