Busch Lab

ZMP

nsd1a

Ensembl ID:
ENSDARG00000060016
ZFIN ID:
ZDB-GENE-080519-3
Description:
Nuclear receptor binding SET domain protein 1a [Source:UniProtKB/TrEMBL;Acc:A5XBQ0]
Human Orthologues:
EZH1, EZH2, SETD2, WHSC1, WHSC1L1
Human Descriptions:
SET domain containing 2 [Source:HGNC Symbol;Acc:18420]
Wolf-Hirschhorn syndrome candidate 1 [Source:HGNC Symbol;Acc:12766]
Wolf-Hirschhorn syndrome candidate 1-like 1 [Source:HGNC Symbol;Acc:12767]
enhancer of zeste homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:3526]
enhancer of zeste homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:3527]
Mouse Orthologues:
Ezh1, Ezh2, Setd2, Whsc1, Whsc1l1
Mouse Descriptions:
SET domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1918177]
Wolf-Hirschhorn syndrome candidate 1 (human) Gene [Source:MGI Symbol;Acc:MGI:1276574]
Wolf-Hirschhorn syndrome candidate 1-like 1 (human) Gene [Source:MGI Symbol;Acc:MGI:2142581]
enhancer of zeste homolog 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1097695]
enhancer of zeste homolog 2 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:107940]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa13619 Essential Splice Site Available for shipment Available now
sa42452 Nonsense Mutation detected in F1 DNA Not yet available
sa42453 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa13619
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084114 Essential Splice Site 967 2055 4 23
Genomic Location (Zv9):
Chromosome 14 (position 51433286)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 50186054
GRCz11 14 49173811
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTCAGGAATCGGCTCAYTCTGACGTCCCGAATAAAAAAGATGCTTCAGG[T/A]AAGTCCTGAAAAATTGAATAATCAATGAAGTCTTTGCAMTCTGAAKATAT
Long Flanking Sequence:
ATCCCTGTTGGAGAAGAGCCACCAAATGAGGTGCTTTGTGAAAAGGAGTTTGCAGAGCAAAGCAGCTTGCCTGGAAAAACATCAACACCGAACAACTCAAAGCAAAGCAAAGCTAAGCTGAAATCAACAGTGAAAAAGGAAAGTCAAAAGCCTGACGTTGTTATAGATTCAGTCTCTCCGTTAAAGAAACCAATCTCACCTGTAGGTTTGGATGTACTTGACAAGAGTTTGCCTTTGTTAGGAGATCTTCCAAAGTCTAGTGATGTTTCTGCTGCGGTTACTGATGTTTGCGCTAAGGGAACCATCTCCAAGGTTGCTCCTAAAAAGCGCTGGAAAACATTCGAGTCGGAACTTGGGAAAAGCATCAAGCCAAAGAGCGATCAGGTTGATTCGACTCTAGATGAGGTGAAGAGTGTGTCCACAGAGCCCAATGGAGTCTTCAAAGACGGTCTTCAGGAATCGGCTCACTCTGACGTCCCGAATAAAAAAGATGCTTCAGG[T/A]AAGTCCTGAAAAATTGAATAATCAATGAAGTCTTTGCAATCTGAAGATATTTTCTTTCTCTTTTTTTTTTTTTTTGAATCCCTATCTGAATGTTGGGTCAACCACAACATTGGGTCAGCTTTATACATTAAATTTAAATTACATAATTTTAACCCACCTGACAAAACTCTTGTCATTGATCTCAGTTGTAAATGCAAAAAATAATAACTCGACTTCTAGTTGATCACTTGGAAAAGTGTCAGAAGGTGGATTTTTCAGATGACTCATCTGTTGATCTGCATCACAATCATCACAAATACTGCAGAAGACCTACTGGAACCCACATGGACACAAGATTCTCACAGAAATCTTGGTTTGTGGTTACATTCAGTATGGGGGTGTGCGAGAGATCTGCAGAGTGCTGCCCATTACATTACAAACCACAGGAGACGGCAAATTCTCCAGCAGGATAGCGCTGCTCCTCATACTTCAGCCTCCACATCAAAGCTCCTGAAAGCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42452
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
ENSDART00000084114 Nonsense 1449 2055 15 23
Genomic Location (Zv9):
Chromosome 14 (position 51455120)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 50207888
GRCz11 14 49195645
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGCAGGAAAGAAGCCCCATTACAAGGACATACTGTGGGTCAAAGTGGGA[C/T]GATACAGGTGTGTTTCATCAGGACTTTTTCCACATCAAAGCTGCACAAAT
Long Flanking Sequence:
TCCTACATCCACAGTTTTATTACTGTATTTGGCGCCATCTTGTGTCTATTTTCATGTTTTGTGTCATTTAGCCATGCAATAAGCATTATAAAATACATCCAGGATGGTTGTTTTTGCAGAATAAGGCTTATAACGCTCCTCTGCTTCATGTTGGGATGCACTTTATTCCTGAAATAACAAGCACGACTTTAGATTTAAAAAATGCATTAGTAAATGTTTCCCCATGCTTGATAAATGCAAGTTTTATTCATTCTCAGTTCATTATAGATTCATACTCATATTGAATATCTTAGTCATATTGAATCATGAGGAAAGCAAATGTTTTACTAGGGTTTATCTTGCCATTAACAGGCGGGAGTCTGCTGTGCTGTGAATCTTGCCCTGCTGCCTTTCACAGAGAGTGTCTGAATATTGAGATGCCACAAGGCAGCTGGTTCTGCAACGACTGTCGAGCAGGAAAGAAGCCCCATTACAAGGACATACTGTGGGTCAAAGTGGGA[C/T]GATACAGGTGTGTTTCATCAGGACTTTTTCCACATCAAAGCTGCACAAATATAAAAAAAAATCAATATCTGGATATTTTATTGCAGTTGTCTGTGCATTTGTATTTGAATTACACTGTAGACCAGGGGTCTCAAACTCGCGGCCCGCGGGCCATTTGCGGCCCTCAGTGCAATATTTTGTGGCCCGCGCCGACCGCTGTACACTGACAGAATCAGCGGAGCGGGGAGAGAGAGTGCTCCCTGCTCCGCTGATTCTATCCGTACACAGCGGTCATTGGCATTCCCCGCTCGCCGTGTAAACAAAGGGGCGGGGATGCCGGTGACGTCACCACGCACCCCGCCCCTTTGTTAGACGCTGTGACGGGCGGGAAGTGTTATGAGGGAACTCGCGCCGGCCAGAACCAAGGTAAGCTGTTCCCGCCCCTGCCTGCCTCTTAGCTACCTAGCTACAGCCTGCATCTTATATATATTATAGGTAGATACAGACTGGTACAGACTGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42453
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084114 Nonsense 1489 2055 16 23
Genomic Location (Zv9):
Chromosome 14 (position 51456304)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 50209072
GRCz11 14 49196829
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGGTCGGAGAGTTTCCCGTGCACTTCTTCGGCTCTAAAGACTACGTGTG[G/A]ACGTATCAGGCTCGATGTTTCCCCTATATGGAAGGAGACGCCAACAATAA
Long Flanking Sequence:
GTCTAGACTTAATGATGATCATCTTCAAGCCATACTGAGGGTCTCAACTGCTTCCGCTCTAAAGCCAAATGTGGTTCAGATTTGTGAGAAGAAGCGCTGTCAAGTCTCTGGCAGCAAGGAGTAGGCAAAAGATGCCATGTTCAGAAGAACTGTTCATCATCTTCACTCAATATTCTATTAATGTTAAGGACACTTCATGTTTAGAAGAAATAATTAAAACTGTTAATAATGACAATTGAGGACTTTTTTTTTTTGTGAAATCCCTTATGCGGCCCAGCCTCACCCAGACTTTGCCTCCTGCGGCCCCCAGGTAAATTGAGTTTGAGACCCCTGCTGTAGACCCTGTGCAGTGTTGATGTGTGTTTGTCCGCTGTGTTTTCTGGCAGATGGTGGCCCGCTGAAGTCACGCAACCCAAAAGCGTTCCTGAAAACATCTCCCGCATGAAACACGAGGTCGGAGAGTTTCCCGTGCACTTCTTCGGCTCTAAAGACTACGTGTG[G/A]ACGTATCAGGCTCGATGTTTCCCCTATATGGAAGGAGACGCCAACAATAAGGAGAAGATGGGAAAGGGTGCAGATGCCGTCTATAAGAAAGGTAGCTTTATATTATAAAACATCCTATATCACAGTCAGTAAGAGCATTTTAATGTATATAAATTAGATTTTGTAGCAGTAGTAATGTATGACTTGAAGTTAGTTCAGACTAACAGTTGGATCCTTTTGTAATCTGTTAGATATCGGATGTATCTTGACACTATTATATCTCGTTTCTGCAAGTTGCAATGTGGACATTTCTTCTTTTAAATAGAAGTTTATTTCTTGCTGCTAAAGGTTGTAATTTAGTTAGTTTGTGGAATAGCAGTTTTGCATTTTCTTTATGTGCATTTGTGGATTTGTCTCAGTTCTGACTGAAAAAAAAGGTTGAATTGTGAGACTCATTGCACATAAAAGCCTCTAATCTCGCAGTTATCCAAAACAAAGTTGCAGTGTAATTTTAAAACTAT
Associated Phenotype:
Not determined